Developmental defect during embryogenesis

This study looks at the long-term safety of a daily pill called lucerastat for adults with Fabry disease, a rare genetic disorder. About 107 people who completed a previous study will take the drug and be monitored for side effects over several years. The goal is to see if lucera…

This phase 2 trial tests whether a daily pill called miransertib can slow or stop the abnormal tissue overgrowth seen in Proteus syndrome, a rare genetic condition. About 38 people aged 3 and older will take the drug for up to 4 years. Researchers will measure changes in foot ove…

This study follows 165 children who previously took dabrafenib and/or trametinib for certain brain tumors. Researchers want to see if these drugs are safe over the long term and how they affect growth. The children continue their treatment and are monitored for side effects and d…

This study investigates whether combining the medication lovastatin with intensive reading tutoring can improve reading abilities in children and young adults (ages 8-20) with Neurofibromatosis Type 1 (NF1) who have reading disabilities. Participants first receive either lovastat…

This phase 3 study tests whether mitapivat, an oral medication, can safely reduce the number of blood transfusions needed by adults with transfusion-dependent alpha- or beta-thalassemia. Participants receive either mitapivat or a placebo for 48 weeks. The main goal is to see if m…

This phase 3 study tests whether venglustat, an experimental oral drug, can slow heart thickening better than current standard treatments in 104 adults with Fabry disease. Participants are randomly assigned to venglustat or usual care (enzyme replacement or migalastat) for 18 mon…

This study compares a targeted drug called selumetinib to standard chemotherapy (carboplatin/vincristine) in children aged 2 to 21 with neurofibromatosis type 1 (NF1) and low-grade glioma, a type of brain tumor. The goal is to see if selumetinib works as well or better at control…

This phase 3 trial tests an experimental drug called ALXN1850 in 124 adolescents and adults with hypophosphatasia, a rare genetic bone disease. Participants receive either the drug or a placebo by injection under the skin. The main goal is to see if the drug improves walking dist…

This study tests a stem cell transplant method for people with acquired or inherited bone marrow failure. Donor stem cells are specially processed to remove certain immune cells, which may lower the risk of graft rejection and graft-versus-host disease. The goal is to see if this…

This study tests two different tendon grafts (kneecap tendon vs. quadriceps tendon) for ACL reconstruction, with or without an extra stabilizing procedure called lateral extra-articular tenodesis (LET). The goal is to see which approach best prevents graft failure in 1,272 young,…

This study tests a drug called selumetinib in children and young adults (ages 3-18) with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be removed by surgery. The goal is to see if the drug can shrink or slow the growth of these tumors. Participants take the dru…

This early-stage study tests a combination of two drugs, avutometinib and defactinib, in children and young adults (ages 3 to 30) with advanced or recurrent solid tumors that have specific genetic changes. The main goal is to find the safest dose with the fewest side effects. The…

This study tests if a new growth hormone medicine (somapacitan) given once a week works as well as the standard daily growth hormone (Norditropin) for children who are very short due to being born small, or having Turner syndrome, Noonan syndrome, or unknown causes. About 412 chi…

This study looks at the long-term safety and effects of an experimental drug called DNL310 for people with Hunter syndrome (MPS II), a rare genetic disorder. About 99 participants who completed earlier studies will receive the drug for up to 5 years. Researchers will monitor side…

This study tests a granule (sprinkle) form of the drug selumetinib in children aged 1 to under 7 years who have neurofibromatosis type 1 (NF1) with painful, inoperable tumors. The goal is to find the right dose, check safety, and see if it shrinks tumors. About 36 children will t…

This Phase 3 study tests a new drug called JR-141 against the current standard treatment (idursulfase) in 86 people with Hunter syndrome (MPS II). The goal is to see if JR-141 can better reduce harmful substances in the brain and improve thinking skills. Participants can switch t…

This early-stage study tests a new treatment called TAR-210 in 5 Japanese patients with a type of bladder cancer that has specific genetic changes (FGFR mutations). The treatment is placed directly into the bladder to deliver the drug erdafitinib. The main goal is to see if it is…

This study tests a gene therapy called RGX-121 in children aged 4 months to 5 years with Hunter syndrome, a rare genetic disease that affects the brain and body. The therapy delivers a working copy of the missing gene to the central nervous system. Researchers will measure improv…

This study follows 150 people with long-chain fatty acid oxidation disorders (LC-FAOD) to check the long-term safety of their treatment, including for pregnant women and their babies. Researchers track serious side effects and disease complications. The goal is to better understa…

This study tests a new drug called ALXN1850 in children aged 2 to 12 with hypophosphatasia, a rare genetic condition that weakens bones. The trial compares the drug to a placebo to see if it improves bone health and movement. About 30 children who have not received prior treatmen…

This pilot study tests a fludarabine-based drug regimen to prepare children with bone marrow failure syndromes for a bone marrow transplant from a matched sibling donor. The goal is to help the donor cells successfully take root while reducing serious side effects. The study incl…

This study tests the long-term safety and effectiveness of pegtibatinase in people with classical homocystinuria (HCU), a rare genetic disorder that prevents the body from breaking down certain amino acids. About 100 participants who completed earlier studies will receive the dru…

This study tests a drug called trametinib in children with a rare blood cancer (juvenile myelomonocytic leukemia) that has returned or not responded to treatment. The drug works by blocking certain enzymes that help cancer cells grow. The goal is to see if it can shrink or contro…

This study looks at whether taking selumetinib with a low-fat meal reduces stomach problems in teenagers with neurofibromatosis type 1 (NF1) who have tumors that cannot be removed by surgery. About 24 teens will take the drug under both fed and fasted conditions to compare drug l…

This study follows about 200 people with Prader-Willi syndrome who are taking or starting VYKAT XR. Researchers will track side effects and how the drug affects their health over time. The goal is to gather more safety information, not to test if the drug cures the condition.

This study tests a new drug called DAY101 (tovorafenib) against standard chemotherapy for children and young adults with a type of brain tumor called low-grade glioma that has a specific gene change (RAF alteration). The goal is to see if the new drug works better at shrinking tu…

This study tests a drug called selumetinib in 32 Chinese children and adults with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be surgically removed. The goal is to check the drug's safety and how well it works at shrinking these tumors. Participants take the …

This study tests a drug called selumetinib in children and young adults with low grade glioma that has come back or not responded to other treatments. The drug works by blocking certain enzymes that help tumor cells grow. The goal is to find the best dose and see if it can shrink…

This study tests a new long-acting growth hormone (lonapegsomatropin) given once a week, compared to the standard daily growth hormone shot, in 48 prepubertal children with Turner syndrome who have not had growth hormone before. The goal is to see if the weekly shot is safe and h…

This study was designed to see if hyperbaric oxygen therapy or computerized cognitive training could help adults with Fetal Alcohol Spectrum Disorder (FASD) think and function better. It planned to enroll 0 participants and was withdrawn before starting, so no results are availab…

This study tests a custom-made drug for one child with a rare, severe brain disease called CONDBA, caused by a specific gene mutation. The drug aims to slow or stop brain damage by targeting the faulty gene. Researchers will track changes in movement, coordination, and quality of…

This study looks at whether adding rubber bands (elastics) to standard clear plastic retainers helps keep an underbite correction stable after orthodontic treatment. Researchers want to see if this simple addition can reduce the need for future jaw surgery. The trial involves 42 …

This study compares a single-stage surgery using implants coated with an antibiotic-loaded hydrogel to the standard two-stage surgery for treating chronic hip prosthesis infections. The single-stage approach aims to remove the infected implant and place a new one in the same oper…

This study compares a new medicine, ALXN1850, to the current standard treatment (asfotase alfa) in 43 children aged 2 to 12 with hypophosphatasia, a rare genetic condition that weakens bones. All children have been on the standard treatment for at least 6 months before joining. T…

This study tests a drug called mirdametinib in 114 adults and children with a genetic condition called NF1 that causes nerve tumors (plexiform neurofibromas) that cannot be removed by surgery and cause serious problems. The drug works by blocking a protein that helps tumors grow.…

This phase 2 trial tests whether bevacizumab, a drug that blocks blood vessel growth, can reduce chronic bleeding and iron-deficiency anemia in people with hereditary hemorrhagic telangiectasia (HHT). HHT causes abnormal blood vessels that bleed easily. The study involves 33 adul…

This study tests two ways to surgically repair spina bifida in the womb using a tiny camera. The goal is to close the spinal defect and reverse brain changes caused by the condition. About 110 pregnant women carrying babies with spina bifida will take part. The two methods are co…

This study is testing the long-term safety of a daily oral drug called zagociguat in 44 adults with MELAS, a rare genetic disease that affects energy production in cells. All participants previously completed a lead-in study of the same drug. Researchers will monitor side effects…

This phase 2 study tests a combination of two nucleoside drugs, doxecitine and doxribtimine, in 47 people with thymidine kinase 2 (TK2) deficiency, a rare genetic disorder that weakens muscles. Participants already receiving nucleoside therapy continue treatment to see if the dru…

This study follows 60 adults with Fabry disease who are receiving pegunigalsidase-alfa, a newer enzyme replacement therapy. Researchers want to see how well it works in everyday medical practice, especially for kidney function. Participants will be treated for 2 years at speciali…

This study checks the long-term safety of RGX-111, a gene therapy for people with MPS I (a rare genetic disorder). It follows 21 participants who already received the therapy in an earlier trial. Researchers will monitor side effects and measure changes in thinking and behavior o…

This phase 2 trial tests whether theophylline, a drug used for asthma, can help people with pseudohypoparathyroidism lose weight and improve blood sugar control. The study includes 29 obese participants aged 13 and older. Researchers will measure changes in body mass index and gl…

This study tests whether theophylline, a drug used for asthma, can help children and young adults with pseudohypoparathyroidism—a rare genetic condition causing early obesity, hormone problems, and short stature. Researchers will check for weight loss, better blood sugar control,…

This phase 2 trial tests theophylline, a drug used for asthma, in 34 children aged 2 to 12 with pseudohypoparathyroidism, a genetic condition causing obesity, short stature, and hormone resistance. The study aims to see if theophylline can help with weight loss, slow bone growth …

This study follows 41 children with Sanfilippo A (MPS IIIA) who previously received UX111 gene therapy in earlier trials. Researchers will monitor safety and how well the therapy controls the disease over time, using tests like the Bayley cognitive scale. No new gene therapy is g…

This phase 2 trial tests the drug trametinib in children and young adults (ages 1 month to 25 years) with low-grade glioma or plexiform neurofibroma that has not responded to prior treatment. Participants take a daily oral dose for up to 18 cycles. The study aims to see if the dr…

This study offers girls from birth to age 17 the chance to freeze their ovarian tissue before medical treatments that could harm their fertility, such as chemotherapy or radiation. The tissue is removed surgically and stored. Later, if they want to have children, the tissue can b…

This study follows 14 people with Fanconi Anemia who previously received RP-L102 gene therapy. Researchers will monitor their health for years to see if the treatment safely improves blood counts and reduces the need for a bone marrow transplant. The goal is to understand long-te…

This study follows 9 people with Fanconi Anemia who already received a gene therapy that adds a working FANCA gene to their blood stem cells. Researchers will check their health and blood counts for 15 years to see if the treatment remains safe and keeps working. No new treatment…

This was a planned early-stage study of a new drug called TER-1754 for people with hereditary hemorrhagic telangiectasia (HHT), a condition that causes frequent nosebleeds and abnormal blood vessels. The trial aimed to test safety and find the right dose, but it was withdrawn bef…

This study tests a minimally invasive fetoscopic surgery to repair spina bifida in unborn babies. The goal is to close the spinal defect and reverse brain herniation while reducing risks like uterine rupture and preterm birth that come with open fetal surgery. Thirty pregnant wom…

This program offered vatiquinone, an experimental liquid medication, to patients with inherited mitochondrial diseases like Leigh syndrome who had already completed a previous safety study. The goal was to continue treatment for those who might benefit, but enrollment is now clos…

This study tests whether a person's own stem cells can be safely injected into the spinal fluid to treat multiple system atrophy (MSA), a rare and serious brain disease. About 30 adults aged 30-80 with MSA will receive the treatment. The main goal is to check for side effects, an…

This study tests three ways emergency responders help children breathe: a bag-mask, a throat tube, or a breathing tube. It includes 3,000 children under 18 with cardiac arrest, severe injury, or breathing failure. The goal is to see which method leads to more days alive and out o…

This study tests the safety and how the body processes migalastat in 14 adults with Fabry disease who have severe kidney impairment or are on dialysis. Participants take migalastat capsules, and researchers measure drug levels in blood and dialysate. The goal is to ensure proper …

This study tests whether adding everolimus to the existing drug lonafarnib can better control progeria, a rare disease that causes rapid aging in children. About 80 children with confirmed progeria will take both pills by mouth. The first part finds the safest dose of everolimus,…

This study tests whether high-dose nicotinamide (vitamin B3) is safe and can help people with dominant optic atrophy, a rare genetic disease that slowly damages the optic nerve and causes vision loss. Researchers will give 25 adults 3 grams of nicotinamide daily and monitor for s…

This early-phase trial tests an experimental drug called radiprodil in 30 people with tuberous sclerosis complex or focal cortical dysplasia type II whose seizures have not responded to at least two other medications. The study is open-label, meaning everyone gets the drug, and w…

This study tests the drug sirolimus (rapamycin) in 15 people aged 6 months to 55 years with genetically confirmed Leigh syndrome, a rare and serious mitochondrial disease. The goal is to see if the drug is safe and can help with symptoms like muscle weakness and developmental del…

This study tests a bone marrow transplant method that avoids harsh chemotherapy and radiation for people with dyskeratosis congenita, a genetic disorder causing bone marrow failure. The goal is to fix the blood system without worsening lung or liver disease or raising cancer risk…

This study tests a new gene therapy for boys with Hunter syndrome, a genetic disorder that damages the brain and body. The therapy uses the child's own blood stem cells, modified to produce the missing enzyme, and aims to stop disease progression. Five boys aged 3 to 22 months wi…

This early-phase study tests a new drug called ERAS-601, alone or with other cancer treatments, in adults with advanced solid tumors that have not responded to standard therapies. The main goals are to find safe doses and check for side effects. About 90 participants will take pa…

This Phase 2b trial tests an oral drug called zagociguat in 43 adults with MELAS syndrome, a rare genetic disorder that causes fatigue, muscle weakness, and stroke-like episodes. Participants take either 15 mg, 30 mg, or a placebo daily for 12 weeks. The study measures changes in…

This study tests the drug selumetinib in adults with neurofibromatosis type 1 (NF1) who have painful, inoperable nerve tumors called plexiform neurofibromas. About 145 participants will receive either selumetinib or a placebo to see if the drug can shrink the tumors and reduce pa…

This study tests whether a special fish-oil emulsion given through an IV can improve outcomes for newborns with a diaphragm defect that causes severe lung pressure. About 40 babies will receive either the fish-oil emulsion or a standard soy-oil one. Researchers will measure lung …

This study tests whether a low dose of pazopanib, a drug currently used for cancer, can reduce severe nosebleeds and improve anemia in people with hereditary hemorrhagic telangiectasia (HHT). About 70 participants will take either the drug or a placebo daily for 24 weeks. Researc…

This study tests a new drug called VAD044 in 75 adults with hereditary hemorrhagic telangiectasia (HHT), a condition that causes frequent nosebleeds and anemia. The first part compares two doses of VAD044 against a placebo to see if it safely reduces the number, length, and sever…

This study tests a drug called vosoritide in 56 children with short stature caused by certain genetic conditions. The drug targets the growth plate to help children grow faster. Participants are observed for 6 months, then treated with daily injections for 12 months to check safe…

This phase 3 trial is testing the safety of pitolisant in 150 people with Prader-Willi syndrome who have already taken the drug in a previous study. Participants will receive pitolisant tablets and be monitored for side effects. The goal is to see if pitolisant is safe for long-t…

This early-phase study tests a new drug called E7090, alone or with other cancer medicines, in people with a common type of advanced breast cancer (ER+, HER2-). The main goal is to find safe doses and understand side effects. About 51 participants will take part to guide future r…

This study tests a gene therapy called RGX-111 for people with MPS I, a rare genetic disorder that damages the brain and body. The therapy delivers a working copy of the missing IDUA gene directly into the fluid around the brain. The trial aims to check if the treatment is safe a…

This study is testing a new device called a multichannel vestibular implant for people who have lost most or all of their balance function due to inner ear damage. The implant electrically stimulates the balance nerve to help improve stability and vision during movement. Up to 30…

This early study tests a daily injection of vosoritide (Voxzogo) in 6 children aged 5 to 10 with MPS IVA or VI, rare conditions that cause growth problems. The main goal is to see if the drug is safe and tolerable over 96 weeks. Researchers will also look at changes in height and…

This study tests a drug called selumetinib in adults with neurofibromatosis type 1 (NF1) who have nerve tumors that cannot be removed by surgery. The goal is to see if the drug can shrink these tumors or slow their growth. Participants take the drug twice daily and are monitored …

This study looks at whether the drug bevacizumab can help people with a rare condition called hereditary hemorrhagic telangiectasia (HHT) who have severe liver problems leading to high heart output and possible heart failure. Researchers will check heart function before and after…

This expanded access program gave a single patient with Leber Hereditary Optic Neuropathy (a genetic cause of vision loss) an experimental gene therapy called GS010. The treatment was injected into both eyes to test safety. Only one person was involved, so the results are very li…

This study looks at two kinds of plastic used in total knee replacement surgery: one with vitamin E and one without. The goal is to see which one lasts longer, causes less wear, and helps patients move better. About 605 adults with knee arthritis or similar problems took part, an…

This study tests whether adding the drug abatacept to standard care can prevent graft-versus-host disease (GVHD) in children receiving stem cell transplants from unrelated donors. GVHD occurs when donor cells attack the patient's body, causing serious illness. The trial will enro…

This study tests whether a device called Sonablate can safely use high-intensity focused ultrasound (HIFU) to treat vein problems like varicose veins, leg ulcers, and certain birth defects. About 30 adults with these conditions will receive the treatment, which does not involve c…

This study tests a stem cell transplant using a milder chemotherapy-like regimen to treat children and young adults (up to age 28) with various immune system disorders. The goal is to help the donor stem cells settle in the body with fewer side effects. The study involves 20 part…

This phase 3 trial tests a gene therapy called NR082 for Leber's hereditary optic neuropathy (LHON), a genetic condition that causes rapid vision loss. About 95 people aged 12 to 75 with a specific ND4 mutation will receive a single injection of the therapy or a sham procedure. T…

This phase 2 trial tests setmelanotide (Imcivree), a daily injection, in 18 people aged 6 to 65 with Prader-Willi syndrome who have obesity. The study will check if the drug is safe and helps reduce body weight and hunger over 52 weeks.

This early-stage trial tests a gene therapy called AAV9.hMCOLN1co in one child with Mucolipidosis Type IV (MLIV), a rare genetic disorder. The therapy is given as a single injection into the spinal fluid. The main goal is to check safety, but researchers will also look for any si…

This study tests a new drug called progerinin, given together with the standard medicine lonafarnib, in 10 children with Hutchinson-Gilford progeria syndrome (a rare disease that causes rapid aging). The goal is to find the best dose and check if the combination is safe and toler…

This study tests two minimally invasive fetal surgery techniques for repairing neural tube defects (spina bifida) in the womb. One method uses a Durepair patch to reinforce the repair, while the other does not. Researchers aim to see if the patch leads to a thicker repair and few…

This trial is testing whether adding hydroxychloroquine to two targeted cancer drugs (dabrafenib and trametinib) can help children and young adults with certain brain tumors that have come back or not responded to treatment. The study includes patients with specific genetic chang…

This study tests two natural substances, deoxythymidine and deoxycytidine, in people with TK2 deficiency, a rare genetic condition that causes muscle weakness and breathing problems. The goal is to see if these nucleotide precursors can help cells make more mitochondrial DNA and …

This early study tests a custom-made digital dental device called the Digital Bonded Reverse Twin Block in 21 children aged 8-11 with a mild underbite. The device is designed to gently shift the jaw and teeth into better alignment. Researchers will measure changes in jaw position…

This study tests whether nicotinamide riboside, a form of vitamin B3, can improve walking distance and muscle function in adults with mitochondrial myopathy, a rare muscle disorder. Thirty-four participants receive either the supplement or a placebo for several months. The main g…

This study tests a new medicine called PYC-001, given as an injection into the eye, for people with a genetic condition that damages the optic nerve (OPA1 optic atrophy). The main goal is to check if the treatment is safe and tolerable. About 18 adults will receive a single dose,…

This study is an extension of a previous trial testing JR-141, a drug given weekly by IV, for people with Hunter syndrome (a rare genetic disorder). It aims to see if the drug remains safe and effective over a longer period. About 80 participants who completed the earlier study w…

This study tests a stem cell transplant method for people with inherited metabolic disorders and severe osteopetrosis. The goal is to get the donor cells to take hold while keeping side effects low. Participants receive chemotherapy drugs before the transplant to prepare their bo…

This phase 2 study tests the drug olaparib in 114 people with metastatic breast cancer whose tumors have mutations in certain DNA repair genes (like BRCA1, BRCA2, ATM, PALB2, and others). Olaparib is a PARP inhibitor that may kill cancer cells by blocking their ability to fix dam…

This phase 2 trial tests a gene therapy called RP-L102 for children with Fanconi anemia subtype A, a rare genetic disorder that leads to bone marrow failure. Doctors take the child's own blood stem cells, fix the faulty gene in a lab, and infuse the corrected cells back. The goal…

This Phase 3 trial tests a new gene therapy called OTL-203 against the standard stem cell transplant for children with Hurler syndrome, a rare genetic disorder. The therapy uses the child's own blood stem cells, modified to produce the missing enzyme, aiming to improve survival a…

This study planned to test a combination of immunosuppressive drugs (methotrexate, rituximab, bortezomib, IVIg, and folic acid) in people with hypophosphatasia whose bodies had stopped responding to asfotase alfa due to antibodies. The goal was to see if suppressing the immune sy…

This study tests a new approach for people aged 5 to 45 with primary immune deficiencies and end-stage lung disease. Participants receive a double lung transplant followed by a stem cell transplant from the same donor. The goal is to see if this combined procedure is safe and can…

This study aimed to see if giving a combination of immune-suppressing drugs (rituximab, methotrexate, and IVIG) alongside the standard enzyme therapy ELAPRASE could prevent patients with Hunter syndrome from developing harmful antibodies. It was designed for boys who had never re…

This study tests a one-time gene therapy for children with Hurler syndrome, a severe genetic disorder. Doctors take the child's own blood stem cells, add a working copy of the missing gene, and put them back. The goal is to help the body produce the enzyme it lacks, potentially s…

This phase 2 trial tests whether adding a new antibody called HLX22 to standard treatment (trastuzumab plus chemotherapy) can shrink tumors and improve survival in people with HER2-positive pancreatic cancer that has spread. The study enrolls 45 adults who have not had prior trea…

This study tests a drug called DNL126 in 20 children with Sanfilippo syndrome type A, a rare genetic disorder that causes brain damage. The drug is given through a vein and aims to reduce harmful substances in the brain and body. The trial lasts about 6 months, with options to co…

This study tests the long-term safety of a nasal spray called carbetocin for people with Prader-Willi syndrome who experience severe, constant hunger (hyperphagia). About 160 participants who completed a previous study will receive the spray three times daily. The goal is to see …

This study tests a new growth hormone medicine called somapacitan, given once a week, in 47 children who are very short due to being born small for gestational age, or having Turner syndrome, Noonan syndrome, or idiopathic short stature. The main goal is to see if it is safe and …

This study is a follow-up for people with Hunter syndrome and cognitive problems who already took part in earlier studies. It aims to check the long-term safety of the drug idursulfase-IT given with Elaprase. About 6 children and adults will continue their same treatment to monit…

This Phase 3 study tests whether a gel containing patidegib can lower the number of new basal cell carcinomas (a type of skin cancer) on the face of adults with Gorlin syndrome. Participants apply the gel or a placebo to their face twice daily for a year. The study will compare h…

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed specifically for one person with Bainbridge-Ropers syndrome, a rare genetic condition that causes developmental delays. The drug aims to correct the effects of a specific ASXL3 gene mutation. T…

This study tests two drugs, nivolumab and cabozantinib, together in 60 people with advanced or metastatic non-clear cell kidney cancer. The goal is to see how well the combination shrinks tumors. Participants take cabozantinib daily and receive nivolumab infusions every two weeks…

This study follows 62 adults with hereditary hemorrhagic telangiectasia (HHT) who previously took pomalidomide in a clinical trial. Researchers want to see if the drug safely reduces nosebleed severity and the need for iron or blood transfusions over time. Participants take pomal…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study was designed to see if a special MRI technique (BOLD) could measure how well fetal lungs work in babies with diaphragmatic hernia or abdominal wall defects. Researchers planned to scan the lungs while the mother breathed normal air and then oxygen, looking for changes …

This study tests whether special lights and cameras can help find early signs of mouth cancer in people at high risk. About 338 participants with precancerous spots or conditions like Fanconi anemia will have their mouths examined with fluorescence imaging, which makes abnormal c…

This study was designed to compare the standard Pap smear with a new blood test that looks for three proteins linked to cervical cell changes. It planned to include adults aged 18-85 in good health. However, the study was withdrawn before enrolling any participants, so no results…

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study tests whether special slip-resistant shoes can help dairy workers avoid slipping on wet, slippery floors. About 22 full-time employees at a Danish dairy will wear different shoes and rate how slippery they feel each day. The goal is to find footwear that reduces fall r…

This study tests a special tooth sealant that works even on wet teeth. Researchers will apply the sealant to 500 molars in 250 children aged 7-11, comparing how well it holds up when the tooth is dried for 3 seconds versus 15 seconds. The goal is to see if the sealant prevents ca…

This study looks at the long-term safety and effectiveness of odevixibat in 70 people with Alagille syndrome, a rare genetic condition that affects the liver and other organs. The drug aims to reduce severe itching and improve bile flow. Participants who completed a prior 24-week…

This study tests a personalized workplace intervention for 124 Dutch workers with Parkinson's disease, cerebellar ataxia, hereditary spastic paraparesis, or slowly progressive neuromuscular/mitochondrial disorders. A trained facilitator helps employees and their managers identify…

This study planned to test whether a nerve block in the cheek area could reduce the need for morphine after cleft palate repair in children aged 5 months to 12 years. The experimental group would have received the nerve block, while the control group would not. However, the study…

This study tests whether monthly alexandrite laser treatments can safely shrink or improve the look of skin tumors in adults with neurofibromatosis type 1 (NF1). Ten participants will receive up to six monthly laser sessions, with some areas treated with cooling and others withou…

This study tests whether taking a special olive oil (high in a compound called oleocanthal) along with curcumin (the active part of turmeric) is safe and might help shrink skin tumors in adults with neurofibromatosis type 1 (NF1). About 23 participants take the supplements twice …

This study looks at whether special high-dissolving foods can improve feeding quality of life for children aged 6 months to 18 years after craniofacial surgery. Half of the 160 participants will receive these foods after surgery, while the other half will follow standard care. Re…

This early-stage trial tests whether monthly injections of Kybella (a drug that dissolves fat) can safely shrink skin tumors in people with Neurofibromatosis Type 1. Up to 15 adults will receive up to 6 monthly treatments, and researchers will compare treated and untreated tumors…

This phase 3 study tests a device that gently stimulates the vagus nerve through the skin (tVNS) to see if it can safely reduce temper outbursts in people with Prader-Willi syndrome. About 102 participants aged 10 to 40 will use either continuous or intermittent stimulation. The …

This study was designed to see if giving nitrous oxide (laughing gas) helps pregnant women feel less pain when a balloon is placed to start labor. It planned to compare nitrous oxide with plain oxygen. However, the study was withdrawn before any participants were enrolled, so no …

This study is testing whether a 12-week physiotherapy and exercise program can improve physical fitness and quality of life in adults with Fabry disease. Fifteen participants will do regular exercise sessions using body weight, resistance bands, and increased daily activity. The …

This expanded access program gives seriously ill adults with advanced pancreatic cancer and cachexia (severe weight loss and muscle wasting) access to the experimental drug mifomelatide. Patients receive a daily injection for up to 13 weeks. The goal is to provide a potential tre…

This study tests whether adalimumab, a drug used for arthritis, can reduce pain and improve joint movement in people with MPS I, II, or VI. It includes children and adults aged 5 and older who have significant pain and limited joint motion. Participants receive either adalimumab …

This study tests whether venglustat can reduce nerve pain in the arms and legs, and belly pain, in people with Fabry disease. Participants are 16 or older and have not had Fabry treatment for at least 6 months. The trial lasts 12 months, with visits every 3 months, and compares v…

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study tests whether a nerve block placed in the face can reduce pain and the need for strong opioid drugs after cleft palate surgery in children. The goal is to help kids start eating and drinking sooner and go home faster. The study involves 40 children having cleft palate …

This study looks at two surgical treatments for moderate to severe gynecomastia (enlarged male breasts). One group gets standard laparoscopic surgery to remove breast tissue, while the other gets that plus a lift of the nipple-areola complex. Researchers will compare recovery, br…

This 12-week study tests whether a daily eggshell membrane supplement (Ovolux) can improve skin firmness and moisture in 100 healthy adults aged 35-65 with sagging or dry skin. Participants will take capsules and have their skin and hair measured with special devices. The goal is…

This Phase 3 trial tests a nasal spray called carbetocin to reduce the intense, constant hunger (hyperphagia) in people with Prader-Willi syndrome. The study involves 170 participants aged 5 to 30 and lasts 12 weeks. Caregivers will rate changes in hunger-related behaviors using …

This study tests whether offering online educational videos and mailed saliva genetic testing kits helps more first-degree relatives of people with BRCA mutations get tested, compared to standard care with a family letter. About 820 participants will be enrolled across several me…

This study is a national registry in China that will track 500 women who experience an aortic dissection (a tear in the main artery) during pregnancy or within 12 weeks after giving birth. Researchers will collect information on treatments and outcomes for both mothers and babies…

This natural history study follows 259 children, adolescents, and adults with Neurofibromatosis Type 1 (NF1) for up to 10 years. Researchers will track tumor growth, monitor quality of life, and perform genetic testing to better understand how the disease changes over time. The g…

This study examines how often healthcare workers in a hospital's intensive care unit (ICU) experience physical, verbal, or sexual assaults from patients or their relatives. Researchers will review medical records of 865 adults who were in the ICU and had a reported incident of vi…

This study looks at people and families who have a high risk of cancer to learn what genes and environmental factors might increase that risk. Over 5,000 participants are followed over time with questionnaires, medical records, and optional genetic testing. No treatment is given,…

This study follows up to 90 children and young adults with mitochondrial liver diseases to learn how these conditions progress over time. Researchers will collect medical data and samples to better understand the diseases and find markers that predict outcomes. The goal is to imp…

This study followed children and young adults with genetic liver diseases that cause bile buildup. The goal was to track how these diseases progress over time, including the need for liver transplants or other complications. No treatments were tested; the aim was simply to learn …

This study follows 600 people with Albright hereditary osteodystrophy, a rare genetic condition affecting bones and hormones. Researchers are looking at how growth hormone treatment affects height and weight in those with a related hormone problem, and also studying thinking and …

This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's…

This study follows 78 adults in Taiwan who have Fabry disease and carry a specific genetic mutation called GLA IVS4. Researchers are looking at how the disease affects the heart and other organs over time, both in people who have never been treated and those who have received aga…

This study follows 96 people with end-stage kidney disease who need a brachiocephalic fistula for dialysis. Researchers collect data from exams, blood tests, and imaging to track changes in the vein over time. The goal is to learn what causes cephalic arch stenosis, a common narr…

This study tracks 80 patients with brain tumors (metastases or meningiomas) who receive stereotactic radiosurgery. Researchers use memory tests and quality-of-life questionnaires before treatment and every 3 months for a year to see if and how brain function changes. By comparing…

This study follows 450 infants and their families from birth to age 12 to learn how a child's biology and home environment work together to shape eating habits and growth. Researchers collect samples, measurements, and surveys at regular visits. The goal is to understand what inf…

This study aims to learn more about the genetic changes that cause Goltz syndrome, a rare condition that affects the skin, bones, eyes, and other organs. Researchers are collecting blood samples from up to 84 people with the condition and their parents to analyze their DNA. No tr…

This study is testing a new way to care for people with rare diseases. It will use advanced genetic testing and a team of specialists to help diagnose patients faster and coordinate their care better. The study involves 136 participants with certain rare diseases and aims to redu…

This study is creating a registry of people with Hereditary Hemorrhagic Telangiectasia (HHT), a rare condition that causes abnormal blood vessels and frequent nosebleeds. Researchers will collect health information from about 1,000 adults over many years to see how the disease ch…

This study looks back at medical records of 50 people with Mucolipidosis Type IV (MLIV) to learn how the disease typically progresses. Researchers want to know when children reach or lose developmental milestones, how their movement and vision change, and what lab results look li…

This national study is looking at 500 babies and fetuses with non-immune hydrops fetalis or other birth defects to find hidden genetic causes. Researchers are using a detailed genetic test called exome sequencing to look for DNA changes that might explain these conditions. The go…

This study looks for genetic causes of non-immune hydrops fetalis, a condition where fluid builds up abnormally in a fetus, leading to high risks of stillbirth or death. Researchers will use whole genome sequencing on 500 affected fetuses or newborns and their parents. The goal i…

This study follows 31 Chinese adults with a specific genetic mutation (IVS4+919G>A) that causes Fabry disease, a condition where harmful substances build up and damage organs, especially the heart. Researchers use advanced heart scans and blood tests to track how the disease prog…

This study looks at freezing ovarian tissue in girls with Turner syndrome, a condition that often causes early ovary failure and infertility. Researchers want to find out which patients are most likely to have healthy eggs in their tissue by checking their genes, hormones, and me…

This study looks at whether people with Fabry, Gaucher, or Hunter disease are more likely to continue their IV treatment when it's given at home versus at a hospital. Researchers will review existing data from 222 patients in Mexico. No new treatments are given; the goal is to un…

This study monitors the safety of selumetinib in children aged 3 to 18 with neurofibromatosis type 1 and symptomatic, inoperable plexiform neurofibromas. Researchers will track potential side effects on the heart, bones, muscles, liver, eyes, and puberty. The goal is to better un…

This study looks back at the medical records of about 4 million people who had physical or occupational therapy for muscle and joint problems. Researchers want to see if different ways of giving therapy lead to different results. No new treatments are tested—the goal is to learn …

This long-term study follows over 1,500 people of all ages with hypophosphatasia (HPP), a rare bone disease. Researchers will collect information on how the disease progresses, its impact on daily life, and the long-term safety and effectiveness of the treatment asfotase alfa. Th…

This study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …

This study follows 340 people with vascular Ehlers-Danlos syndrome (vEDS), a rare genetic condition that weakens blood vessels and organs. Researchers will track complications like artery tears, digestive issues, and pregnancy risks to better understand how the disease progresses…

This study looks at whether giving oral care with breast milk (or sterile water if breast milk is not available) can improve feeding tolerance and gut bacteria in newborns with gastroschisis, a rare abdominal wall defect. Researchers will follow 27 infants in the NICU to see if t…

Researchers at Arkansas Children's Hospital are studying how mitochondria work in children with autism spectrum disorder. They aim to identify distinct patterns of mitochondrial dysfunction that may relate to developmental delays. The study involves up to 5 visits with blood draw…

This study uses special MRI scans to measure how well muscles produce energy in people with mitochondrial disease. Researchers hope to learn more about the condition and develop a new tool to help diagnose and track it. The study involves 230 participants aged 7 to 75 with suspec…

This study looks at children having surgery to remove a common neck lump called a thyroglossal duct cyst. Some kids will have a small drain placed during surgery, and some will not. The goal is to see if using a drain reduces problems like infection, fluid buildup, or the need fo…

This study follows 300 fetuses and children with sex chromosome disorders to track their growth, organ development, and overall health. Researchers will also look at genetic and gut microbiome factors. The goal is to better understand how these conditions affect children over tim…

This study follows 80 people with Neurofibromatosis type 1 (NF1) who are at high risk for developing malignant peripheral nerve sheath tumors (MPNST). Researchers will use yearly whole-body MRI scans, blood samples, and checkups to track changes in nerve lesions over time. The go…

This study looks at fetuses with sex chromosome disorders (like extra or missing X or Y chromosomes) that were either miscarried or electively aborted. Researchers will analyze the placenta and fetal tissues to see how the chromosome changes affect gene activity and development. …

This study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…

This study follows 30 people with mucopolysaccharidoses (MPS) over three years to see how their heart and arteries change. Researchers use neck ultrasounds and blood tests to measure artery thickness, stiffness, and signs of inflammation. The goal is to better understand cardiova…

This study brings together medical teams that treat children with cleft lip and/or palate. They will collect information on speech, hearing, dental health, and quality of life from about 1,000 patients. The goal is to compare results across centers and find ways to improve care. …

This study watches 100 people with Fabry disease who are already taking enzyme replacement therapy as part of their regular care. Researchers want to see how the treatment affects their health over time by checking things like kidney function and pain levels. The study does not t…

This study uses MRI scans to understand how different neck positions affect the flow of cerebrospinal fluid (the fluid around the brain and spine) in people with Chiari malformations and similar neck abnormalities. Researchers will compare fluid flow in healthy volunteers and pat…

This study aims to find the genetic cause of PHACE syndrome, a rare condition. Researchers will analyze DNA from 50 people diagnosed with PHACE. Participants must also have an eye exam. The goal is to identify genes that may be responsible for the syndrome, which could lead to be…

This study was designed to observe how patients with hereditary tyrosinemia type 1 (HT-1) in China respond to nitisinone treatment in everyday medical practice. It planned to track serious health events like liver problems or death. However, the study was withdrawn before enrolli…

This study looks at 200 people with a narrow upper jaw who are getting a palate expander. Researchers want to see if the angle of the premolars on X-rays can predict how much the jaw will widen. The goal is to better understand the treatment process, not to test a new therapy.

This study watches how the enzyme drug laronidase moves through the bodies of 13 children with MPS IH (a rare genetic disease) before and after they get a stem cell transplant. The goal is to learn what affects drug levels, not to test a new treatment. Children aged 0-3 who are a…

This study compares how people with Ehlers-Danlos syndrome (EDS) and healthy volunteers respond to local anesthetics like lidocaine and bupivacaine. Researchers inject a small amount under the skin and measure pain sensation at different times. The goal is to find out if reported…

This study follows 500 people with neurofibromatosis type 1 (NF1) to see how their skin tumors (called cutaneous neurofibromas) grow and change over time. Researchers use 3D whole-body photography to track tumor number and size each year. The goal is to better understand these tu…

This study looks at how problems with mitochondria—the tiny power plants inside cells—might affect bone health. Researchers will compare 30 people with certain genetic changes that cause mitochondrial dysfunction to healthy volunteers. They will take blood, bone marrow, and bone …

This study is a registry that will follow up to 221 children with Noonan Syndrome who are already taking or starting Norditropin® for short stature. Researchers will collect information on growth, side effects, and quality of life over time. No new treatment is being tested—the g…

This study was designed to see if a new monitoring algorithm could detect early signs of ovarian damage in women and girls who had cancer treatment. Researchers planned to compare a group using the new algorithm with a group that received standard care. However, the study was wit…

This study follows 60 children aged 4–10 with clubfoot to see if a new scoring system (PBS-score) can predict whether their foot condition will come back and need extra treatment like casting, braces, or surgery. Researchers will track the children for five years and also ask fam…

This study tests two types of hyperextension braces (Jewett and Spinomed) on 30 healthy adults aged 18-35. Researchers measure how much each brace limits spinal movement and affects posture during daily activities like standing and squatting. The goal is to provide clear data to …

This observational study looks at muscle strength, structure, and nerve function in people with Marfan syndrome or Ehlers-Danlos syndrome. Participants undergo a non-invasive muscle ultrasound and perform voluntary contractions while their muscle activity is recorded. The goal is…

This study will follow 300 men with Klinefelter syndrome (an extra X chromosome) who are treated at a Danish hospital. Researchers will collect medical records, scans, and blood samples to map how the condition affects growth, hormones, fertility, heart health, and mental well-be…

This study aimed to see if a rapid whole genome sequencing test on amniotic fluid could give faster genetic diagnoses for fetuses with suspected genetic diseases. Researchers planned to compare results from amniotic fluid and blood samples from up to 90 families. However, the stu…

This early-phase study looks at whether a common blood pressure drug, hydrochlorothiazide, can affect chronic pain in people who already have a spinal cord stimulator implant. About 36 adults with chronic low back pain and high blood pressure will take the drug or a placebo for t…

This study aims to find blood-based biomarkers that signal the presence and size of plexiform neurofibromas in people with Neurofibromatosis type 1 (NF1). Researchers will collect blood samples and use whole-body MRI to compare biomarker levels in 200 participants with different …