Autosomal recessive disease

This study tests a new gene therapy called DB-OTO for children with hearing loss caused by changes in the otoferlin gene. The treatment is injected into the inner ear to help restore hearing. Up to 30 children and infants will take part to check safety and how well it works.

This study tests a new, gentler stem cell transplant for children with sickle cell disease using a combination of drugs and low-dose radiation. The goal is to cure the disease with fewer side effects than standard transplants. About 100 children will receive a transplant from a h…

This early-stage trial tests a gene-editing treatment for people with severe sickle cell disease or beta-thalassemia. The approach uses the patient's own blood stem cells, which are edited to boost fetal hemoglobin—a healthy type that can replace the defective hemoglobin. Up to 1…

This study tests a new 21-valent pneumococcal vaccine (PCV21) in 100 children and teens with sickle cell disease, aged 2 to 17. The goal is to see if it's safe and helps the body make antibodies better than the current 20-valent vaccine. Participants get one shot and are monitore…

This early-stage trial is testing a new gene therapy called nula-cel for people with severe sickle cell disease. The therapy modifies a patient's own blood stem cells to produce normal hemoglobin instead of sickle hemoglobin. About 15 participants aged 12 to 40 will receive the t…

This clinical trial tests a partial stem cell transplant for people with severe sickle cell disease or beta-thalassemia who need regular blood transfusions. The transplant uses a lower-intensity conditioning regimen with alemtuzumab, low-dose radiation, and abatacept to help dono…

This early-stage trial is testing whether a skin gel made from curcumin (a compound in turmeric) can be safely absorbed by adults with stable sickle cell disease. Researchers will apply the gel to the forearms twice a week for six weeks and monitor for side effects. The goal is t…

This study tests a new medicine called ANG003 for people with cystic fibrosis who have trouble digesting food (exocrine pancreatic insufficiency). The medicine is a type of enzyme replacement therapy, similar to the current standard treatment Creon. About 113 participants will re…

This study tests an experimental drug called AZD0292 in 435 people aged 12 and older who have bronchiectasis and a long-term lung infection with Pseudomonas aeruginosa. The goal is to see if the drug can reduce the number of moderate-to-severe lung flare-ups compared to a placebo…

This phase 2 trial tests a powerful mix of short-course radiation, chemotherapy (mFOLFOX6), an immunotherapy (PD-1 antibody), and a targeted drug (cetuximab or bevacizumab, depending on genetic markers) in people with high-risk rectal cancer that is mismatch repair proficient (pM…

This Phase 3 trial tests whether adding immunotherapy and a targeted drug to short-course radiotherapy and chemotherapy improves outcomes for people with high-risk rectal cancer. About 204 participants will receive either the standard treatment or the intensified combo. The study…

This early-stage trial tests an experimental drug called PL54 in adults aged 18 to 55 with phenylketonuria (PKU), a genetic disorder that prevents the body from breaking down the amino acid phenylalanine. PL54 is an enzyme designed to help lower high blood phenylalanine levels, w…

This early-stage trial tests a new gene therapy called SKY-GJB2 for children aged 9 months to 7 years with hearing loss caused by changes in the GJB2 gene. The therapy is given as a single injection into the inner ear using a special delivery device. The study will enroll 10 chil…

This study tests a new drug called ITU512 in healthy people and those with sickle cell disease. The goal is to see if it is safe and can increase fetal hemoglobin, which may reduce sickle cell symptoms. The trial is in early phases (1 and 2) and involves about 161 participants. I…

This study tests whether injecting a person's own bone marrow stem cells into or near the eye can help treat various retinal and optic nerve diseases, including age-related macular degeneration, retinitis pigmentosa, and glaucoma. Participants receive stem cell injections via dif…

This study looks at how well setmelanotide works in real-world settings for people with Bardet-Biedl syndrome, a rare genetic condition that causes severe obesity and constant hunger. Researchers will track changes in body mass index, cholesterol, liver fat, and quality of life i…

This early-stage trial is testing a new drug called AG-181 in 20 adults with phenylketonuria (PKU), a genetic condition that makes it hard to break down an amino acid called phenylalanine. The main goal is to check if the drug is safe and tolerable. Researchers will also measure …

This study tests whether a single dose of tocilizumab, an anti-inflammatory drug, can help children and adults with sickle cell disease recover faster from acute chest syndrome—a serious lung condition. Participants receive either the drug or a placebo, and researchers measure ho…

This study tests a new gene therapy for children with a severe inherited bone disease called osteopetrosis. The therapy uses the child's own blood stem cells, modified to fix the genetic defect, and then returned to the body. The goal is to improve blood cell production and survi…

This Phase 3 trial tests whether the oral drug rilzabrutinib can lower the number of painful vaso-occlusive crises in people with sickle cell disease. About 192 participants aged 10 to 65 will receive either the drug or a placebo for 52 weeks. The main goal is to see if the drug …

This study tests a drug called crizanlizumab in people aged 12 and older with sickle cell disease who have frequent pain crises. The goal is to see if the drug can reduce the number of these crises compared to a placebo. Participants may also continue taking their usual treatment…

This study tests whether the antibiotic rifampin can safely lower high calcium levels in the blood and urine of people with a rare genetic mutation in the CYP24A1 gene. The condition can cause kidney stones and other problems. Sixty participants aged 6 months to 65 years will tak…

This early-phase trial is testing a gene therapy called SGT-212 for Friedreich's ataxia, a rare genetic disease that damages the nervous system. Ten adults with the condition will receive the therapy through an injection into the brain and a vein. The main goal is to see if it is…

This study looks at two ways to treat lung flare-ups in children with cystic fibrosis. One group starts antibiotics right away, while the other only takes them if symptoms don't improve. Researchers will track lung function over a year to see which approach works better. The goal…

This study tests whether sepiapterin, a powder taken daily, can preserve intelligence and quality of life in children with phenylketonuria (PKU) when started early in childhood. The trial will follow 56 children for years, measuring IQ and other outcomes. It is an open-label phas…

This study tests an experimental drug called ultevursen for people with retinitis pigmentosa caused by a specific gene mutation (USH2A). The drug is injected into the eye and may help slow vision loss. The trial involves 81 participants, some of whom will receive a sham (fake) in…

This study tests an oral drug called nizubaglustat in children and teens aged 4 and older with Niemann-Pick type C disease, a rare genetic disorder that affects movement and thinking. Participants will take the drug or a placebo for 18 months to see if it slows the disease and im…

This study tests the long-term safety and effectiveness of a daily medication called nizubaglustat in people with two rare genetic diseases that affect the brain and body. About 21 participants who were in a previous study or who have been on a similar drug (miglustat) will take …

This Phase 3 trial tests an oral drug called nizubaglustat (AZ-3102) in people aged 4 and older with Niemann-Pick type C disease, GM1 gangliosidosis, or GM2 gangliosidosis. The study lasts 18 months and compares the drug to a placebo to see if it is safe and can slow disease prog…

This study tests an experimental drug called REGN5093 in people with advanced non-small cell lung cancer that has a specific change in the MET gene. The first part finds a safe dose, and the second part checks if the drug can shrink tumors. About 231 participants will take part.

This global phase 3 trial is testing whether a daily pill called etavopivat can reduce the number of painful sickle cell crises in adolescents and adults with sickle cell disease. About 408 participants will be randomly assigned to receive either etavopivat or a placebo for aroun…

This study tests whether adding methotrexate (a drug that calms the immune system) can help adults with PKU tolerate and respond better to Palynziq, a protein-based treatment. About 12 adults who either haven't taken Palynziq before or have high blood Phe levels despite treatment…

This study tests an experimental oral drug, GSK5460025, alone or with other cancer drugs, in adults whose solid tumors have specific genetic changes (dMMR or MSI-H). The goal is to see if the drug can shrink tumors and to check its safety. About 47 people with advanced cancers th…

This study tests a new drug called BMS-986470 in healthy volunteers and people with sickle cell disease. The goal is to check its safety, how the body processes it, and whether it might help control the disease. The trial is in early phases and involves about 184 participants.

This study tests whether omaveloxolone, a drug already approved for people 16 and older with Friedreich's ataxia, can safely help children aged 2 to 15. About 255 participants will first receive either the drug or a placebo for a year, then all will receive the drug for two more …

This early-stage trial tests a new drug called BCX17725 in healthy volunteers and people with Netherton syndrome, a rare genetic skin condition. The study aims to check safety, how the drug moves through the body, and whether it can reduce skin redness and scaling. About 78 parti…

This early-phase study is testing a new drug called 131I-apamistamab, which combines an antibody with radioactive iodine, to prepare people with severe sickle cell disease for a bone marrow transplant. The goal is to find the smallest effective dose that allows the donor stem cel…

This study looks at the long-term safety and effectiveness of etavopivat, an experimental medicine for sickle cell disease and thalassemia. It involves 480 adults, adolescents, and children who have already benefited from etavopivat in a previous study. Participants will continue…

This study offers continued access to crizanlizumab, a drug that helps reduce painful crises in sickle cell disease, for 130 patients who benefited from it in earlier Novartis trials. Participants must have completed a prior study and lack other access to the drug. The main goal …

This Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…

This study tests whether adding the drug ruxolitinib to a standard stem cell transplant can prevent graft failure in children and young adults with severe sickle cell disease. Up to 24 participants will receive the drug during conditioning and be followed for two years after tran…

This early-stage study tests a new drug, DISC-3405, in 24 adults with sickle cell disease to see if it is safe and how the body processes it. Participants will receive increasing doses of the drug, and researchers will monitor side effects and changes in blood counts. The goal is…

This phase 2 trial tests a stem cell transplant from a donor for people with high-risk sickle cell disease, thalassemia, and other red blood cell disorders. Participants receive drugs and low-dose radiation before the transplant to help the new cells take hold. The study will tra…

This study is testing a stem cell transplant from half-matched (haploidentical) donors for people with sickle cell disease or beta-thalassemia. Before the transplant, patients receive drugs to lower their immune system, which may reduce the risk of serious side effects like graft…

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This study tests a gene therapy called DFT383 in 30 children aged 2 to 5 with nephropathic cystinosis, a rare disease that damages kidneys and other organs. The treatment aims to fix the genetic problem so children may no longer need daily cysteamine medication. Researchers will …

This early-stage trial is testing the safety of fostamatinib, a drug already used for arthritis, in 25 adults with stable sickle cell disease. Participants take the pill twice daily for up to 6 weeks, with close monitoring for side effects. The goal is to see if the drug is safe …

This early-phase study tests a new drug called DSB2455 in adults with advanced cancers (breast, ovarian, prostate, pancreatic, or brain metastases) that have a specific DNA repair problem. The main goals are to check safety and see if the drug shrinks tumors. About 180 participan…

This study tests two drugs, toripalimab and celecoxib, in people with a specific type of colorectal cancer (dMMR or MSI-H) that has not spread far. The goal is to see if the treatment can make the tumor disappear completely, so some patients might not need surgery. About 105 adul…

This study tests whether empagliflozin, a drug already approved for kidney disease in diabetes, can slow kidney damage in people with sickle cell anemia. About 20 adults with sickle cell disease and early signs of kidney trouble will take the drug for 6 months. Researchers will m…

This study tracks 20 adults with cystic fibrosis who are starting Trikafta to see if it reduces shortness of breath and improves exercise performance over two years. Participants will do exercise tests and report their breathing symptoms. The goal is to understand how this medica…

This study tests whether a weekly injection of dulaglutide, a GLP-1 drug used for diabetes, can improve early insulin release in adults with cystic fibrosis who have trouble processing sugar. About 30 participants will receive the drug or no drug in a crossover design. The goal i…

This study is testing the long-term safety and effectiveness of an experimental drug called CTI-1601 for people with Friedreich's ataxia, a rare genetic disease that affects movement and heart function. It includes about 85 adolescents and adults who have or have not taken the dr…

This study tests an experimental drug called SPL84 in adults with cystic fibrosis who have a specific genetic mutation (3849+10kb C->T). The drug is inhaled weekly for 9 to 12 weeks. Researchers want to see if it is safe and if it can improve lung function. Some participants will…

This study tests a new drug called anumigilimab in 63 adults with sickle cell disease to see if it is safe. Participants get weekly injections for 64 weeks, starting with a low dose that increases to their personal maximum. The goal is to reduce painful crises, but people will st…

This early-phase study tests a new approach to stem cell transplants for sickle cell disease. It uses a half-matched (haploidentical) donor, which could help more patients find a donor. Before the transplant, patients receive two cycles of immune-suppressing therapy to prepare th…

This study tests an experimental mRNA medicine called ARCT-032 in 33 adults with cystic fibrosis who cannot take or do not benefit from current CFTR modulators. The goal is to see if the drug is safe and can improve lung function and quality of life. Participants will receive mul…

This early-stage study tests a new gene therapy called KB407, given as a mist through inhalation, in 20 adults with cystic fibrosis. The goal is to see if it is safe and can improve lung function by delivering a working copy of the CF gene to lung cells. Participants will receive…

This study looks at bone health in people with cystic fibrosis (CF) and tests a drug called denosumab to treat bone disease. Up to 100 participants, including both CF patients and healthy volunteers, will have bone scans and blood tests. A smaller group of 10 CF patients with bon…

This early-phase trial is testing a new daily pill called NDI-219216 for people with advanced solid tumors that have not responded to standard treatments. The study will first check safety and side effects, then look at whether the drug can shrink tumors. About 134 participants w…

This early-phase study tests the safety of a one-time gene-edited stem cell treatment for people with severe sickle cell disease. The therapy uses CRISPR technology to boost fetal hemoglobin, which may reduce painful crises and other complications. Up to 25 participants aged 18 t…

This study tests an experimental oral drug, JNT-517, for adults with phenylketonuria (PKU), a genetic condition that causes harmful buildup of phenylalanine (Phe). About 120 adults will receive either JNT-517 or a placebo for 6 weeks, then all will receive JNT-517 for nearly a ye…

This study tests an experimental drug called AVTX-803 in people with leukocyte adhesion deficiency type II (LAD II), a rare genetic condition that weakens the immune system and leads to frequent infections. The trial will compare the drug against a period without treatment to see…

This study tests a stem cell transplant for children with sickle cell disease who have a matched family donor whose blood type is incompatible. The goal is to see if a gentle conditioning regimen using alemtuzumab, low-dose radiation, and sirolimus can safely allow the transplant…

This phase 3 study is testing the long-term safety and effectiveness of AVTX-803, a form of L-fucose, in people with leukocyte adhesion deficiency type II (LAD II), a rare genetic disorder that weakens the immune system. Only 2 participants who completed a previous study are enro…

This Phase 3 study is testing the long-term safety of an oral drug called JNT-517 in 240 children and adults with phenylketonuria (PKU). All participants will receive the drug twice daily, with doses based on age and weight. The goal is to see if JNT-517 is safe to use over time …

This study is testing whether giving blood transfusions that match the patient's own RH genes can prevent the body from making harmful antibodies. About 35 people with sickle cell disease who need regular transfusions will receive specially matched donor blood. The goal is to see…

This study tests a once-daily pill called etavopivat in children (6 months to 18 years) with sickle cell disease. The main goals are to check safety and how the drug works in the body, and to see if it can raise hemoglobin levels and reduce painful crises. About 95 children will …

This study tests a lotion called QRX003 in people with Netherton Syndrome, a rare genetic skin condition. About 16 participants aged 4 and older will apply the lotion twice daily for 12 weeks. Researchers will check if it improves skin appearance and reduces itching.

This phase 2 trial is testing whether metformin, a common diabetes drug, can improve airway function in 30 adults with cystic fibrosis-related diabetes who are already on CFTR modulator therapy. Researchers will measure changes in ion channel activity in nasal cells. The study ai…

This study tests a one-time treatment using CRISPR to fix the sickle cell gene in a patient's own blood stem cells. Up to 9 people aged 12 to 35 with severe sickle cell disease will receive the edited cells. The goal is to reduce painful blockages in blood vessels and improve qua…

This trial tests a gene therapy called EHT102 for children with congenital hearing loss caused by mutations in the OTOF gene. Up to 30 children will receive a single injection in one ear to see if it safely improves hearing. The study is early-stage, focusing on safety and whethe…

This program provides crizanlizumab, a drug that may help reduce pain crises, to people with sickle cell disease who have no other treatment options. It is for patients who cannot join a clinical trial. The goal is to offer potential benefit when standard therapies are not availa…

This study tests a new treatment called OpCT-001 for people with inherited eye diseases that damage the retina, such as retinitis pigmentosa. The treatment involves injecting special photoreceptor cells, made from stem cells, into the back of the eye to replace lost cells. The tr…

This study tests an experimental oral drug called Alintegimod (7HP349) combined with two standard immunotherapies (ipilimumab and nivolumab) in people with advanced solid tumors like melanoma, lung, kidney, and liver cancers. The trial has two parts: first, finding a safe dose (p…

This study tests whether alendronate, a drug used for osteoporosis, can help adults with sickle cell disease who have bone damage (osteonecrosis). Thirty participants will take a weekly pill for 24 weeks. The main goals are to see if the treatment is feasible and safe, and to mea…

This study tests a new drug called EIK1005, alone or with another drug (pembrolizumab), in people with advanced solid tumors that have not responded to other treatments. The goal is to find a safe dose and see if the drug shrinks tumors. About 160 adults with certain cancer types…

This study tests a drug called dorzagliatin in 15 adults with cystic fibrosis who have trouble controlling their blood sugar. Participants take the drug or a placebo for 7 days each, in a crossover design. The goal is to see if dorzagliatin improves glucose tolerance and insulin …

This study looks at whether offering personalized follow-up, including video visits, helps more people with pseudoxanthoma elasticum (PXE) get proper care. PXE causes calcium buildup in skin, eyes, and blood vessels, leading to vision loss and other problems. The researchers will…

This study tests a combination of four drugs (sintilimab, ipilimumab, cetuximab, and dabrafenib) in people with a specific type of advanced colorectal cancer that has a BRAF V600E mutation and is microsatellite stable. These cancers are hard to treat and don't respond well to sta…

This phase 2 trial is testing whether a single low dose of tocilizumab, a drug that blocks inflammation, can help people with sickle cell disease who develop acute chest syndrome—a serious lung complication. Researchers will enroll 200 patients aged 12 and older and track their o…

This study tests a drug called N-acetyl-L-leucine (IB1001) in people aged 4 and older with Niemann-Pick disease type C, a rare genetic disorder that affects movement and thinking. The trial compares the drug to a placebo to see if it improves coordination and quality of life. Aft…

This early-stage trial tests a gene therapy called AAVrh.10hFXN for heart problems caused by Friedreich's ataxia, a rare genetic disease. The therapy delivers a working copy of the frataxin gene to help heart cells function better. 25 people aged 12 to 50 with heart involvement w…

This phase 2 trial is testing a new approach for people with a specific type of rectal cancer that has spread to a few other spots in the body (oligometastases). The treatment combines short-course radiotherapy, chemotherapy (CAPEOX), and an immunotherapy drug called serplulimab …

This 10-year study will follow 200 people with PKU who are taking or about to start Pegvaliase (Palynziq). Researchers will monitor immune reactions, inflammation, and lab results to better understand long-term safety. The goal is to improve management of side effects like allerg…

This study tests a new drug called INZ-701 in up to 16 infants (up to 1 year old) with rare genetic conditions (ENPP1 or ABCC6 deficiency) that cause dangerous calcium buildup in arteries and other problems. The main goal is to check the drug's safety and how the body handles it,…

This 10-year observational study is following 450 people with PKU who are taking or starting pegvaliase (Palynziq) to monitor long-term safety, especially allergic reactions. Researchers are tracking serious side effects like anaphylaxis, severe joint pain, and low phenylalanine …

This study looks at whether a team-based care program can help pregnant women with sickle cell disease (SCD) in a non-academic hospital in Ghana. The goal is to reduce the number of mothers who die during pregnancy or childbirth. About 198 women will take part, and their care wil…

This study tests whether a mobile health app and educational booklets can help adults with sickle cell disease reduce emergency room visits and hospital stays. Researchers will compare the app-plus-booklet approach to booklets alone in 287 participants. The goal is to see if givi…

This study tests a one-time treatment called CTX001, which uses CRISPR gene editing to modify a patient's own stem cells to produce more fetal hemoglobin. The goal is to reduce or eliminate the need for blood transfusions in people with transfusion-dependent beta-thalassemia or s…

This study tests an oral drug called osivelotor in about 389 adults and adolescents with sickle cell disease. The goal is to see if it can raise hemoglobin levels and reduce the number of painful vaso-occlusive crises. Participants will take the pill daily, and researchers will m…

This study tests whether a phenylalanine-free diet, similar to that used for a rare genetic condition, can safely lower high blood phenylalanine levels in critically ill adults in the ICU. High phenylalanine in these patients is linked to a higher risk of death and brain problems…

This study tests a new medicine called INZ-701 in babies up to 1 year old who have a rare genetic condition (ENPP1 deficiency) that causes severe hardening of the arteries and bone problems. The goal is to see if the drug can raise a key substance in the blood, improve survival, …

This phase 1/2 trial tests a single inhaled dose of gene therapy called 4D-710 in 30 adults with cystic fibrosis who cannot take standard modulator drugs. The therapy delivers a working copy of the CFTR gene directly to lung cells. The main goal is to check safety and side effect…

This study follows 15 adults (ages 22–90) with severe, long-term balance disorders caused by inner ear damage. Participants have already received a vestibular implant, a device that electrically stimulates the balance nerve to help restore steadiness and clear vision during movem…

This trial tests a new gene therapy called DREAM01 for people with severe sickle cell disease who cannot find a matching bone marrow donor. The therapy uses the patient's own blood stem cells, modified to produce healthy hemoglobin and block the sickle cell gene. Up to 15 partici…

This study is for people with a certain type of locally advanced rectal cancer (pMMR/MSS) that often doesn't respond well to immunotherapy alone. The trial combines an immunotherapy drug (serplulimab) with chemotherapy (CAPEOX) and an anti-inflammatory drug (celecoxib) to see if …

This early-phase study tests a single IV dose of NGGT002 gene therapy in 15 adults with phenylketonuria (PKU), a genetic disorder that causes harmful buildup of phenylalanine. The main goal is to check safety over one year, with long-term follow-up for five years. Researchers wil…

This trial tests a gene therapy called AAVAnc80-hOTOF for people with severe hearing loss caused by mutations in the otoferlin gene. The therapy is given as a single injection into the inner ear during surgery. The study will check if the treatment is safe and if it can improve h…

This study tests an oral drug called NEO212 in people with specific brain tumors (astrocytoma, glioblastoma) or cancers that have spread to the brain. The goal is to find the safest dose and see if it helps control tumor growth. About 134 adults will take NEO212 alone or with sta…

This study tests a single dose of a gene therapy called AB-1003 in 10 adults with a rare genetic muscle disease (LGMD2I/R9). The goal is to see if it is safe and can help improve muscle function. Participants must be able to walk or run 10 meters in under 30 seconds.

This expanded access program offers a special stem cell purification technique (CD34+ selection) for patients undergoing stem cell transplants. The method removes many T-cells from the donated stem cells, which lowers the risk of a serious complication called graft-versus-host di…

This early-phase trial is testing a new drug called 177Lu-RAD204, which is a radioactive antibody designed to seek out and destroy cancer cells that have a protein called PD-L1 on their surface. The study will involve 30 adults with advanced solid tumors (like lung, breast, or sk…

This study tests whether giving regular blood transfusions during pregnancy can reduce sickle cell complications and pregnancy-related problems in women with sickle cell disease. About 50 pregnant women will be randomly assigned to receive transfusions or standard care. The goal …

This trial tests the safety of tolvaptan, a drug that helps the body remove extra water, in 20 children aged 28 days to 18 years with autosomal recessive polycystic kidney disease (ARPKD). The goal is to see if the drug can slow kidney function decline and reduce the need for dia…

This study tests whether adding urea to the dialysis fluid can prevent dialysis disequilibrium syndrome — a set of neurological symptoms like headache, confusion, and seizures — in people with kidney failure who need urgent dialysis for severe electrolyte problems. Researchers wi…

This early-phase trial is testing a new treatment called CS-101 for severe sickle cell disease. It uses a person's own blood stem cells, which are gene-edited in a lab to correct the disease, then given back as a one-time infusion. The study will enroll 5 people aged 12 to 35 and…

This early-stage trial tests a cream called ATR12-351 for Netherton syndrome, a rare genetic skin condition. The cream contains live bacteria that produce a protein missing in people with the disease. Twelve adults will apply the cream to one side of their body and a placebo to t…

This study offers a second stem cell transplant to people with sickle cell disease or beta-thalassemia whose first transplant is losing its effect. Participants receive donor stem cells along with drugs to help their body accept them. The goal is to restore donor cell levels and …

This early-phase trial is testing whether certain cystic fibrosis drugs, called CFTR modulators, can help people with rare gene mutations that are not currently approved for these medications. The study will enroll 20 participants aged 6 and older and measure changes in lung func…

This long-term follow-up study tracks 50 patients with sickle cell disease who received the experimental gene therapy BEAM-101. The goal is to monitor safety, side effects, and overall health for up to 15 years after treatment. Participants will have regular check-ups to see how …

This phase II trial is testing a stem cell transplant from a half-matched donor for people with severe sickle cell disease. Participants receive chemotherapy, radiation, and immune-suppressing drugs before the transplant to help the new cells take hold. The main goal is to see if…

This early-stage trial tests a new medicine called IMSB301 in people with rare diseases where the immune system attacks the body. The study includes up to 6 participants aged 12 and older. The main goal is to check if the drug is safe and how it behaves in the body.

This study is the first time the drug RCT2100 is being tested in humans. It aims to check the safety and tolerability of single and multiple doses in healthy adults and people with cystic fibrosis (CF). The trial will also see how the drug spreads in the body and gather early pro…

This study tests a vestibular implant in 15 older adults (ages 65-90) with chronic balance issues due to bilateral vestibular hypofunction. The implant electrically stimulates the inner ear to improve balance and vision. Researchers will measure changes in gait and eye reflexes o…

This early-phase trial tests a single injection of JWK010 gene therapy in 18 children aged 5 to 12 with oculocutaneous albinism type 1 (OCA1). OCA1 is caused by a gene change that prevents the body from making pigment, leading to vision problems and light sensitivity. The therapy…

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This study tests a vestibular implant, a device surgically placed in the inner ear to electrically stimulate balance nerves. It aims to improve balance, posture, and vision in up to 8 adults with bilateral vestibular hypofunction, a condition causing chronic dizziness and instabi…

This early-stage trial is testing the safety of a drug called panobinostat in 18 adults with sickle cell disease. The drug aims to boost fetal hemoglobin and reduce inflammation, which may help control the disease. Participants take capsules three times a week for 12 weeks, and r…

This study aims to find effective treatments for people with cystic fibrosis who have rare gene mutations not covered by current drugs. Researchers will test FDA-approved CF drugs on nasal cells in the lab, then confirm the best option in a personalized N-of-1 trial. Up to 50 par…

This study is testing four new powdered protein substitutes made from a milk protein called GMP for people with PKU and tyrosinemia. These conditions require a special low-protein diet, and current formulas can be hard to tolerate. Over 29 days, researchers will check how well 40…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This early-stage trial tests a gene therapy called NGGT002 for adults with classic PKU, a genetic disorder that makes it hard to break down an amino acid called phenylalanine. The treatment delivers a working copy of the missing gene via a single IV infusion. Researchers will mon…

This study tests whether a one-year program of remote exercise sessions and personalized diet advice can increase lean muscle mass in 100 adults with cystic fibrosis who are already taking the drug Trikafta. The program is designed to address new nutritional challenges, like weig…

This trial tests atezolizumab, a drug already approved for several cancers, in people with rare cancers that have high tumor mutational burden (TMB) or microsatellite instability (MSI). The goal is to see if the drug can shrink tumors or stop them from growing for at least 24 wee…

This phase 2 trial is testing whether giving the immunotherapy drug toripalimab, with or without the anti-inflammatory drug celecoxib, before surgery can improve outcomes for people with a specific type of colorectal cancer (dMMR/MSI-H). About 270 participants will receive the dr…

This program offers extra stem cells from a half-matched family donor to patients who are getting a cord blood transplant for serious blood cancers or immune disorders. The goal is to help the bone marrow recover more quickly while the cord blood cells take over permanently. It i…

This study tests whether early heart screening and treatment for iron overload in people with sickle cell disease can prevent heart problems and reduce hospital stays. About 100 adults with sickle cell disease and high iron levels will receive regular heart imaging and follow-up …

This study is testing the safety of a drug called gallium nitrate in 40 adults with cystic fibrosis who have a difficult-to-treat lung infection called NTM. Participants will receive two 5-day cycles of the drug through an IV. The main goal is to see if the treatment is safe and …

This study tests whether giving a drug called daratumumab before a stem cell transplant can prevent a serious complication called pure red blood cell aplasia in children with sickle cell disease. The transplant uses a gentle, low-intensity approach and a matched sibling donor. Ab…

This study is testing whether giving hydroxyurea twice a day works better than the usual once-daily dose for children with sickle cell disease. About 50 children aged 9 months to 11 years will take the drug for 12 months. Researchers will measure how the drug behaves in the body …

This study tests a personalized way to dose hydroxyurea for children with sickle cell anemia. Instead of using weight alone, doctors will measure how each child's body processes the drug to find the best dose. The goal is to see if this approach reduces damage to the brain, kidne…

This study tests a new medicine called etavopivat in 27 children aged 12-16 with sickle cell disease who are at higher risk for stroke. Participants take one daily pill for a year, and doctors use ultrasound to measure blood flow in the brain. The goal is to see if etavopivat can…

This early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…

This early-phase study tests a new oral drug called SYN818 combined with olaparib in 110 adults with advanced solid tumors, including ovarian and breast cancers that have BRCA mutations or related DNA repair problems. The main goals are to find a safe dose and check for side effe…

This trial tests whether giving the immunotherapy drug camrelizumab before surgery can help completely remove T4 colon cancers that have a specific genetic feature (dMMR). These cancers often don't respond well to standard chemotherapy. The study will enroll 18 adults who will re…

This early-stage trial tests the safety of three experimental drugs (SION-451, SION-2222, and SION-109) given together to healthy adults aged 18–55. The study aims to see if the combinations are safe and how the body processes them. It is a first step toward possibly developing a…

This study tests a mobile health information system to help clinics in Uganda screen newborns for sickle cell disease and coordinate their care. Researchers will compare clinics using the new system to those using standard screening. The goal is to see if the system helps more ba…

This study is working on a new blood test for pregnant women that can check for serious genetic conditions like cystic fibrosis, spinal muscular atrophy, and sickle cell disease. Researchers will collect blood samples from 4,000 pregnant women who are at higher risk of passing on…

This study is testing a special MRI scan that uses xenon gas to take detailed pictures of lung function. It includes 260 healthy volunteers and people with lung diseases like asthma, COPD, and cystic fibrosis. The goal is to see if this method can better detect and measure lung p…

This study is testing a new blood test that can diagnose single-gene disorders in unborn babies using a sample from the mother. The test looks at fetal DNA found in the mother's blood, which is safer than traditional invasive methods that carry a small risk of miscarriage. Resear…

This study looks at whether a bedside ultrasound (POCUS) can help doctors quickly diagnose acute chest syndrome in children and young adults with sickle cell disease. Researchers will enroll 30 hospitalized patients aged 0-25 to see if the ultrasound is practical and reliable com…

This study is testing a new 3D automated ultrasound system called ATUSA to see how well it can image suspicious breast lesions. Up to 800 women with suspicious findings on standard imaging will get an ATUSA scan before their biopsy. The goal is to collect images and compare them …

This study is testing a blood test (called a liquid biopsy) to see if it can find colorectal cancer, pre-cancerous growths (adenomas), and cancers linked to Lynch syndrome at an early stage. Researchers will enroll 1,200 people who have already had a colonoscopy. The goal is to s…

This study tests a new, low-cost skin sensor that measures salt in sweat to diagnose cystic fibrosis. Researchers will compare the device to the standard lab test in 30 adults—some with CF and some healthy. The goal is to see if the sensor is accurate enough for routine use.

This study is testing a special skin sensor to see if it can accurately measure hydration levels in people with sickle cell disease. Dehydration can trigger painful crises, so a quick, non-invasive way to check hydration could help guide treatment. The study will involve 30 parti…

This study tests whether a smartphone app (AWARE) can accurately detect and monitor lung diseases like asthma, COPD, and cystic fibrosis by analyzing sound waves from the phone's speaker and microphone. Researchers will enroll 800 people aged 8-70, including healthy volunteers an…

This study is testing a new type of MRI scan called eASL that measures blood flow in the brain without needing a contrast injection. It will include 50 children with conditions like Moya-moya or sickle cell disease that affect brain arteries. The goal is to see if eASL gives clea…

This study looks at whether a liquid medicine called Xromi (hydroxycarbamide) can safely prevent painful complications of sickle cell disease in children aged 9 months to 2 years. About 180 children will take part, with some receiving Xromi and a comparison group of similar child…

This study tests whether hydroxyurea, a drug already used for sickle cell disease, can prevent strokes in 220 high-risk children in Nigeria. Children with sickle cell anemia and abnormal blood flow in the brain will receive low then moderate doses of hydroxyurea. The goal is to s…

This study tests a smartphone program called NUDGE that acts like a health coach for teens and young adults (ages 13-25) with cystic fibrosis. Participants set activity goals, track progress, and get feedback through the app. The goal is to see if the app helps them stay active a…

This study tests whether the birth control shot Depo-Provera can reduce painful sickle cell episodes in women. Sixty-five women with sickle cell disease who have frequent pain will be monitored for 3 months without the shot, then for 3 months after receiving it. Researchers will …

This study tests whether using virtual reality (VR) goggles during a sickle cell pain crisis can help children and young adults feel less pain. Participants will either get standard pain treatment alone or standard treatment plus a calming VR underwater experience. Researchers wi…

This study tests an investigational drug called CSL889 in 70 adults and adolescents with sickle cell disease who are having a painful vaso-occlusive crisis. The goal is to see if the drug can safely shorten the crisis and reduce the need for strong pain medicines. Participants wi…

This study tests a program called SCThrive, which includes virtual group sessions and a mobile app, to help 260 teens and young adults (ages 13-21) with sickle cell disease take charge of their health. Participants will complete surveys before, after, and 3 months after the 8-wee…

This study tests a 12-week exercise and nutrition program called SickleFit in 40 adults aged 35 and older with sickle cell disease. The goal is to see if the program is safe, doable, and liked by participants. It does not aim to cure the disease but to improve fitness and quality…

This study tests a program called PRISM that aims to help teens and young adults with sickle cell disease build resilience and cope better. Researchers will check if the program is easy to use and liked by participants. They will also see if it helps reduce depression, anxiety, a…

This study is testing whether a type of talk therapy called acceptance and commitment therapy (ACT) can help Black teenagers and young adults with sickle cell disease feel less stressed, anxious, and depressed. About 66 youth and their parents will join group therapy sessions and…

This study tests whether a special cooling cap can prevent hair loss in children receiving chemotherapy for non-cancerous conditions or solid tumors. The cap is worn before, during, and after chemo to keep the scalp cool. Researchers want to see if it is safe and tolerable for 40…

This study examines whether the drug omaveloxolone can ease swallowing difficulties in people with Friedreich's ataxia, a rare nerve disease. About 40 French patients who have taken the drug for at least six months will fill out a swallowing questionnaire. The goal is to see if t…

This pilot study tests whether Maralixibat, a drug that increases bile acids in the colon, can improve stool consistency in 20 children with cystic fibrosis who have chronic constipation. Participants will take the drug for two weeks alongside their usual laxatives. The goal is t…

This pilot study at St. Jude Children's Research Hospital is testing whether a daily dose of extended-release methylphenidate (Ritalin) can safely improve attention, thinking, and school performance in children aged 8 to 17 with sickle cell disease. The trial will enroll 72 parti…

This study tests whether a natural substance called citrulline, given through an IV, can help children and teens with sickle cell disease recover faster from severe pain episodes. About 99 hospitalized participants aged 4 to 21 will receive either citrulline or a placebo for 16 h…

This study tests whether upper and lower limb exercises can improve muscle strength, aerobic capacity, and lung function in children aged 6-18 with cystic fibrosis. Participants will do arm or leg cycling exercises. Researchers will measure changes in walking distance, lung funct…

This study looks at whether following a Mediterranean diet can help reduce chronic pain in people with sickle cell disease. About 30 adults with sickle cell disease who have pain most days will try the diet and report their pain levels. Researchers will also check changes in gut …

This study looks at whether giving less IV fluid to people with sickle cell disease during a painful crisis works just as well as giving more fluid, while possibly causing fewer side effects like fluid overload. About 394 adults with sickle cell disease will be randomly assigned …

This study tests whether tenapanor, a drug already approved for irritable bowel syndrome with constipation, can help people with cystic fibrosis who have constipation. Twenty-five adults will take a 50 mg tablet twice daily for 4 weeks and track their bowel movements and symptoms…

This study looks at whether 3D-printed dentures fit better and make patients happier than traditional acrylic dentures in people with ectodermal dysplasia, a rare condition that affects teeth and other body parts. About 11 people aged 10 to 35 who have some remaining teeth will t…

This study is testing whether a low dose of ketamine, given alongside standard pain medicine, can better control severe pain from sickle cell disease in children and young adults aged 5 to 20. Participants will receive either ketamine or a placebo infusion, and researchers will m…

This study tests whether a self-help version of Acceptance and Commitment Therapy (ACT), delivered via smartphone, can reduce anxiety and depression in adults with cystic fibrosis. About 60 participants will use the toolkit and report their symptoms. The goal is to improve mental…

This study tests whether a stress management and mindfulness program can improve quality of life for adults with sickle cell disease. The program includes techniques from cognitive-behavioral therapy, relaxation exercises, and mindfulness meditation. Researchers will enroll 50 pa…

This study tests a telehealth program called C-READY that helps teens with sickle cell disease improve thinking skills like planning and problem-solving. The goal is to prepare them to manage their own health care as they grow up. About 120 teens aged 10-18 will take part, and th…

This study explores whether writing and playing songs with a music therapist can help teens (ages 11-18) with sickle cell disease feel less anxious and more resilient. Thirty participants will try the songwriting program and report changes in anxiety, mood, and pain-related stres…

This study tests a 12-week supervised rehabilitation program for people with two rare genetic conditions that cause walking and balance problems (spastic ataxias). The program includes twice-weekly therapy sessions and once-weekly pool exercises. Researchers want to see if it red…

This study tests whether a smartphone-based mindfulness program is practical and liked by teens and young adults (ages 15-39) with sickle cell disease who have chronic pain or sleep problems. Participants use a guided meditation app for about 8 weeks. The goal is to see if people…

This pilot study tests a wellness program for adults with cystic fibrosis (CF) to see if it helps with fatigue, sleep, and physical activity. The program includes 8 coaching sessions on topics like balancing activity and rest, improving sleep, and managing stress. Researchers wil…

This study is testing whether music therapy can help improve quality of life for people with sickle cell disease. About 90 teens and adults will be split into three groups: in-person music therapy, a mix of in-person and virtual music therapy, or health education sessions. The ma…

This study tests whether online group cognitive behavioral therapy (CBT) can reduce depression, anxiety, and other mental health symptoms in adults with cystic fibrosis and their caregivers. Participants will attend 13 sessions via Zoom and be compared to those receiving supporti…

This study tests whether using a CPAP breathing mask during radiation therapy for early-stage breast cancer can lower radiation doses to the heart and lungs. About 53 women with left-sided breast cancer will receive radiation with CPAP support. The goal is to reduce long-term hea…

This study tests a small device that gently stimulates nerves in the ear to see if it can help relieve pain in children with sickle cell disease during a pain crisis. About 20 children hospitalized for pain will try the device. The main goal is to see if kids can tolerate it and …

This study tests if focused or radial shockwave therapy can improve erectile dysfunction and chronic pelvic pain better than a fake (sham) treatment. It includes 186 men, some with a history of prostate cancer. Participants will receive several sessions of shockwave or sham thera…

This study tests whether a dental mouthpiece (MAD) works as well as a CPAP machine to improve thinking and memory in people with sleep apnea who also have mild memory problems. About 260 adults aged 45 and older will be randomly assigned to use either device for one year. Researc…

This study tests a new liquid drug called HBI-002, which contains carbon monoxide, in 9 people with sickle cell disease aged 14 to 55. Participants take the drug daily for 14 days to see if it is safe and helps with symptoms. The goal is to find a better way to manage this painfu…

This study tests whether a digital cognitive behavioral therapy (CBT) program, with or without a peer health coach, can reduce pain and opioid use in 470 teens and young adults (ages 16–30) with sickle cell disease and chronic pain. Participants use an app to track pain and mood,…

This study tests whether using virtual reality (VR) alongside standard care can reduce pain for adults with sickle cell disease who are in the emergency department with a painful crisis. About 30 participants will be split into three groups to compare pain scores and comfort. The…

This study tests a short-term behavioral program called Show Me FIRST to help teens with PKU manage anxiety and depression. Thirty adolescents will be randomly assigned to receive the program right away or after a wait period. The researchers will also check if new phone-based te…

This study tests whether a web-based mobile app can help 272 teens and young adults with sickle cell disease learn to manage their symptoms and care for themselves. Participants use the app to track symptoms and get tips, and researchers measure how well they take charge of their…

This study tests an injection called KP-100LI for people with vocal fold scars that cause voice problems. About 62 adults will receive either the study drug or a placebo to see if it improves voice function over 24 weeks. The goal is to confirm the treatment is safe and effective…

This study is testing a smartphone app called OnTrackCF, designed to help adults with cystic fibrosis remember to take their CFTR modulator medication and track their symptoms. The app sends up to 3 daily support messages and shows users their adherence levels. Researchers want t…

This study tests if oral ketamine can help control severe pain from sickle-cell crises in teens and young adults (ages 12–24). Participants receive the drug every 8 hours for 48 hours alongside standard pain care. The goal is to find better ways to manage pain and reduce the need…

This study tests a group telehealth program called I-STRONG for teens with sickle cell disease who have chronic pain. The program combines mind-body skills with movement training to help teens cope better and reduce fear of pain. Researchers will enroll 155 teens aged 12-18 to se…

This study looks at whether using a CPAP machine at night can lower dangerously high blood pressure that happens when people with autonomic failure lie down. About 12 participants will use CPAP or a placebo pill/patch. The main goal is to see if CPAP reduces blood pressure while …

This study looks at whether acupuncture can reduce pain in people with sickle cell disease. Researchers will also use brain scans and other tests to understand how acupuncture works. The study involves 120 participants aged 14 to 80 who have chronic pain or recent pain crises.

This study tests whether dronabinol, a drug made from cannabis, can reduce chronic pain and inflammation in adults with sickle cell disease. About 60 participants will receive either dronabinol or a placebo to see if it improves pain and quality of life. The goal is to find a new…

This study tests a new MRI method that uses an inhaled gas to create detailed images of lung ventilation in people with cystic fibrosis. Researchers will track 30 adults with mild lung disease over a year, comparing the MRI results to standard breathing tests. The goal is to see …

This study looks at whether a Mediterranean diet can improve gut health in children with cystic fibrosis. Twenty kids aged 3 and older will follow this diet for 6 months. Researchers will check changes in gut bacteria and inflammation markers. The goal is to offer better diet adv…

This study aims to learn more about methylmalonic acidemia (MMA) and related disorders by observing people with these conditions over time. Researchers will track complications, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better unders…

This study looks for better ways to find harmful bacteria in the lungs of people with cystic fibrosis. Traditional sputum tests are becoming harder to use because newer CF treatments reduce mucus. Researchers will collect samples like saliva, blood, urine, and breath from 300 par…

This study follows 900 people with bronchiectasis—a condition where airways are damaged and prone to infection—to learn why they get sick repeatedly. Researchers will collect medical history, lung function tests, and blood, urine, and sputum samples from patients and their family…

This study is observing up to 3,500 people with immune system problems, including rare genetic conditions like chronic granulomatous disease and severe combined immunodeficiency. Researchers will track how these diseases change over time through blood tests, imaging, and checkups…

This study follows up to 3,500 people with sickle cell disease to learn more about how the condition progresses and what complications arise. Participants receive their usual medical care outside the hospital and visit the clinic for check-ups and research tests. No experimental …

This study explores a new type of MRI that uses an inhaled gas to create images of lung ventilation in children ages 6-17. Researchers will compare results between children with mild cystic fibrosis and healthy children to see if the technique is feasible and sensitive to early l…

This study looks at how mucus plugs in the lungs affect breathing in people with severe asthma. Researchers will use special MRI scans to see air flow in blocked areas. Only 5 adults with severe asthma will take part, and the goal is to better understand lung function, not to tes…

This study aims to find biological markers that can track the progression of Niemann-Pick type C (NPC), a rare genetic disorder that damages the nervous system. Researchers will evaluate 900 patients of any age through regular checkups, spinal taps, eye exams, and brain scans. Th…

This study looks at the bacteria, fungi, and viruses living on the skin, in the gut, and in the mouth of people with Netherton syndrome, a rare condition that damages the skin barrier and often causes allergies. Researchers will compare these microbes to those of healthy voluntee…

This study looks at how sleep problems might affect thinking, memory, and brain health in 65 people aged 12–25 with sickle cell disease. Participants will use a home sleep monitor and complete thinking tests during a clinic visit. The goal is to understand links between nighttime…

This study collects blood stem cells from adults aged 18-40 with DOCK8 deficiency, LAD-1, or GATA2 deficiency. Participants receive daily injections of G-CSF for 5 days to move stem cells into the blood, then undergo a single leukapheresis procedure to collect them. The cells are…

This study aims to learn more about non-tuberculous mycobacterial (NTM) infections, which cause repeated lung and other organ infections. Researchers will study up to 1,000 participants to understand the genetics, symptoms, and best treatments for these infections. The study also…

This study follows children and adults worldwide who have a rare genetic muscle disease called TNNT1 myopathy. Researchers aim to document how the disease progresses over time, including survival and motor milestones. The goal is to identify reliable measures that can be used in …

This study looks at how parents and doctors handle the moment a newborn is diagnosed with phenylketonuria (PKU) through routine screening. Researchers will interview 80 parents and medical staff to understand the emotional impact and find ways to improve how the diagnosis is shar…

This study tracks 253 cystic fibrosis patients starting a new drug combination (elexacaftor/tezacaftor/ivacaftor). Researchers collect sputum, stool, and blood samples at the start, 6 months, and 1 year to see how the drug changes bacteria and inflammation in the lungs and gut. T…

This study collects biological samples like blood, saliva, and urine from 300 adults aged 18-70, both with and without blood disorders such as sickle cell disease and thalassemia. The goal is to use these samples for research to better understand these conditions and related dise…

This study is creating the first large database for Niemann-Pick type C (NPC), a rare disease that damages the brain, liver, and spleen. Researchers will collect blood samples and medical records from 100 people with NPC to link their genes with their symptoms. The goal is to und…

This study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

This study looks at how the drug hydroxyurea affects women with sickle cell disease and their babies during pregnancy and breastfeeding. Researchers will review medical records from 200 women to measure drug exposure and compare health outcomes. The goal is to better understand t…

This study tracks 180 orthopedic patients in Cyprus to see if a single doctor visit changes how much they trust AI health information. Patients fill out surveys before and after their appointment, and doctors also report on the accuracy of any AI advice patients brought up. The g…

This study collects blood samples and health information from 375 people with non-cancerous blood disorders like aplastic anemia, sickle cell disease, or thalassemia who are receiving a stem cell transplant or gene therapy. The goal is to create a biobank that helps researchers u…

This study aims to determine how common sickle cell trait and sickle cell disease are across Uganda by analyzing up to one million blood samples. Researchers want to create a detailed map of where the condition is most prevalent, which could help improve healthcare planning. The …

This study looks at how genes play a role in lung diseases like cystic fibrosis, asthma, and pulmonary fibrosis. Researchers will examine DNA from up to 3,500 people with and without lung disease to find genetic differences. The goal is to better understand what causes these cond…

This study tests a program that helps teens and young adults (ages 15-25) with sickle cell disease work with their doctors to choose the best treatments. About 68 patients, their caregivers, and 8 doctors will take part. The program includes virtual reality or standard education …

This study is creating a central database and tissue bank for rare diseases affecting the kidneys and liver, such as ARPKD and Joubert syndrome. Researchers will collect medical information, genetic samples, and tissues from 200 participants to help doctors and scientists better …

This natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…

This study collects blood, bone marrow, and other samples along with health information from up to 1,716 people with non-cancerous blood diseases and their family members. Researchers will analyze the participants' genes to find new genetic causes of these conditions and understa…

This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

This study follows 65 people with Friedreich ataxia who also have a thickened heart muscle (cardiomyopathy). Researchers will measure changes in heart structure over time using imaging. The goal is to better understand how heart disease progresses in this condition, which could h…

This study collects blood samples from 250 adults with sickle cell disease, sickle cell trait, or healthy red blood cells. Researchers will use these samples to screen thousands of compounds, including FDA-approved drugs, to find ones that stop red blood cells from sickling. The …

This study looks at how differences in the PKLR gene might change sickle cell disease symptoms. Researchers will collect blood samples from 800 adults of African descent, with and without sickle cell disease, to measure certain proteins and energy molecules in red blood cells. Th…

This large study will follow 480 children with sickle cell disease to compare two treatment approaches: a stem cell transplant from a matched family donor versus standard disease-modifying therapies. The goal is to see which option leads to better quality of life and thinking ski…

This study will follow 10,000 people with sickle cell disease for many years, tracking their health during regular clinic visits. Researchers want to learn how the disease damages organs over time and how treatments like hydroxyurea might help prevent that damage. A smaller part …

This study looks at how the cystic fibrosis drug ETI affects the way the body handles antibiotics. Researchers want to see if people on ETI need lower antibiotic doses to treat lung infections, which could reduce harmful side effects like hearing loss or kidney damage. The study …

This study looks at whether girls with sickle cell disease have lower levels of a hormone called AMH, which is linked to egg supply, compared to healthy girls of the same age and puberty stage. Researchers will also check how treatments and pain crises affect these levels. About …

This study tests a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study follows up to 5,000 people with autoinflammatory diseases (like NOMID, CANDLE, and juvenile dermatomyositis) and their healthy relatives. Researchers will collect medical history, blood samples, and imaging over 2-5 day visits to learn how these diseases work and find …

This study tests whether a low-added-sugar, high-fat diet can reduce diabetes risk in adults with cystic fibrosis (CF). Sixty participants will receive either a low-sugar or standard CF diet for 8 weeks. Researchers will measure changes in insulin production, body fat, and blood …

This study is testing whether a specialized blood test (MAIPA) can accurately identify autoimmune thrombocytopenia (ITP) in patients with low platelet counts. Currently, ITP is diagnosed by ruling out other causes, which can be slow and uncertain. Researchers will collect blood s…

This early-stage study tests whether the drug motixafortide is safe for people with sickle cell disease and whether it can increase the number of stem cells that can be collected from their blood. These stem cells could be used in future gene therapies or transplants. The study i…

This study looks at how new cystic fibrosis drugs work in children ages 2 and older. Researchers want to find genetic clues that can tell us ahead of time who will respond well, so kids don't get unnecessary side effects or high costs from treatments that won't help them. About 1…

This study follows 180 children up to age 16 who have hearing loss caused by mutations in the GJB2 or OTOF genes. Researchers will regularly measure their hearing using standard tests and questionnaires to see how it changes over time. The goal is to better understand the natural…

This study is observing 400 people aged 12 and older who have noncirrhotic portal hypertension (NCPH) or are at risk for it. NCPH is a liver condition that increases blood pressure in the liver's blood vessels without causing cirrhosis, and often has no early symptoms. Researcher…

This study collects blood, nasal, and intestinal cells from 500 people with cystic fibrosis caused by rare mutations. The cells are stored in a bank and shared with researchers to test potential new drugs in the lab. It is a first step toward finding treatments for those who cann…

This study is for people with rare DNA repair disorders like Cockayne syndrome, xeroderma pigmentosum, or trichothiodystrophy. Researchers will watch how symptoms like movement and balance change over time. No treatments are given—the goal is to better understand these conditions…

This study aims to find genetic differences that explain why some people with sickle cell disease develop immune reactions to blood transfusions. Researchers will compare the genes of 50 participants who have had reactions with those who have not. The goal is to identify specific…

This study looks at whether certain molecules can fix nonsense mutations in the CFTR gene, which cause cystic fibrosis. Researchers will take cells from the noses of 85 people with cystic fibrosis and test different molecules to see which ones can restore the function of the CFTR…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study is building a large database of health information from 5,000 people with ALS and other motor neuron diseases. Participants share details like symptoms, test results, and disease progression during regular clinic visits. The de-identified data is then shared with resea…

This study looks at how the amount of muscle and fat in the body affects glucose tolerance and lung function in people aged 16-30 with cystic fibrosis. Researchers will use MRI scans and glucose tests to track changes over two years. The goal is to use this information to improve…

This early-stage study is testing a new drug called VX-581 in 128 healthy volunteers to see if it is safe and how the body processes it. The study is double-blind and placebo-controlled, meaning some participants get the drug and some get a dummy pill. This is a first step toward…

This study looks at adults with sickle cell disease to see how their heart, brain, kidneys, liver, and lungs change after treatments meant to cure the disease. Researchers will compare people getting curative therapy (like a bone marrow transplant or gene therapy) with those who …

This study tests ways to increase the use of hydroxyurea, a medicine that helps manage sickle cell disease, in Nigeria. Researchers will train healthcare workers and provide tools to help them prescribe and monitor the drug. The goal is to see if these strategies lead to more pat…

This study looks at how much protein adults with PKU need, based on their specific genetic mutation and the special medical foods they eat. Researchers will measure how the body processes a harmless tracer to find the right protein levels. The goal is to improve dietary recommend…

This study follows 80 children aged 2-8 with cystic fibrosis to see how highly effective CF drugs (Kalydeco or Trikafta) impact sinus disease and sense of smell. Researchers will use MRI scans, smell tests, and quality-of-life surveys over two years. The goal is to understand whe…

This study is not testing a new drug or treatment. Instead, researchers want to make sure their lab tests and equipment give accurate and repeatable results when studying conditions like obesity, diabetes, heart disease, and bone loss. Up to 100 healthy volunteers and people with…

This study looks at whether a special camp that teaches teens and young women with PKU or MSUD about their condition and nutrition can improve their pregnancy outcomes and quality of life. Researchers will compare the results of women who attended the camp to those who did not. T…

This study uses special cameras to take ultra-detailed pictures of the back of the eye in people with retinal diseases like macular degeneration and retinitis pigmentosa. Researchers aim to develop new ways to diagnose and track these conditions by measuring cell density and func…

This study interviews patients and families who have experience with gene therapy for rare pediatric diseases, including sickle cell disease. Researchers want to understand their beliefs, attitudes, and what information they need. The goal is to create an online platform with edu…

This early-stage trial is testing how the experimental drug repinatrabit interacts with several common medications, including birth control pills, metformin, and methotrexate. The study involves 48 healthy volunteers and will measure drug levels in the blood to see if combining t…

This study looks at why people with cystic fibrosis often develop kidney disease. Researchers will test blood and urine samples for early signs of kidney damage, comparing CF patients with and without frequent hospital stays, as well as people without CF. The goal is to find bett…

This study looks at why the heart gets damaged in people with sickle cell disease. Researchers will use special PET scans to measure blood flow to the heart during rest and stress. They will compare results from 40 young adults—some with sickle cell disease and some without—to se…

This study aims to find out why some people with sickle cell disease develop severe, disabling chronic pain while others do not. Researchers will enroll 70 participants aged 15 to 40 and use surveys, virtual visits, and in-person pain sensitivity tests to track pain and related o…

This study collects bone marrow that is normally thrown away during surgery from people with and without blood disorders like sickle cell disease. Researchers will use these samples in the lab to learn how to better manipulate stem cells for gene therapy and to study cell health.…

This study looks at how linaclotide, a drug for constipation, affects fluid in the gut. Researchers will use MRI scans to see where the drug works in the small and large intestines. The goal is to learn more about its effects, which could help design future studies for conditions…

This study looks at how genes and body chemistry are linked in adults with phenylketonuria (PKU) who were treated early in life. Researchers will analyze blood and saliva samples from 149 participants to find patterns that may explain differences in health and thinking skills. No…

This study looks at people with retinitis pigmentosa and similar eye diseases who already use a device called OkuStim® that sends mild electrical pulses to the eye. Many patients report temporary improvements in vision right after treatment, but these haven't been measured in a s…

This study talks to parents and teens with sickle cell disease to learn what they think about genetic research and gene therapy. Researchers will use surveys and interviews to understand concerns and expectations. The goal is to create better educational tools and build trust bet…

This study follows about 300 people with Friedreich's ataxia who are taking the prescribed drug omaveloxolone (SKYCLARYS®). Researchers will collect safety information from regular doctor visits for up to 5 years. The goal is to see how many participants have serious side effects…

This study tests advanced lung imaging (MRI with xenon gas) and breathing tests to better understand lung function in people with cystic fibrosis. 60 participants will be followed over time. The goal is to see if these new methods can detect changes more precisely than standard t…

This study looks at how certain natural chemicals in the body affect blood vessel health in people with pseudoxanthoma elasticum (PXE), a rare genetic disease that causes calcium buildup in tissues. Researchers will measure levels of these chemicals in 45 adults with PXE to bette…

This study tests whether a virtual 8-week school readiness program helps preschool children (ages 3.5–6.5) with sickle cell disease improve social skills, early reading, and math. About 36 children and their caregivers will take part. The goal is to see if the program is practica…

This study looks at 300 people with Lynch syndrome, a genetic condition that raises the risk of colorectal cancer. Researchers want to understand why some patients still develop cancer even with regular check-ups. They will analyze blood, gut bacteria, and hair samples to find cl…

This study is a large registry that collects health information from up to 200,000 people with blood disorders such as hemophilia, thrombosis, and sickle cell disease. Participants are seen at Hemophilia Treatment Centers across the U.S. The goal is to gather real-world data to h…

This study looks at how cystic fibrosis patients who take the drug combination Elexacaftor-Tezacaftor-Ivacaftor (ETI) breathe during exercise. Researchers will measure lung function while patients walk or step, aiming to find out how many have limited breathing capacity. The resu…

This study looks at whether giving mothers in Brazil an extra $40 per month (compared to just $2) can protect their children's brain development and mental health. About 450 children aged 7-10 from low-income families will be followed for 2 years. Researchers will measure stress,…

This study follows 170 adults with cystic fibrosis and chronic sinusitis to see if sinus surgery improves lung function and quality of life compared to medical treatment alone. Participants either have surgery or continue with standard care. Researchers will track changes in brea…

This study looks at how different meals before exercise affect amino acid levels in adults with phenylketonuria (PKU). Ten participants will try water, carbohydrates, or protein before doing aerobic and resistance exercises. Researchers will measure changes in blood amino acids t…

This study looks at how diet and eating habits affect the health of adults with sickle cell disease. Researchers will interview participants about their food intake and behaviors, and collect blood and urine samples. The goal is to understand links between nutrition and symptoms …

This study is building a special collection of blood and urine samples from 800 adults with sickle cell disease or sickle cell trait, along with some healthy volunteers. Researchers will use these samples and medical records to learn how kidney disease starts and gets worse in pe…

This study watches 150 adults with heart valve problems who are getting a procedure (TAVI or M-TEER) to see if it helps their sleep-disordered breathing. Participants take a sleep test before the procedure and again 6 months later. The goal is to learn how fixing heart valves mig…

This study is for people with certain autoinflammatory diseases (like NOMID, DIRA, CANDLE, SAVI, and others) and their healthy relatives. Researchers want to learn more about what causes these diseases and how they affect the body over time. Participants will have medical tests a…

This study is creating a registry for people with Shwachman-Diamond Syndrome (SDS) or similar conditions. Researchers will collect medical records and biological samples from up to 5,000 participants to understand how the disease progresses and what treatments work best. The goal…

This study uses high-resolution ultrasound to look at nerves in people with Friedreich ataxia, a rare inherited disease that damages the nervous system and heart. Researchers want to see if nerve size and blood flow are different in these patients. The goal is to find new ways to…

This Phase 1 trial tests the safety and how the body handles VX-272, an experimental drug for cystic fibrosis. About 128 healthy volunteers will receive single or multiple doses of the drug or a placebo. The study focuses on side effects and drug levels in the blood, not on treat…

The PROFA study is an international observational study that follows 200 people with Friedreich Ataxia (FA) across Germany, Austria, and France. Participants use a mobile app to report their quality of life, symptoms, and healthcare costs daily for six months. The goal is to unde…

This study looks at when to start a parent coaching program called JASPER Babble for infants who have an older sibling with autism, putting them at higher risk. About 140 babies will join at 6-8 months old and be randomly assigned to start coaching at 9, 12, or 15 months. Researc…

This study looks at how cystic fibrosis affects children's breathing, muscle strength, bladder control, and daily life compared to healthy kids. Researchers will measure grip strength, lung function, and other health markers in 50 children aged 6-18. The goal is to identify probl…

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

This study watches 200 people with cystic fibrosis to learn how their bodies react to standard treatments for severe lung infections. Researchers track symptoms, lung function, and collect samples to understand why some people recover better than others. The goal is to use this k…

This study is working to create better exercise tests for children with cystic fibrosis, sickle cell disease, or long COVID. Current tests are designed for healthy athletes and may not be safe or useful for these kids. Researchers will track 240 children over 3-4 years, measuring…

This study follows 50 pregnant women with phenylketonuria (PKU) who have taken the drug Palynziq (pegvaliase) around the time of pregnancy or while breastfeeding. Researchers will track pregnancy outcomes and infant health, including birth defects and development. The goal is to …

This study is looking for proteins and other markers in exhaled breath that could help doctors monitor lung inflammation and infections in people with asthma or cystic fibrosis. Researchers will collect breath samples from 450 participants (including healthy volunteers) and compa…

This study looks at how hormone levels change after a mixed meal in people with cystic fibrosis. Researchers want to find links to blood sugar problems common in this condition. About 61 adults aged 18-45 with cystic fibrosis will participate. No treatment is given; this is an ob…

This observational study aims to understand how the CFTR gene is regulated in epididymal cells, which may help explain male infertility linked to cystic fibrosis. Researchers will collect leftover tissue samples from 20 men already scheduled for surgery. No extra procedures are n…

This study follows 300 people with cystic fibrosis for one year to learn what triggers sudden worsening of symptoms, called exacerbations. Participants provide regular health data and samples, and some will also have extra clinic visits and home monitoring. The goal is to find ea…

This study is gathering information from 15 people with CACP syndrome, a rare genetic condition that causes joint problems and sometimes heart issues. Researchers want to better understand how the disease develops and changes over time. The goal is to improve diagnosis and care f…

This study tests two daily doses of zinc (25 mg and 40 mg) in 34 adults with sickle cell disease to see which dose works best for bone health. Participants take zinc for 12 weeks, and researchers measure changes in bone formation and breakdown markers. The goal is to pick the rig…

This study looks at whether breathing a lighter gas mixture (heliox) can make it easier to breathe and think clearly when breathing is hard. Fifteen healthy adults will breathe normal air or heliox while doing thinking tests. The goal is to see if reducing the work of breathing i…

This study looks for new genetic causes of congenital sideroblastic anemias, a group of rare blood disorders where the body cannot properly use iron to make red blood cells. Researchers will analyze DNA from 20 people whose genetic cause is still unknown. The goal is to find and …

This study looks at how quickly the kidneys clear morphine in sickle cell patients having a painful crisis. Researchers will measure kidney function and morphine levels in 100 intensive care patients to see if higher doses are needed for effective pain relief. The goal is to pers…

This study follows up to 150 people with hearing loss caused by changes in the otoferlin gene. Researchers will measure hearing function using tests like auditory brainstem response (ABR) and otoacoustic emissions (OAE). The goal is to learn how this type of hearing loss changes …

This study is testing two new types of lung MRI that use special gases (xenon and perfluoropropane) to create detailed images of lung function. Researchers will compare these scans in 30 people with cystic fibrosis, asthma, and healthy volunteers to see if they can spot lung prob…

This study follows 1,000 women newly diagnosed with epithelial ovarian cancer to see how their genetic makeup (BRCA and HRD status) influences their response to standard treatments. Researchers will track surgery outcomes, treatment response, and survival. The goal is to gather r…

This study aims to measure how long red blood cells survive in people with sickle cell disease, thalassemia, and other inherited blood disorders. Researchers will take a blood sample, label the red cells with biotin (a vitamin), and infuse them back into the participant. Over up …

This study watches 500 people with cystic fibrosis who are already taking CFTR modulator medicines. Researchers measure sweat chloride, nasal electrical activity, and rectal tissue responses to see how well the drugs improve CFTR protein function. The goal is to better understand…

This study is gathering detailed information from 470 adults with chronic inflammatory lung diseases like asthma, COPD, and cystic fibrosis, as well as healthy volunteers. Researchers will analyze clinical, biological, and lifestyle factors to identify distinct disease subtypes. …

This study looks at how the cystic fibrosis drug combination ETI (elexacaftor-tezacaftor-ivacaftor) behaves in children aged 2 to 17. Researchers will measure drug levels in the blood and see how they relate to the drug's benefits and side effects, such as liver problems or mood …

This study will follow 1,000 adults in Spain who are suspected of having obstructive sleep apnea (OSA) and daytime sleepiness. Participants will undergo standard sleep tests, blood pressure monitoring, and fill out questionnaires about their quality of life and sleepiness. Resear…

This study aims to understand the full burden of 9 rare skin diseases—including physical, emotional, social, and financial challenges—on patients and their families. Researchers will use special questionnaires to track how these conditions affect daily life and care needs. About …

This study aims to find genes that cause eye misalignment (strabismus) and related conditions involving the cranial nerves and brainstem. Researchers will analyze DNA from up to 20,000 participants with these disorders. The goal is to better understand the genetic causes, which c…

This study follows 60 people with Usher syndrome type 1B, a rare genetic condition causing deafness and progressive vision loss. Researchers will measure how vision changes over time using standard eye tests and new virtual reality tools. No treatment is given; the goal is to bet…

This study looks at how often people with cystic fibrosis and diabetes develop complications like eye, kidney, and nerve problems. Researchers will also check blood pressure and cholesterol. The goal is to better understand these risks in a diverse group of 200 adolescents and ad…

This study looks at how early childhood experiences—like breastfeeding, stress, and social factors—affect children with sickle cell disease. Researchers will test a community-based breastfeeding support program for mothers and track health outcomes like asthma and chest pain epis…

The SAFE study is a long-term research project following 250 adolescents and young adults with sickle cell anemia. It aims to understand how the medicine hydroxyurea affects growth, puberty, and the ability to have children. Researchers will also compare pregnancy outcomes betwee…

This study looks at whether what a doctor wears affects how much patients trust them. Researchers will survey 200 adults admitted to a hospital medical-surgical unit. Patients will rate their trust based on whether the doctor wears traditional attire (street clothes and white coa…

This study follows 750 people with sickle cell disease to see how curative therapies affect the heart, lungs, and kidneys over time. Researchers will compare those who received a stem cell transplant with those on standard treatment. The goal is to understand whether curative the…

This study is investigating whether germs called non-tuberculous mycobacteria (NTM) found in home water systems and dust can cause lung infections in people with cystic fibrosis. Researchers will collect samples from the homes of 120 CF patients—some with NTM infections and some …

This study is building a registry of 100 people with hearing loss caused by changes in the CABP2 gene. Researchers will collect hearing test results and genetic information to learn how the condition progresses over time. The goal is to better understand the disease, not to test …

This study follows 150 cystic fibrosis patients starting the drug combination Trikafta (ETI) to see how it affects their metabolism, DNA methylation, and gut bacteria. Researchers will measure blood fats, sugars, and immune markers, and link them to drug levels. The goal is to un…

This study looks at whether children with sickle cell disease (SCD) develop enough antibodies after getting the measles vaccine. Researchers will enroll 130 children aged 6 months to 6 years who are due for their measles shots. Blood samples will be taken a few weeks after each d…

This study follows 30 people with Zellweger Spectrum Disorder over 5 years to understand how their vision changes over time. Participants will have yearly vision tests, physical exams, and blood work. The goal is to define the course of retinal degeneration and find the best ways…

This study aims to understand why many people with cystic fibrosis develop diabetes. Researchers will give two gut hormones, GLP-1 and GIP, to 45 adults with cystic fibrosis and measure how their pancreas releases insulin. The goal is to learn more about cystic fibrosis-related d…

This study follows 45 people with PKU who are taking Palynziq to see how the drug changes their diet, brain health, and nutrition. Researchers will track protein intake and blood levels over time. The goal is to understand the full impact of Palynziq beyond just lowering phenylal…

This study is surveying 100 adults with cystic fibrosis to find out how many smoke or vape. Many people assume that patients with cystic fibrosis don't smoke, but there is almost no data on this. The results will help doctors improve tobacco prevention and understand how smoking …

This study looks at new ways to measure lung changes in people with cystic fibrosis (CF) aged 12 to 21. Researchers will use a special MRI with a breathable gas called Xenon, along with a lung function test called LCI, to see how stopping or restarting airway clearance treatment …

This study is collecting long-term safety and effectiveness data on treatments for various blood disorders, including hemophilia, sickle cell disease, and clotting disorders. It aims to enroll 3000 people of any age with these conditions. Researchers will monitor side effects, co…

This study aims to learn more about rare genetic diseases that affect both the immune system and the nervous system. Researchers will collect medical information and samples from 1,000 participants, including patients, their relatives, and healthy volunteers. The goal is to bette…

This study aims to find out how common acid reflux symptoms are in children with cystic fibrosis. Researchers will use a symptom questionnaire and, for some children, will stop their reflux medication to see if symptoms get worse. About 20 children aged 2 to 18 will take part.

This observational study looks at how CFTR modulator therapy affects the nose and sinuses in adults with cystic fibrosis. Researchers will compare bacterial communities, inflammation, sense of smell, and quality of life between patients on the therapy and those not on it. Partici…

This study looks at whether people with cystic fibrosis who are on highly effective modulator therapy can safely stop using nasal saline rinses and steroid sprays. Researchers will monitor sinus health, lung function, and quality of life in 64 adults. The goal is to see if these …

This study is testing whether wearable sensors that track things like heart rate and breathing can detect changes during a chest infection in adults with cystic fibrosis or bronchiectasis. Researchers will monitor 50 patients who are starting intravenous antibiotics for a lung in…

This study tests new brain imaging tools to measure oxygen flow in children with sickle cell disease. Researchers will compare healthy kids, untreated patients, and those who had gene therapy. The goal is to find better ways to decide when treatment is needed and how well it work…

This study follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…

This study follows 29 children with sickle cell disease who receive MEOPA gas for pain during a crisis. Researchers will check their vitamin B12 levels before and after treatment, and again at 7 days and 1 month. The goal is to see how often MEOPA causes a B12 deficiency and whet…

This study looks at whether a special eye scan can detect early blood flow changes in the retina of people with pseudoxanthoma elasticum (PXE), a rare genetic disease that can cause vision loss. Researchers will compare 30 PXE patients with 30 healthy volunteers matched by age an…

This study aims to learn how the binding of RNA with DNA (called R-loops) is linked to amyotrophic lateral sclerosis type 4 (ALS4) and other inherited neurological disorders. Researchers will observe up to 330 people aged 5 and older, including those with ALS4, related conditions…

This study aims to better understand bronchiectasis, a chronic lung disease, in Chinese patients. Researchers will collect data from 1500 adults to identify different disease types and their underlying causes. The goal is to improve diagnosis and tailor treatments for each patien…

This study enrolls 500 adults with nasopharyngeal carcinoma (stage I-III) who are receiving chemoradiotherapy with either proton or photon radiation. Researchers will collect imaging scans and blood samples to find markers that predict how well the cancer responds, side effects, …

This study aims to develop better MRI-based tools to measure kidney disease progression in people with Autosomal Recessive Polycystic Kidney Disease (ARPKD), a serious genetic condition with no approved treatments. Researchers will enroll 45 ARPKD patients and 15 healthy voluntee…

This study looks at how much physical activity and sitting time adults with cystic fibrosis have, especially those on the latest triple-combination drug. Researchers will ask 270 participants about their activity and use activity monitors on a smaller group. The goal is to unders…

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …

This study collects blood, airway, and urine samples from 2,000 healthy volunteers and people with lung diseases like COPD and pulmonary fibrosis. Researchers will compare samples to establish normal ranges and learn how genes change in lung disease. The goal is to better underst…

This study looks at how estrogen and other hormones affect bone development in teenage and young adult women with cystic fibrosis (CF). It has two parts: an observational study that tracks bone health in women using different types of birth control, and a small feasibility study …

This study follows 146 people with cystic fibrosis who recently became first-time parents. Researchers will track their lung function, mental health, and stress levels over five years using surveys and medical records. The goal is to understand how parenthood affects their health…

This study from the University of Florida is looking at how two genetic lung conditions—Alpha-1 antitrypsin deficiency and cystic fibrosis—affect immune cells called macrophages. Researchers will collect blood and measure lung function in 220 adults to see how well these cells wo…

This study follows 200 people with cystic fibrosis (ages 6 and up) who had mental health or liver issues while taking the drug elexacaftor/tezacaftor/ivacaftor (ETI) and had to stop or change it. They will now start a newer triple therapy called vanzacaftor/tezacaftor/deutivacaft…

This study follows up to 10 children under 2 years old with acid sphingomyelinase deficiency (ASMD) who are already receiving olipudase alfa (Xenpozyme®) as part of their routine care. Researchers will monitor side effects and immune responses over 1 to 3 years. No new treatment …

This study uses MRI scans to measure bone marrow fat and bone density in adolescents with cystic fibrosis compared to healthy teens. Researchers want to understand why bone problems occur in cystic fibrosis. The study involves 36 participants aged 13-20 and does not test any drug…

This study is testing whether an artificial intelligence (AI) tool can help match cancer patients with the right clinical trials. Researchers will enroll up to 50,000 people with various cancers to see if the AI improves trial enrollment rates and patient outcomes. The goal is to…

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

This observational study follows up to 5,000 people with Charcot Marie Tooth disease (CMT) types 1B, 2A, 4A, and 4C over five years. Researchers will measure symptoms, nerve function, and disability using special scales to understand how the disease changes over time. The goal is…

This study is for people with sickle cell disease or other rare anemias. Researchers want to use advanced genetic and blood tests to better understand each person's condition. The goal is to make diagnosis more precise so that treatments can be tailored to each patient. About 200…

This study follows 60 women with cystic fibrosis (CF) who are planning a pregnancy, pregnant, or new parents, along with their babies. Researchers will track lung function, nutrition, mental health, and pregnancy outcomes, as well as infant health issues like liver function and l…

This study is for people with cystic fibrosis (CF) who do not take CFTR modulators. Researchers will collect health information and samples over 12 months from 400 participants aged 12 and older. The goal is to use this data to design better clinical trials and develop new treatm…

This study creates a registry to collect health information from 200 people with rare forms of primordial dwarfism, such as MOPDII and Meier-Gorlin syndrome. Researchers hope to learn how these conditions change over a person's lifetime and improve future care. Participants provi…

This study looks at whether adults with cystic fibrosis can collect sputum samples at home and mail them in for infection testing, compared to standard clinic collection. With 150 participants, researchers will compare how well home samples detect bacteria like Pseudomonas aerugi…

This study looks at how Friedreich's ataxia affects the heart and nerves using advanced imaging, exercise tests, and biopsies. Researchers will track 203 people with the condition to find better ways to measure disease progression. The goal is to improve future treatment studies,…

This study is testing two genetic tests (Giscar and myChoice) to see if they can identify ovarian cancer patients whose tumors have a specific DNA repair problem (HRD). The goal is to see if these tests can predict which patients will respond well to platinum chemotherapy and may…

This study aims to better understand how the spleen filters and responds to abnormal blood cells in various diseases. Researchers will collect spleen tissue and blood from 100 adults undergoing planned splenectomy. By perfusing the spleen in the lab, they hope to uncover its role…

This study aims to learn how blood flow and oxygen use in the brain change as children grow, especially in those with sickle cell disease who are at risk for stroke. Researchers will use MRI scans and have participants breathe in small amounts of carbon dioxide to see how well th…

This study looks at fetal cells that remain in a mother's blood after pregnancy, called fetal microchimeric cells, in women with chronic skin ulcers like venous or diabetic ulcers. Researchers will analyze these cells' genetic activity to see if they might help with wound healing…

This study is looking at 50 adults with a rare genetic nerve disorder called RFC1-ataxia or CANVAS, which causes problems with balance, coordination, and sensation. Researchers will take blood samples and skin biopsies over 12 months to measure markers of cell stress and damage. …

This study looks at the genetic causes of nephronophthisis, a rare kidney disease that leads to kidney failure before age 20. Researchers will collect urine and blood samples from 310 patients and healthy relatives to study cells and identify potential drug targets. The goal is t…

This study looks at how blood flow and metabolism affect brain development in children with sickle cell anemia. Researchers will use MRI scans and a special mask to have participants breathe carbon dioxide, which helps measure how well brain blood vessels expand. The goal is to u…

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

This study compares a continuous glucose monitor (CGM) worn on the skin to the standard oral glucose tolerance test (OGTT) for detecting diabetes in adults with cystic fibrosis. The OGTT is time-consuming and often skipped, so researchers want to see if the CGM is a simpler and e…