Autosomal recessive disease
MONDO:0006025Autosomal recessive form of disease.
Also known as: autosomal recessive disease or disorder, autosomal recessive hereditary disease, autosomal recessive hereditary disorder, autosomal recessive inherited disease, autosomal recessive inherited disorder, disease or disorder, autosomal recessive, disease, autosomal recessive, recessive hereditary disorder (autosomal)
873 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Broader categories
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Hope for muscle strength: experimental drug tested for Long-Term use in rare muscular dystrophy
Disease control OngoingThis study tests the long-term safety and effectiveness of an experimental drug called BBP-418 (ribitol) in people with limb-girdle muscular dystrophy type 2I/R9, a rare genetic muscle-weakening disease. Participants who completed a previous study will take BBP-418 orally twice d…
Phase: PHASE3 • Sponsor: ML Bio Solutions, Inc. • Aim: Disease control
Last updated Jul 04, 2026 00:00 UTC
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CRISPR stem cell therapy shows promise for kids with sickle cell
Disease control OngoingThis phase 3 trial tests a single dose of CTX001, a CRISPR-edited stem cell therapy, in 13 children with severe sickle cell disease who have not responded to standard treatments. The goal is to see if it can prevent severe pain crises for at least a year. Participants receive the…
Phase: PHASE3 • Sponsor: Vertex Pharmaceuticals Incorporated • Aim: Disease control
Last updated Jul 03, 2026 00:00 UTC
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Trikafta's long-term safety tested in cystic fibrosis patients with rare mutations
Disease control OngoingThis study looks at the long-term safety and effectiveness of the drug combination Trikafta (elexacaftor/tezacaftor/ivacaftor) in people with cystic fibrosis who have certain non-F508del gene mutations. About 297 participants who completed a prior study will continue taking the m…
Phase: PHASE3 • Sponsor: Vertex Pharmaceuticals Incorporated • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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New cystinosis drug shows promise in early trial
Disease control OngoingThis study tests a new oral solution called NPI-001 in people with cystinosis, a rare disease that causes cystine buildup in cells. Researchers want to see if NPI-001 is safe and works better than the current drug cysteamine. About 12 participants aged 10 and older will stop thei…
Phase: PHASE1, PHASE2 • Sponsor: Nacuity Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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Could a common drug ease sickle cell pain for african children?
Disease control OngoingThis study tests whether hydroxyurea, a drug already used for sickle cell disease in other parts of the world, is safe and effective for children with sickle cell anemia in Africa. Children aged 1 to 10 years receive daily doses of hydroxyurea, with careful monitoring for side ef…
Phase: PHASE1, PHASE2 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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New pill aims to tame rare immune diseases
Disease control OngoingThis early-stage trial tests an experimental drug called BI 3000202 in 16 adults with rare type 1 interferonopathies, such as Aicardi-Goutières syndrome. Participants take a low dose for 4 weeks, then a higher dose for 36 weeks. The main goal is to see if the drug is safe and how…
Phase: PHASE1 • Sponsor: Boehringer Ingelheim • Aim: Disease control
Last updated Jun 27, 2026 14:03 UTC
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New PKU drug could loosen strict diet restrictions
Disease control OngoingThis phase 3 study tests a drug called PTC923 (sepiapterin) in 200 people with phenylketonuria (PKU), a genetic condition that requires a strict low-protein diet. The main goal is to see if the drug is safe over the long term and whether it allows people to eat more protein witho…
Phase: PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 14:03 UTC
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New drug aims to cut sickle cell pain crises in half
Disease control OngoingThis study tests a drug called mitapivat in 286 people with sickle cell disease, ages 16 and older. The goal is to see if mitapivat can raise hemoglobin levels and reduce painful sickle cell crises compared to a placebo. The trial has two phases: first to find the best dose, then…
Phase: PHASE2, PHASE3 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 14:02 UTC
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New drug aims to outsmart resistant colorectal cancer
Disease control OngoingThis trial tests a new drug called Cadonilimab in 28 people with advanced colorectal cancer that has not responded to standard immunotherapy. The drug is a bispecific antibody that targets two immune checkpoints (PD-1 and CTLA-4) to potentially reactivate the immune system agains…
Phase: PHASE1, PHASE2 • Sponsor: Sun Yat-sen University • Aim: Disease control
Last updated Jun 27, 2026 14:02 UTC
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New transplant method aims to reduce complications in bone marrow failure patients
Disease control OngoingThis 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…
Phase: NA • Sponsor: Children's Hospital of Philadelphia • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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Antioxidant pill shows promise in slowing blindness
Disease control OngoingThis phase 3 trial tests whether an oral antioxidant called N-acetylcysteine (NAC) can slow the loss of vision in people with retinitis pigmentosa, an inherited eye disease that causes gradual blindness. About 485 adults aged 18 to 65 are taking NAC or a placebo for several years…
Phase: PHASE3 • Sponsor: Johns Hopkins University • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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Childhood cancer immunotherapy trial pulled before it started
Disease control TerminatedThis study was designed to test two immunotherapy drugs, nivolumab and ipilimumab, in children and young adults with cancers that returned or didn't respond to treatment and had many genetic mutations. The goal was to see if the drug combination was safe and could shrink tumors. …
Phase: PHASE1 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jun 27, 2026 13:08 UTC
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Birth control implant may tame sickle cell pain crises
Disease control OngoingThis study looks at whether a progestin contraceptive implant (Nexplanon) can reduce painful sickle cell crises and improve quality of life in women aged 18-45 with sickle cell disease. Twenty-two participants will use the implant for a period and report their pain episodes. The …
Phase: PHASE4 • Sponsor: University of Pennsylvania • Aim: Disease control
Last updated Jun 27, 2026 13:07 UTC
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Gene therapy offers hope for sickle cell patients by boosting healthy hemoglobin
Disease control TEMPORARILY_NOT_AVAILABLEThis study offers expanded access to a gene therapy for people with severe sickle cell disease. The treatment uses a modified virus to deliver genetic material that increases fetal hemoglobin, a healthy type that prevents sickling. Patients receive their own blood stem cells back…
Sponsor: David Williams • Aim: Disease control
Last updated Jun 27, 2026 13:05 UTC
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New combo therapy targets hard-to-treat liver metastases in colorectal cancer
Disease control OngoingThis trial tests a personalized treatment plan for people with advanced colorectal cancer that has spread to the liver and stopped responding to standard treatments. The approach combines a liver-directed chemotherapy (HAIC), a targeted therapy (fruquintinib or cetuximab), and an…
Phase: NA • Sponsor: Peking University • Aim: Disease control
Last updated Jun 27, 2026 13:05 UTC
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New drug aims to cut sickle cell pain crises in half
Disease control OngoingThis phase 3 study tests two doses of crizanlizumab against a placebo in 255 adolescents and adults with sickle cell disease who have frequent pain crises. The goal is to see if the drug can reduce the number of severe pain episodes that require a hospital or clinic visit. Partic…
Phase: PHASE3 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 13:04 UTC
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Trikafta's long-term safety tested in toddlers with cystic fibrosis
Disease control OngoingThis phase 3 study is testing the long-term safety and effectiveness of the drug combination elexacaftor/tezacaftor/ivacaftor (known as Trikafta) in 50 people with cystic fibrosis who are at least 12 months old. Participants previously completed a related study and will continue …
Phase: PHASE3 • Sponsor: Vertex Pharmaceuticals Incorporated • Aim: Disease control
Last updated Jun 27, 2026 13:03 UTC
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Immune cell therapy shows promise for tough cancers
Disease control OngoingThis phase 2 study tests a personalized immune cell therapy called tumor-infiltrating lymphocytes (TIL) in 20 people with advanced solid cancers (like stomach, colon, or pancreatic cancer) that have not responded to standard treatments. Patients first receive chemotherapy to prep…
Phase: PHASE2 • Sponsor: Udai Kammula • Aim: Disease control
Last updated Jun 27, 2026 13:01 UTC
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Blood swap breakthrough: can exchange transfusions save sickle cell patients?
Disease control OngoingThis Phase 3 trial tests whether automated red cell exchange (a procedure that replaces a patient's sickled red blood cells with healthy donor cells) plus standard care can reduce hospital visits and deaths in adults with sickle cell disease at high risk. About 173 participants w…
Phase: PHASE3 • Sponsor: University of Pittsburgh • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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New pill tebapivat aims to ease anemia in sickle cell disease
Disease control OngoingThis Phase 2 trial tests whether tebapivat, an oral tablet, can improve anemia in people with sickle cell disease compared to a placebo. About 59 participants will take the drug or a dummy pill for several weeks. The main goal is to see if hemoglobin levels rise, which could mean…
Phase: PHASE2 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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Promising drug for rare nerve disease trial pulled before start
Disease control TerminatedThis study was designed to test whether the drug govorestat could improve symptoms of Charcot-Marie-Tooth disease caused by sorbitol dehydrogenase deficiency (CMT-SORD), a rare nerve condition. It planned to enroll people aged 16 to 65 and compare govorestat to a placebo over 36 …
Phase: PHASE3 • Sponsor: Applied Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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New combo aims to unleash immune system against tough ovarian cancer
Disease control OngoingThis study tests whether a two-drug combination can help the immune system attack ovarian cancer that has returned after standard treatments. The drugs are E7777, which removes certain immune cells that block the body's defenses, and pembrolizumab, which reactivates cancer-fighti…
Phase: PHASE1, PHASE2 • Sponsor: Alexander B Olawaiye, MD • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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New drug combo aims to make bone marrow transplants safer for kids
Disease control OngoingThis 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…
Phase: EARLY_PHASE1 • Sponsor: Children's Hospital of Philadelphia • Aim: Disease control
Last updated Jun 27, 2026 12:39 UTC
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New triple therapy for kids with cystic fibrosis shows promise in phase 3 trial
Disease control OngoingThis study tests a triple-combination drug (VX-121/tezacaftor/deutivacaftor) in children aged 1 to 11 with cystic fibrosis who have a specific genetic mutation. The goal is to check how the medicine works in the body, its safety, and how well children tolerate it. Around 210 chil…
Phase: PHASE3 • Sponsor: Vertex Pharmaceuticals Incorporated • Aim: Disease control
Last updated Jun 27, 2026 12:38 UTC
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New CF drug combo VX-828 enters early human testing
Disease control OngoingThis early-stage study tests the safety and how the body handles a new drug called VX-828, alone or combined with other CF medicines. It involves about 165 healthy adults and people with cystic fibrosis. The goal is to see if VX-828 is safe enough for further testing.
Phase: PHASE1 • Sponsor: Vertex Pharmaceuticals Incorporated • Aim: Disease control
Last updated Jun 27, 2026 12:37 UTC
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New mRNA inhalation therapy offers hope for Hard-to-Treat cystic fibrosis
Disease control OngoingThis early-stage trial tests an inhaled mRNA therapy called VX-522, combined with an existing drug (ivacaftor), in 26 adults with cystic fibrosis who have genetic mutations that do not respond to current modulator treatments. The main goals are to check safety and tolerability, a…
Phase: PHASE1, PHASE2 • Sponsor: Vertex Pharmaceuticals Incorporated • Aim: Disease control
Last updated Jun 27, 2026 12:37 UTC
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One-Patient trial hopes to slow rare eye and nerve disease
Disease control ENROLLING_BY_INVITATIONThis early-phase trial tests an experimental drug called nL-FLVC-001 in a single person with posterior column ataxia with retinitis pigmentosa (PCARP), a rare genetic condition that causes vision loss and coordination problems. The drug is an antisense oligonucleotide injected in…
Phase: EARLY_PHASE1 • Sponsor: University of Colorado, Denver • Aim: Disease control
Last updated Jun 27, 2026 12:36 UTC
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Could an immune booster help kids fight deadly brain cancer?
Disease control OngoingThis early-stage trial is testing the safety and potential benefit of pembrolizumab, an immunotherapy drug, in 71 children whose brain tumors (like DIPG, high-grade gliomas, or medulloblastoma) have come back or not responded to standard treatments. The drug works by helping the …
Phase: PHASE1 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jun 27, 2026 12:34 UTC
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Children's trial launches for Friedreich's ataxia drug
Disease control OngoingThis study tests omaveloxolone, a drug already approved for adults with Friedreich's ataxia, in children aged 2 to 15. Researchers want to see how the drug moves through children's bodies and whether it is safe. The study involves two parts: a single dose followed by daily dosing…
Phase: PHASE1 • Sponsor: Biogen • Aim: Disease control
Last updated Jun 27, 2026 12:31 UTC
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Gene therapy could end pain crises for sickle cell patients
Disease control OngoingThis study tests a gene therapy that modifies a patient's own blood stem cells to produce more fetal hemoglobin, a healthy type that prevents sickling. The goal is to reduce or eliminate severe pain crises in people with sickle cell disease. The treatment involves chemotherapy to…
Phase: PHASE2 • Sponsor: David Williams • Aim: Disease control
Last updated Jun 27, 2026 12:31 UTC
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New combo pill aims to boost cystic fibrosis treatment
Disease control OngoingThis study tests whether adding a new drug called SION-719 to the standard CF medication Trikafta is safe and helps people with cystic fibrosis who have two copies of the F508del mutation. Sixteen participants will receive either SION-719 or a placebo alongside their usual Trikaf…
Phase: PHASE2 • Sponsor: Sionna Therapeutics Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
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Sickle cell drug mitapivat faces Long-Term safety check in small study
Disease control OngoingThis study looks at the long-term safety and tolerability of the drug mitapivat in adults with stable sickle cell disease. Participants, who previously benefited from mitapivat in an earlier study, take the drug twice daily for up to 48 weeks, with an option to continue for anoth…
Phase: PHASE1, PHASE2 • Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
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New triple therapy shows promise for cystic fibrosis in Long-Term trial
Disease control OngoingThis study tests a triple-combination drug (VX-121/TEZ/D-IVA) for people with cystic fibrosis, a genetic condition that affects the lungs and digestion. The goal is to see if the treatment is safe and works well over a long period. About 822 participants who completed earlier stu…
Phase: PHASE3 • Sponsor: Vertex Pharmaceuticals Incorporated • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
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Gentler transplant shows promise for kids with blood diseases
Disease control OngoingThis study tests a milder chemotherapy and immune-suppressing regimen before a stem cell transplant for children and young adults with non-malignant blood disorders like sickle cell disease or immune deficiencies. The goal is to safely achieve donor cell engraftment with fewer si…
Phase: PHASE2 • Sponsor: Children's Hospital of Philadelphia • Aim: Disease control
Last updated Jun 27, 2026 12:28 UTC
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New drug combo aims to make stem cell transplants safer for sickle cell patients
Disease control OngoingThis early-phase trial tests a new combination of drugs (briquilimab, abatacept, and alemtuzumab) plus low-dose radiation to prepare people with sickle cell disease for a stem cell transplant from a half-matched family donor. The goal is to reduce serious side effects like graft-…
Phase: PHASE1, PHASE2 • Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Disease control
Last updated Jun 27, 2026 12:24 UTC
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New triple therapy aims to control cystic fibrosis Long-Term
Disease control ENROLLING_BY_INVITATIONThis phase 3 study tests the long-term safety and effectiveness of a triple combination drug (vanzacaftor/tezacaftor/deutivacaftor) in 174 people with cystic fibrosis aged 1 and older. Participants who completed a prior study will receive the drug to see if it helps control sympt…
Phase: PHASE3 • Sponsor: Vertex Pharmaceuticals Incorporated • Aim: Disease control
Last updated Jun 27, 2026 12:24 UTC
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Could a cheap drug transform sickle cell care for african kids?
Disease control OngoingThis trial tests the drug hydroxyurea in 811 children with sickle cell anemia across Africa. The goal is to see if it is safe and effective, and to make it more available. Children take daily doses adjusted for their weight, and doctors monitor blood counts and fetal hemoglobin l…
Phase: PHASE2 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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New stem cell transplant could help sickle cell patients without a perfect donor match
Disease control OngoingThis study tests a stem cell transplant using cells from a half-matched family donor, combined with low-dose radiation and drugs to prevent rejection, for adults with severe sickle cell disease or beta-thalassemia. The goal is to see if this gentler approach can replace the disea…
Phase: PHASE1, PHASE2 • Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Half-Matched stem cell transplant shows promise for sickle cell disease
Disease control OngoingThis study tests a stem cell transplant from a half-matched relative (haploidentical donor) for adults with severe sickle cell disease. The goal is to see if a gentler conditioning regimen can reduce complications like graft rejection and graft-versus-host disease. Participants r…
Phase: PHASE1, PHASE2 • Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Disease control
Last updated Jun 27, 2026 12:23 UTC
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Sickle cell drug pociredir tested for Long-Term safety in 50 patients
Disease control ENROLLING_BY_INVITATIONThis study looks at the long-term safety of the drug pociredir in 50 adults with sickle cell disease who have already taken it and seen benefits in an earlier study. Participants will take pociredir once daily for up to 48 months. The main goal is to track side effects and other …
Phase: PHASE2 • Sponsor: Fulcrum Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:07 UTC
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New care model aims to save mothers and babies with sickle cell disease
Disease control OngoingThis study tests a special care program for pregnant women with sickle cell disease in Ghana. A team of obstetric and sickle cell experts works together to prevent complications and reduce deaths. Researchers will track 500 women to see if this low-cost approach improves survival…
Sponsor: Vanderbilt University Medical Center • Aim: Disease control
Last updated Jun 27, 2026 12:06 UTC
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Could a tailored drug dose cut transfusions for kids with sickle cell?
Disease control OngoingThis study tests whether giving children with sickle cell anemia a personalized dose of hydroxyurea can lower their need for blood transfusions. About 100 children in Uganda will receive a dose based on their own drug levels. Researchers will compare transfusion rates before and …
Phase: EARLY_PHASE1 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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New hope for ALS patients: experimental drug CNM-Au8 now available through expanded access
Disease control TEMPORARILY_NOT_AVAILABLEThis program provides early access to an experimental drug called CNM-Au8 for people with amyotrophic lateral sclerosis (ALS), a progressive nerve disease. Participants must be 18 or older and have a confirmed ALS diagnosis. The goal is to offer treatment to those who cannot join…
Sponsor: Clene Nanomedicine • Aim: Disease control
Last updated Jun 27, 2026 12:04 UTC
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New pill could slash sickle cell pain crises
Disease control OngoingThis large Phase 3 trial is testing an oral drug called etavopivat in 450 people with sickle cell disease. The goal is to see if taking a pill once daily can raise hemoglobin levels and reduce the number of painful vaso-occlusive crises compared to a placebo. Participants must ha…
Phase: PHASE3 • Sponsor: Forma Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:04 UTC
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Gene therapy for deafness: researchers track long-term safety and hearing gains
Disease control ENROLLING_BY_INVITATIONThis study follows 30 people who previously received a gene therapy (AAVAnc80-hOTOF) for hearing loss caused by otoferlin gene mutations. Researchers will monitor safety over the long term, checking for late side effects, and measure hearing improvements using brain response test…
Sponsor: Akouos, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:04 UTC
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Can a One-Day allergy fix keep PKU patients on their meds?
Disease control OngoingThis study tests a rapid drug desensitization (RDD) protocol for adults with phenylketonuria (PKU) who have had allergic reactions to Palynziq. Over one day, patients receive gradually increasing doses to retrain their immune system. The goal is to see if they can safely restart …
Phase: PHASE4 • Sponsor: BioMarin Pharmaceutical • Aim: Disease control
Last updated Jun 27, 2026 12:04 UTC
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New drug combo aims to slow Progeria's effects
Disease control ENROLLING_BY_INVITATIONThis 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,…
Phase: PHASE1, PHASE2 • Sponsor: Boston Children's Hospital • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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Sickle cell kidney trial pulled before it began
Disease control TerminatedThis study aimed to see if the drug mitapivat could help people with sickle cell disease who also have kidney damage. It planned to measure changes in a key kidney marker over six months. However, the trial was withdrawn before enrolling any participants, so no results are availa…
Phase: PHASE2 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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Sickle cell gene therapy trial pulled before it even started
Disease control TerminatedThis study was designed to test a single dose of exa-cel, a gene-edited cell therapy, in people with severe sickle cell disease who have the HbSC genotype. Participants would have received their own modified stem cells after chemotherapy. However, the trial was withdrawn before a…
Phase: PHASE3 • Sponsor: Vertex Pharmaceuticals Incorporated • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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New drug combo targets Hard-to-Treat cancers in early trial
Disease control OngoingThis early-phase trial tests a new drug called HRO761, alone or combined with pembrolizumab or irinotecan, in people with advanced solid tumors that have high microsatellite instability (MSI-high) or mismatch repair deficiency (dMMR). The main goals are to check safety and find t…
Phase: PHASE1 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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CRISPR gene therapy: a Long-Term safety check for blood disease patients
Disease control ENROLLING_BY_INVITATIONThis study follows 160 children and adults with beta-thalassemia or sickle cell disease who received a one-time treatment of their own CRISPR-edited stem cells (CTX001). The goal is to monitor long-term safety, including any new cancers or blood disorders, and to see how well the…
Phase: PHASE3 • Sponsor: Vertex Pharmaceuticals Incorporated • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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New blood treatment could block zika in transfusions
Disease control OngoingThis study tests a special treatment for red blood cells that aims to kill the Zika virus, making transfusions safer. About 692 people who need blood transfusions will receive either treated or standard blood. The goal is to see if the treated blood works just as well and is safe…
Phase: PHASE3 • Sponsor: Cerus Corporation • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
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New lotion could ease rare skin disorder
Disease control OngoingThis study tests a lotion called QRX003 in 30 people with Netherton Syndrome, a rare genetic skin condition. The lotion contains a drug that blocks certain enzymes thought to cause skin problems. Researchers are checking if it reduces redness, scaling, and itching compared to a p…
Phase: PHASE2, PHASE3 • Sponsor: Quoin Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 11:01 UTC
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New drug duo takes on Treatment-Resistant cancers
Disease control OngoingThis phase 2 trial tests whether combining two immunotherapy drugs, nivolumab and relatlimab, can shrink or control advanced solid tumors with a specific genetic feature (MSI-H) that have stopped responding to prior immunotherapy. About 38 adults with these hard-to-treat cancers …
Phase: PHASE2 • Sponsor: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins • Aim: Disease control
Last updated Jun 27, 2026 11:01 UTC
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New antibody could boost stem cell transplant success for blood disorders
Disease control OngoingThis study tests whether adding an antibody called briquilimab (JSP191) to a standard stem cell transplant can help more donor cells take root in people with sickle cell disease or beta-thalassemia. About 40 patients aged 13 and older will receive the antibody along with low-dose…
Phase: PHASE1, PHASE2 • Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Disease control
Last updated Jun 27, 2026 11:01 UTC
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New pill aims to keep chemo on track for GI cancer patients
Disease control OngoingThis study tests whether avatrombopag, a pill that boosts platelet production, can help people with gastrointestinal cancer who develop low platelets from chemotherapy. About 60 participants will receive either avatrombopag or a placebo. The goal is to see if the drug can raise p…
Phase: PHASE2 • Sponsor: Hanny Al-Samkari, MD • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
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Balance-Restoring implant trial offers hope for chronic dizziness sufferers
Disease control OngoingThis 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…
Phase: NA • Sponsor: Johns Hopkins University • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
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One-Time gene injection aims to restore sight in rare eye disease
Disease control OngoingThis phase 3 trial tests a gene therapy called LX101 in 30 people with inherited retinal dystrophy caused by RPE65 mutations. Participants receive a single injection of LX101 into the eye, while a control group gets no treatment. The study measures changes in functional vision an…
Phase: PHASE3 • Sponsor: Innostellar Biotherapeutics Co.,Ltd • Aim: Disease control
Last updated Jun 27, 2026 09:10 UTC
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New transplant approach offers hope for sickle cell patients without a perfect donor match
Disease control OngoingThis early-phase study tests a new type of stem cell transplant for people with severe sickle cell disease who don't have a fully matched sibling donor. It uses a half-matched family donor and a milder chemotherapy regimen to prepare the body, along with removing certain immune c…
Phase: PHASE1 • Sponsor: City of Hope Medical Center • Aim: Disease control
Last updated Jun 27, 2026 09:10 UTC
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Experimental gene therapy aims to restore sight in rare eye disease
Disease control OngoingThis early study tests a gene therapy called LX101 in 9 people with a rare inherited eye disease caused by RPE65 gene mutations. The therapy delivers a working copy of the gene into the retina via a single injection. The main goals are to check safety and see if it can improve vi…
Phase: PHASE1 • Sponsor: Innostellar Biotherapeutics Co.,Ltd • Aim: Disease control
Last updated Jun 27, 2026 09:10 UTC
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One-Time gene therapy aims to halt rare muscle disease
Disease control OngoingThis study tests a single dose of SRP-9003 gene therapy in 17 people with limb girdle muscular dystrophy 2E/R4, a genetic muscle-weakening disease. The goal is to restore a missing protein in muscle cells and improve muscle function. Both walkers and non-walkers can join, and the…
Phase: PHASE3 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:10 UTC
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Could keytruda tame tough prostate cancers?
Disease control OngoingThis phase 2 study tests pembrolizumab (Keytruda) in 40 men with metastatic castration-resistant prostate cancer that has specific genetic flaws (mismatch repair deficiency or CDK12 inactivation). The goal is to see if the drug can shrink tumors or slow the cancer. Researchers wi…
Phase: PHASE2 • Sponsor: VA Office of Research and Development • Aim: Disease control
Last updated Jun 27, 2026 09:08 UTC
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New drug combo may shield kids from transplant complications
Disease control OngoingThis 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…
Phase: PHASE2 • Sponsor: Emory University • Aim: Disease control
Last updated Jun 27, 2026 09:08 UTC
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New gene therapy aims to fix immune system in rare disease
Disease control ENROLLING_BY_INVITATIONThis study tests a new gene therapy for people with chronic granulomatous disease (CGD), a genetic disorder that weakens the immune system and makes them prone to serious infections. The treatment takes the patient's own blood stem cells, adds a missing gene in the lab, and puts …
Phase: PHASE1, PHASE2 • Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Disease control
Last updated Jun 27, 2026 09:07 UTC
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Experimental gene therapy targets rare muscle disease in first human test
Disease control OngoingThis early-phase trial tests a single-dose gene therapy called SRP-9003 in 6 people with limb girdle muscular dystrophy type 2E/R4, a rare genetic muscle-weakening disease. The main goals are to check safety and see if the therapy can produce the missing beta-sarcoglycan protein …
Phase: PHASE1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:06 UTC
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Cancer-Killing virus combined with immunotherapy shows promise in advanced tumors
Disease control OngoingThis Phase 2 trial tests a genetically modified herpes virus (RP1) alone or with the immunotherapy drug nivolumab in people with advanced solid tumors, including melanoma, non-small cell lung cancer, and certain skin cancers. The study aims to see if the combination is safe and c…
Phase: PHASE2 • Sponsor: Replimune, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:05 UTC
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New hope for kids with rapid-aging disease: drug combo tested
Disease control OngoingThis 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…
Phase: PHASE2 • Sponsor: PRG Science & Technology Co., Ltd. • Aim: Disease control
Last updated Jun 27, 2026 09:03 UTC
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Sickle cell drug may boost physical function, small study hopes
Disease control OngoingThis study looks at whether voxelotor, a drug that helps red blood cells stay healthy, can improve physical function in people with sickle cell disease. Six adults aged 18-65 will take the drug for 6 months and have their walking ability tested. The goal is to see if the drug hel…
Phase: PHASE2 • Sponsor: Inova Health Care Services • Aim: Disease control
Last updated Jun 27, 2026 09:02 UTC
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New pill targets aggressive tumors with genetic flaw
Disease control OngoingThis early-phase study tests an experimental oral drug (GSK4418959) in adults with advanced solid tumors that have specific genetic changes (dMMR or MSI-H). The drug works by blocking a protein (WRN) that these tumors need to survive. The study aims to see if the drug, alone or w…
Phase: PHASE1, PHASE2 • Sponsor: GlaxoSmithKline • Aim: Disease control
Last updated Jun 27, 2026 09:01 UTC
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Gene therapy hope for kids with rare muscle-wasting disease
Disease control OngoingThis early-stage trial tests a single intravenous dose of a gene therapy (ATA-200) in 4 children aged 6-12 with limb-girdle muscular dystrophy type 2C/R5 (LGMD2C), a rare genetic muscle-weakening condition. The goal is to see if the treatment is safe and tolerable by delivering a…
Phase: PHASE1 • Sponsor: Atamyo Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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Could a common diabetes drug help manage cystic Fibrosis-Related diabetes?
Disease control OngoingThis pilot study tests the safety and feasibility of empagliflozin (Jardiance) in 8 overweight or obese adults with cystic fibrosis-related diabetes (CFRD) who are already on insulin. Participants will receive either the drug or a placebo in a crossover design. The goal is to gat…
Phase: PHASE2, PHASE3 • Sponsor: University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 08:12 UTC
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Experimental cocktail aims to revive immune attack on Hard-to-Treat cancers
Disease control OngoingThis study tests a combination of an experimental immune booster (N-803) with standard checkpoint inhibitors in people with advanced solid tumors (like lung, bladder, or skin cancer) whose disease progressed after prior immunotherapy. The goal is to see if the combo can shrink tu…
Phase: PHASE2 • Sponsor: ImmunityBio, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:11 UTC
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Gene therapy for rare Blindness-Deafness syndrome passes early safety check
Disease control OngoingThis phase 2 study follows 9 adults with Usher syndrome type 1B who previously received a single injection of the gene therapy SAR421869 under their retina. Researchers are monitoring long-term safety and whether the treatment can slow retinal degeneration. The trial is active bu…
Phase: PHASE2 • Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 08:10 UTC
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Gene therapy aims to fix sickle cell disease from the inside
Disease control OngoingThis early-phase study tests a gene therapy approach for people with severe sickle cell disease. The treatment uses a modified virus to add a gene that boosts fetal hemoglobin, which can reduce sickling and symptoms. Ten participants will receive their own gene-corrected blood st…
Phase: PHASE1 • Sponsor: David Williams • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
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New stem cell approach aims to tame rare genetic diseases
Disease control OngoingThis 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…
Phase: PHASE2 • Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
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New radiation technique aims to make stem cell transplants safer for sickle cell patients
Disease control OngoingThis early-phase trial tests a new way to prepare people with sickle cell disease for a stem cell transplant. Instead of full-body radiation, doctors use targeted radiation to the bone marrow and lymph nodes, along with drugs to prevent rejection and graft-versus-host disease. Th…
Phase: PHASE1 • Sponsor: City of Hope Medical Center • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
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New MRI technique could revolutionize cystic fibrosis care
Disease control OngoingThis study tests a special MRI technique that uses inhaled gas to create detailed images of lung function in people with cystic fibrosis. Researchers want to see how a new triple-combination therapy changes lung ventilation over time. The study involves 64 participants and aims t…
Phase: PHASE4 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Disease control
Last updated Jun 27, 2026 08:08 UTC
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Kidney drug trial for newborns halted before it began
Disease control TerminatedThis study aimed to see if the drug tolvaptan could help infants with a severe form of polycystic kidney disease (ARPKD) avoid needing dialysis or a kidney transplant in their first year of life. The trial was planned for babies between 28 days and 12 weeks old, but it was withdr…
Phase: PHASE3 • Sponsor: Otsuka Pharmaceutical Development & Commercialization, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:06 UTC
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Gene therapy trial aims to repair hearts in rare neurological disease
Disease control OngoingThis early-stage trial tests a gene therapy called LX2006 in 8 people with Friedreich's ataxia who also have heart muscle disease. The therapy delivers a healthy copy of the FXN gene to heart cells using a modified virus. The main goal is to check safety over 5 years, while also …
Phase: PHASE1, PHASE2 • Sponsor: Lexeo Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:06 UTC
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Gene therapy for rare immune disease shows promise in Long-Term study
Disease control OngoingThis study follows 9 people with a rare immune disorder called LAD-I who received a one-time gene therapy that adds a working copy of the ITGB2 gene to their own blood stem cells. Researchers want to see if the treatment safely controls the disease over many years and helps patie…
Sponsor: Rocket Pharmaceuticals Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC
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New device aims to stop aneurysm growth without open surgery
Disease control OngoingThis study tests a new device called the Nectero EAST System in 46 people with abdominal aortic aneurysms (AAA). The goal is to see if it is safe and can stop the aneurysm from growing, reducing the need for major surgery. Participants receive the device through a catheter, and d…
Phase: NA • Sponsor: Nectero Medical, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:04 UTC
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Gene-Editing breakthrough? new therapy aims to stop sickle cell pain crises
Disease control OngoingThis early-stage trial is testing a new treatment called BEAM-101 for people with severe sickle cell disease. The therapy uses a patient's own blood stem cells, which are gene-edited in a lab to produce healthy red blood cells. After a short course of chemotherapy, the edited cel…
Phase: PHASE1, PHASE2 • Sponsor: Beam Therapeutics Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:04 UTC
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Gene therapy trial for rare heart condition halted before it began
Disease control TerminatedThis study was designed to test a new gene therapy called ASP2016 for heart problems caused by Friedreich Ataxia, a rare genetic disease. The therapy aimed to deliver a healthy copy of the faulty gene to help the heart. However, the study was withdrawn before any participants wer…
Phase: PHASE1 • Sponsor: Astellas Gene Therapies • Aim: Disease control
Last updated Jun 27, 2026 08:00 UTC
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Gene therapy patients monitored for years to ensure lasting safety
Disease control OngoingThis study follows 8 people who received a one-time gene therapy (BIVV003 for sickle cell disease or ST-400 for beta-thalassemia) to see if it remains safe and effective over many years. Researchers will track serious side effects, survival, and blood markers like hemoglobin leve…
Sponsor: Sangamo Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:57 UTC
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Can a new drug slow friedreich ataxia? Long-Term trial underway
Disease control OngoingThis study is testing the long-term safety of a drug called vatiquinone in 130 people with Friedreich ataxia, a rare genetic disease that affects movement and coordination. All participants have taken vatiquinone before in earlier studies. Researchers will track side effects and …
Phase: PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:56 UTC
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Experimental gene therapy targets rare muscle disease
Disease control OngoingThis early-stage trial tests a gene therapy called ATA-100 for people with LGMDR9, a rare genetic muscle disease that causes progressive weakness. Six adults receive a single intravenous infusion of the therapy, which delivers a working copy of the FKRP gene. The main goal is to …
Phase: PHASE1 • Sponsor: Atamyo Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:54 UTC
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Gene-edited stem cells: a lasting fix for sickle cell?
Disease control OngoingThis study follows 4 people with sickle cell disease who previously received a one-time treatment of their own gene-edited stem cells (OTQ923). Researchers are checking for delayed side effects, such as new cancers or blood disorders, and measuring how long fetal hemoglobin produ…
Phase: PHASE1 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 07:53 UTC
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One-Time gene injection aims to halt rare childhood paralysis
Disease control ENROLLING_BY_INVITATIONThis early-stage trial tests a single injection of gene therapy for people with SMARD1 or CMT2S, rare diseases caused by mutations in the IGHMBP2 gene. The therapy delivers a working copy of the gene directly into the spinal fluid. Ten participants, ranging from infants to childr…
Phase: PHASE1, PHASE2 • Sponsor: Megan Waldrop • Aim: Disease control
Last updated Jun 27, 2026 07:52 UTC
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Desperate patient gets experimental stem cells for rare nerve disease
Disease control NO_LONGER_AVAILABLEThis study provides an experimental stem cell treatment (HB-adMSCs) to an 83-year-old man with Primary Lateral Sclerosis, a rare nerve disease that causes progressive muscle weakness. The patient's own banked stem cells are used, aiming to slow the disease. This is a single-patie…
Sponsor: Hope Biosciences Research Foundation • Aim: Disease control
Last updated Jun 27, 2026 07:52 UTC
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Hope for rare muscle disease: new drug enters final testing phase
Disease control OngoingThis study tests a drug called BBP-418 (Ribitol) in 81 people aged 12 to 60 with limb girdle muscular dystrophy type 2I (LGMD2I), a genetic condition that causes progressive muscle weakness. Participants receive either the drug or a placebo for 36 months to see if it slows the di…
Phase: PHASE3 • Sponsor: ML Bio Solutions, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:52 UTC
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One-Time gene therapy could free PKU patients from strict diet
Disease control OngoingThis study tests a one-time gene therapy called SAR444836 for adults with phenylketonuria (PKU), a genetic disorder that makes it hard to break down an amino acid called phenylalanine. The therapy uses a harmless virus to deliver a working copy of the missing gene. Researchers wa…
Phase: PHASE1, PHASE2 • Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 07:51 UTC
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Small study tests plerixafor for gene therapy in sickle cell
Disease control OngoingThis early-phase trial is testing whether the drug plerixafor can safely and effectively collect enough stem cells from people with sickle cell disease for a future gene therapy. Only 5 participants are enrolled, and the main goal is to check for side effects. If it works, it cou…
Phase: PHASE1 • Sponsor: City of Hope Medical Center • Aim: Disease control
Last updated Jun 26, 2026 17:32 UTC
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New shot could free teens with PKU from strict diet
Disease control OngoingThis study tests an injectable drug called pegvaliase in 55 teenagers (ages 12-17) with phenylketonuria (PKU) who have high blood Phe levels despite diet management. Half get the drug, half stick to diet only. The goal is to see if pegvaliase safely lowers Phe levels and reduces …
Phase: PHASE3 • Sponsor: BioMarin Pharmaceutical • Aim: Disease control
Last updated Jun 26, 2026 16:51 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis 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…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Could a simple stool test replace colonoscopy for cancer screening in cystic fibrosis?
Diagnosis OngoingThis study looks at whether stool-based tests (like the FIT test and Cologuard) can accurately detect colorectal cancer and precancerous polyps in adults with cystic fibrosis. Researchers will compare these non-invasive tests to the standard colonoscopy in 350 participants. The g…
Sponsor: University of Washington, the Collaborative Health Studies Coordinating Center • Aim: Diagnosis
Last updated Jun 27, 2026 12:00 UTC
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New test could predict falls in muscle disease patients
Diagnosis ENROLLING_BY_INVITATIONThis study aims to create a simple test battery to determine fall risk in people with neuromuscular disorders, such as muscular dystrophy or ALS. Researchers will assess 108 participants using several physical tests like walking, standing, and rising from a chair. The goal is to …
Sponsor: LMU Klinikum • Aim: Diagnosis
Last updated Jun 26, 2026 16:30 UTC
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New york program offers extra screening for 100,000 newborns
Diagnosis ENROLLING_BY_INVITATIONScreenPlus 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…
Sponsor: Albert Einstein College of Medicine • Aim: Diagnosis
Last updated Jun 26, 2026 16:15 UTC
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Can a puff of air make CF exercise easier? new study aims to find out.
Symptom relief OngoingThis study looks at whether a bronchodilator (a drug that opens airways) can reduce shortness of breath and improve exercise ability in adults with cystic fibrosis. Twenty participants will receive either the drug or a placebo and then do exercise tests to compare their breathing…
Phase: NA • Sponsor: University of British Columbia • Aim: Symptom relief
Last updated Jun 27, 2026 12:34 UTC
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New sonic device aims to make lung mucus clearance easier
Symptom relief OngoingThis study tests a new device called SonoHeal that uses sound waves to help people with cystic fibrosis, bronchiectasis, or COPD clear mucus from their lungs. Fifteen participants will try the device at home to see if it is easy to use and acceptable. The study also compares it t…
Sponsor: Cognita Labs LLC • Aim: Symptom relief
Last updated Jun 27, 2026 12:29 UTC
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Exercise program aims to boost muscle strength in kids with cystic fibrosis
Symptom relief OngoingThis study looks at whether a home-based strength exercise program can improve muscle health in 48 children and teens with cystic fibrosis who are taking new CFTR modulator drugs. Participants are split into an exercise group and a control group. Researchers will measure muscle s…
Phase: NA • Sponsor: Universidad Politecnica de Madrid • Aim: Symptom relief
Last updated Jun 27, 2026 12:28 UTC
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Sugar alcohol rinse could soothe sinus pain in cystic fibrosis
Symptom relief ENROLLING_BY_INVITATIONThis study tests whether rinsing the nose with a xylitol solution can reduce sinus symptoms in adults with cystic fibrosis. Participants will use both xylitol and standard saline rinses at different times to compare effects. The goal is to see if xylitol, a natural sugar alcohol,…
Phase: NA • Sponsor: Universitaire Ziekenhuizen KU Leuven • Aim: Symptom relief
Last updated Jun 27, 2026 12:28 UTC
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Exercise program aims to boost strength and endurance in kids with sickle cell disease
Symptom relief OngoingThis study is testing whether a moderate exercise program can improve strength, balance, and endurance in children with sickle cell disease. Twenty children ages 6 to 17 will take part in strengthening and endurance exercises. Researchers will measure changes in muscle strength, …
Phase: NA • Sponsor: University of Maryland, Baltimore • Aim: Symptom relief
Last updated Jun 27, 2026 12:23 UTC
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Can pressing these points ease sickle cell pain?
Symptom relief OngoingThis study tests whether people with sickle cell disease can reduce their pain by doing acupressure on themselves at home using a simple tool called AcuWand. Three hundred adults will either perform real or sham acupressure every other day for five weeks. The goal is to see if th…
Phase: NA • Sponsor: Indiana University • Aim: Symptom relief
Last updated Jun 27, 2026 12:01 UTC
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Clean air trial hopes to ease breathing for rare lung disease patients
Symptom relief ENROLLING_BY_INVITATIONThis study is testing whether using HEPA air purifiers at home can reduce respiratory symptoms and improve lung function in children and adults with Cystic Fibrosis (CF) or Primary Ciliary Dyskinesia (PCD). Participants will have two purifiers installed in their home and will und…
Phase: NA • Sponsor: University of Cyprus • Aim: Symptom relief
Last updated Jun 27, 2026 09:05 UTC
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New program aims to ease burden on families of kids with rare diseases
Symptom relief ENROLLING_BY_INVITATIONThis 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 …
Phase: NA • Sponsor: Children's National Research Institute • Aim: Symptom relief
Last updated Jun 27, 2026 09:00 UTC
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Flaxseed may ease sickle cell pain in kids
Symptom relief OngoingThis study looks at whether a plant-based omega-3 supplement from flaxseed can reduce pain and improve quality of life in children with sickle cell disease. About 30 children aged 5-18 will take flaxseed and report their pain levels. The goal is to see if this natural option is m…
Phase: NA • Sponsor: University of Alabama at Birmingham • Aim: Symptom relief
Last updated Jun 27, 2026 08:13 UTC
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New study tests mindfulness therapy for sleep in sickle cell disease
Symptom relief TerminatedThis study looks at whether acceptance and commitment therapy (ACT) can improve sleep for adults with sickle cell disease. Participants will have weekly video chats with a coach for 8 weeks and wear a wrist device to track sleep. The goal is to see if this approach is practical a…
Phase: NA • Sponsor: National Cancer Institute (NCI) • Aim: Symptom relief
Last updated Jun 27, 2026 07:58 UTC
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Can acupuncture ease sickle cell pain? new study investigates
Symptom relief OngoingThis study looks at whether acupuncture can help manage chronic pain in people with sickle cell disease. Researchers will use brain scans and other tests to understand how acupuncture affects pain signals. The study involves 60 participants aged 14 to 80 who have sickle cell dise…
Phase: NA • Sponsor: Indiana University • Aim: Symptom relief
Last updated Jun 27, 2026 07:54 UTC
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Tiny study probes Mitapivat's inner workings in sickle cell
Knowledge-focused OngoingThis observational study will examine how the drug mitapivat changes red blood cells in 6 people with sickle cell disease. Researchers will measure oxygen binding and cell survival markers from blood samples and muscle oxygen tests. The goal is to understand the drug's effects, n…
Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Knowledge-focused
Last updated Jul 03, 2026 00:00 UTC
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Blood samples sought to unlock secrets of sickle cell disease
Knowledge-focused ENROLLING_BY_INVITATIONThis study collects blood and other samples from people with sickle cell disease and healthy volunteers to help researchers understand how inflammation affects blood vessels. Up to 2,000 adults aged 18 and older will take part. The samples will be used in lab tests to support fut…
Sponsor: National Heart, Lung, and Blood Institute (NHLBI) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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Massive gene hunt for deafness in pakistan could unlock new clues
Knowledge-focused ENROLLING_BY_INVITATIONThis study aims to find the genes that cause inherited hearing loss by analyzing DNA from 24,000 people in large Pakistani families. Researchers will compare affected and unaffected family members to identify new deafness genes. The goal is to improve genetic testing and counseli…
Sponsor: National Institute on Deafness and Other Communication Disorders (NIDCD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Smart bottle could reveal if teens with sickle cell take their meds
Knowledge-focused OngoingThis study looks at whether a special electronic pill bottle (AdhereTech) can accurately track how often teens with sickle cell disease take their medication, hydroxyurea. About 36 teens aged 12 to 17 will use the bottle for two months. Researchers will compare the bottle's data …
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Tiny bug may warn of big infection in kids with cystic fibrosis
Knowledge-focused OngoingThis study follows 70 infants with cystic fibrosis to see if a specific germ (Porphyromonas catoniae) found in their body at 12 months old can predict whether they will get a serious lung infection with Pseudomonas aeruginosa by age 3. Researchers collect sputum, stool, and blood…
Phase: NA • Sponsor: University Hospital, Brest • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Breath-Testing backpack trial for cystic fibrosis pulled before start
Knowledge-focused TerminatedThis study aimed to see if a portable device could reliably collect breath samples from people with cystic fibrosis and healthy volunteers while they walked in parks or city streets. The goal was to measure certain substances in the breath that might show how the environment affe…
Phase: NA • Sponsor: Centre Hospitalier Intercommunal Creteil • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
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Paving the way: new study aims to sharpen tools for LGMD R1 trials
Knowledge-focused OngoingThis 24-month observational study follows 100 people aged 12–50 with Limb Girdle Muscular Dystrophy type R1 (LGMD R1). Researchers will test whether a motor function scale called NSAD and muscle fat measurements from MRI can reliably track disease progression. The goal is to vali…
Sponsor: Virginia Commonwealth University • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 UTC
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New brain scans could reveal hidden clues in rare nerve disease
Knowledge-focused ENROLLING_BY_INVITATIONThis study uses special brain scans (MRS) to measure two natural chemicals, GABA and glutathione, in people with Friedreich's Ataxia (FRDA). Researchers want to see if these chemicals can serve as reliable markers of the disease and how they change after taking the drug Omaveloxo…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:05 UTC
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Hopkins launches massive breast cancer data bank
Knowledge-focused OngoingThis study creates a long-term repository of blood, tissue, and health information from 810 people with breast cancer, benign breast disease, or no breast issues. The goal is to provide researchers with resources to better understand breast cancer. No treatment or experimental th…
Sponsor: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC
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Cystic fibrosis study targets hidden bacterial threat
Knowledge-focused OngoingThis study looks at how different types of Achromobacter bacteria affect the lungs of people with cystic fibrosis on Réunion Island. Researchers will analyze sputum samples from 17 patients to see if certain species cause more lung infections or lead to worse outcomes. The goal i…
Sponsor: Centre Hospitalier Universitaire de la Réunion • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC
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Scientists hunt for clues to ichthyosis in skin and blood
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at skin and blood samples from 200 people with ichthyosis (a genetic condition causing dry, scaly skin) and healthy volunteers. Researchers want to find specific markers that could help them understand the disease better and develop new treatments. No treatment i…
Sponsor: Northwestern University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:25 UTC
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Cystic fibrosis breathing study pulled before it started
Knowledge-focused TerminatedThis study planned to test whether a specific breathing technique called autogenic drainage helps clear mucus and improve lung function in people with cystic fibrosis. The study was withdrawn before enrolling any participants, so no results are available. It would have measured c…
Phase: NA • Sponsor: Cliniques universitaires Saint-Luc- Université Catholique de Louvain • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:24 UTC
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Gene therapy for cystic fibrosis: 15-Year safety watch begins
Knowledge-focused OngoingThis study follows 5 people with cystic fibrosis who previously received a single dose of BI 3720931 gene therapy or placebo. No new treatment is given. Researchers will monitor participants for up to 15 years to check for long-term side effects and track lung function. The goal …
Phase: PHASE1, PHASE2 • Sponsor: Boehringer Ingelheim • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:07 UTC
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Cystic fibrosis diabetes gene hunt: 1,500 patients sought
Knowledge-focused ENROLLING_BY_INVITATIONThis study aims to find the genes and other factors that explain why some people with cystic fibrosis develop diabetes while others do not. Researchers will analyze DNA from 1,500 people with cystic fibrosis and their parents. The goal is to better understand the causes of cystic…
Sponsor: Johns Hopkins University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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Sickle cell blood study pulled before it began
Knowledge-focused TerminatedThis study was designed to see how long specially treated red blood cells survive in adults with sickle cell disease who receive regular blood exchange therapy. It was withdrawn before any participants were enrolled, so no results are available. The goal was to better understand …
Phase: PHASE2 • Sponsor: Cerus Corporation • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC
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Rare brain disease study seeks to unlock mysteries of atypical TPP1 deficiency
Knowledge-focused OngoingThis study follows 5 people with a rare, late-onset form of TPP1 deficiency (a brain disease) to track how their symptoms change over time. Researchers will use tests like brain scans, eye exams, and movement assessments to better understand the condition. The goal is to gather i…
Sponsor: Children's Hospital of Orange County • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC
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Sleep apnea treatment may help blood pressure, especially in the very sleepy
Knowledge-focused OngoingThis study looks at whether treating obstructive sleep apnea (OSA) with a breathing device (CPAP) lowers blood pressure more in people who are very sleepy compared to those who are not. Researchers will analyze data from about 10,000 adults with OSA from previous studies. The goa…
Sponsor: King's College London • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Study probes Patients' minds, not their tumors
Knowledge-focused OngoingThis study looks at how older adults (65+) with cancer understand their illness and what they value in life before and after a major operation. Researchers will interview 100 patients to learn about their awareness, expectations, and decision-making. No new drug or treatment is b…
Sponsor: Tomas Bata Hospital, Czech Republic • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:02 UTC
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Scientists probe hidden triggers of sickle cell pain crises
Knowledge-focused OngoingThis study looks at how platelets and inflammation work together during painful crises in adults with sickle cell disease. Researchers will take blood samples from 25 patients hospitalized for a crisis to analyze these processes. The goal is to better understand the disease, not …
Sponsor: University Hospital, Toulouse • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:02 UTC
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New study aims to uncover muscle health secrets in cystic fibrosis
Knowledge-focused OngoingThis study is measuring body composition, muscle strength, and nutrition in 300 adults with cystic fibrosis. Researchers are comparing simple tests like grip strength and walking distance to a standard body scan. The goal is to find better ways to track health and guide future tr…
Sponsor: Jaeb Center for Health Research • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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New national registry aims to improve care for rare genetic polyposis syndromes
Knowledge-focused OngoingThis study is a national registry collecting data from 1500 people with familial adenomatous polyposis (FAP) and related conditions across 28 Italian centers. It aims to better understand how these diseases progress, how they are currently managed, and what factors influence outc…
Sponsor: Fondazione IRCCS Istituto Nazionale dei Tumori, Milano • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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Cystic fibrosis and diabetes: new study aims to uncover hidden links
Knowledge-focused ENROLLING_BY_INVITATIONThis study is observing 162 adults with cystic fibrosis at a Belgian hospital to see how having diabetes affects their quality of life, lung function, and nutrition. Researchers will compare those with and without diabetes using questionnaires and breathing tests. The goal is to …
Sponsor: Erasme University Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:09 UTC
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New MRI scans could reveal hidden lung changes in cystic fibrosis patients
Knowledge-focused OngoingThis study uses advanced MRI scans to track lung structure and function in people with cystic fibrosis who are taking CFTR-modulator therapy. Researchers will compare MRI results with standard breathing tests and quality-of-life measures. The study includes healthy volunteers, st…
Sponsor: The Hospital for Sick Children • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
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Silent strokes in sickle cell adults: a hidden crisis revealed
Knowledge-focused OngoingThis study follows 102 adults with sickle cell disease to track how often silent and overt strokes occur. Participants undergo regular MRI scans and neurological exams over 3.5 years. The goal is to gather data that could lead to the first stroke prevention trials specifically fo…
Sponsor: Vanderbilt University Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC
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Scientists hunt for hidden genes behind aortic aneurysms
Knowledge-focused OngoingThis 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 …
Sponsor: Yale University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC
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Eye disease study aims to pave way for future treatments
Knowledge-focused OngoingThis study follows 127 people with a genetic eye condition called USH2A-related retinal degeneration, which can cause vision loss and hearing problems. Researchers measure changes in vision, retinal sensitivity, and mobility over several years. The goal is to understand how the d…
Sponsor: Jaeb Center for Health Research • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 UTC
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Holistic education study for stress withdrawn before starting
Knowledge-focused TerminatedThis study was designed to test a holistic education program for stress management in people from colonized English-speaking countries. It aimed to help with conditions like stress, PTSD, anxiety, and fatigue using pastoral counseling and self-care activities. However, the study …
Phase: NA • Sponsor: Goddess Zena I. Jones • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 UTC
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Scientists map rare blindness to speed future cures
Knowledge-focused OngoingThis study follows 44 people with a rare genetic form of Usher syndrome caused by PCDH15 mutations. Over 48 months, researchers measure how their vision changes using eye exams and imaging. The goal is to identify the best ways to track disease progression, which will help design…
Sponsor: Jaeb Center for Health Research • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 UTC
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No-Needle lung scan reveals hidden damage in cystic fibrosis kids
Knowledge-focused OngoingThis study tests a new, non-contrast MRI technique to map blood flow in the lungs of 26 children with cystic fibrosis (ages 6–21). The goal is to see if blood vessel damage happens early, before standard breathing tests show problems. Participants will be scanned at the start and…
Phase: PHASE4 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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Which reversal drug causes fewer bathroom problems after surgery?
Knowledge-focused OngoingThis study reviewed records of 70,000 adults who had non-urinary surgery under general anesthesia. It compared two drugs used to reverse muscle relaxants: sugammadex and neostigmine (given with atropine or glycopyrrolate). The goal was to see which drug is linked to fewer cases o…
Sponsor: Beth Israel Deaconess Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:13 UTC
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New web app aims to help sickle cell patients plan healthy families
Knowledge-focused OngoingThis study tests a web-based tool called CHOICES that provides tailored information about reproductive health options for people with sickle cell disease or trait. The study involves 506 adults aged 18-45 who plan to have a child within two years. The goal is to see if the tool i…
Phase: NA • Sponsor: University of Florida • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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New study tracks muscle decline in rare muscular dystrophy
Knowledge-focused OngoingThis study follows 25 people with limb-girdle muscular dystrophy type 2A (LGMD2A), a rare genetic disease that causes progressive muscle weakness. Researchers will measure how muscle strength changes over time and how it affects quality of life. The goal is to better understand t…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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120,000-Person study hopes to crack the code of chronic illness
Knowledge-focused TerminatedThis observational study plans to enroll 120,000 people with various chronic diseases like pancreatitis, diabetes, and arthritis. Researchers will collect blood samples and health data to study how genetics and lifestyle affect disease progression. The goal is to find common dise…
Sponsor: University of Pittsburgh • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC
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New study aims to help cystic fibrosis patients discuss lung transplants earlier
Knowledge-focused OngoingThis study tests whether a research website helps people with cystic fibrosis (CF) feel more prepared to discuss lung transplant with their doctors. About 132 adults with CF and low lung function will use the website and attend Zoom sessions over 6 months. The goal is to increase…
Phase: NA • Sponsor: University of Washington • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC
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New study peers inside lungs to uncover cystic fibrosis damage
Knowledge-focused OngoingThis study aims to understand how small blood vessels in the lungs change as cystic fibrosis (CF) lung disease progresses. Researchers will use imaging to measure blood vessel volume in 86 people with CF aged 5-21. The goal is to learn more about the disease, not to test a new tr…
Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC
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New Micro-Camera could spot early lung damage in cystic fibrosis
Knowledge-focused OngoingThis study is testing a tiny camera called micro OCT that can take detailed pictures of cells inside the lungs and nose. Researchers want to see if it works well in people with cystic fibrosis and other lung conditions. The goal is to eventually use this imaging to detect early d…
Sponsor: University of Alabama at Birmingham • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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Scientists investigate link between blood fats and sickle cell crises
Knowledge-focused OngoingThis study looks at how different types of fats in the blood (like cholesterol) are linked to complications in adults with sickle cell disease. Researchers will follow 116 participants from the French Caribbean islands to track their fat levels over time and during acute events l…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de la Guadeloupe • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC
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48-Hour test may predict who benefits from PKU drug
Knowledge-focused OngoingThis study tests whether a 48-hour BH4 loading test can predict which people with phenylketonuria (PKU) will respond to treatment. Twenty participants receive BH4 and have their blood phenylalanine levels measured over two days. The goal is to link test results with each person's…
Phase: PHASE1 • Sponsor: Sohag University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC
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Scientists watch LGMD progress in 205 patients over years
Knowledge-focused OngoingThis study follows 205 people with four types of limb-girdle muscular dystrophy (LGMD) to understand how the disease changes over time. Participants will have their muscle strength, movement, and breathing tested regularly for up to 5 years. No treatment is given; the goal is to …
Sponsor: Sarepta Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC
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New study tracks lung function in pregnant women with cystic fibrosis
Knowledge-focused OngoingThis study follows 285 pregnant women with cystic fibrosis to see how CFTR modulators affect lung function during and after pregnancy. Researchers will measure breathing capacity before, during, and up to two years after delivery. The goal is to better understand how these medica…
Sponsor: Amalia Magaret • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC
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Scientists hunt for hidden sources of lung infections in cystic fibrosis
Knowledge-focused ENROLLING_BY_INVITATIONThis study aims to understand how nontuberculous mycobacteria (NTM) spread among people with cystic fibrosis (CF). NTM infections are hard to treat and common in CF, but their sources are unclear. Researchers will track 100 participants with CF and NTM, testing dust and water in …
Sponsor: University of North Carolina, Chapel Hill • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC
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Massive study tracks sweat changes in 5000 CF patients on new drugs
Knowledge-focused OngoingThis study looks at 5000 people with cystic fibrosis who are already taking approved CFTR modulator medicines. Researchers measure sweat chloride levels before and after treatment to see how the drugs affect the body. The goal is to better understand the link between sweat chlori…
Sponsor: Nicole Hamblett • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC
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New study aims to map rare muscle disease progression
Knowledge-focused TerminatedThis study was designed to track the natural course of gamma-sarcoglycanopathy (LGMDR5), a rare muscle-weakening disease, over two years. Researchers planned to measure changes in muscle strength, walking ability, and daily function in patients aged 6 to 35. The goal was to bette…
Sponsor: Atamyo Therapeutics • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC
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CF Drug's hidden impact on bones and muscles revealed
Knowledge-focused OngoingThis study looks at how CFTR modulators, a type of cystic fibrosis treatment, affect bone strength and muscle mass in adults with CF. Researchers will measure changes in bone density and lean body mass over 12 to 24 months. The goal is to understand whether these treatments help …
Sponsor: Indiana University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC
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Tiny power plants in cells may weaken bones, new study hints
Knowledge-focused OngoingThis 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 …
Phase: NA • Sponsor: Aalborg University Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC
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Genetic clues to childhood obesity: study seeks answers
Knowledge-focused OngoingThis study looks at the genes of 1000 people with severe early-onset obesity to find rare genetic causes. It focuses on conditions like Bardet-Biedl syndrome. The goal is to better understand these conditions and improve how they are diagnosed. Participants provide a blood or sal…
Sponsor: Rolfs Consulting und Verwaltungs-GmbH (RCV) • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC
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Scientists hunt for genes behind liver disease in cystic fibrosis
Knowledge-focused OngoingThis study looks at genes, other than the CF gene, that might explain why some people with cystic fibrosis develop severe liver disease while others do not. Researchers are analyzing blood samples and medical records from 154 participants with CF who have serious liver problems. …
Sponsor: University of North Carolina, Chapel Hill • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC
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Gene hunt: why some CF patients have milder lung disease
Knowledge-focused OngoingThis study examines how different genes influence the severity of lung disease in people with cystic fibrosis. Researchers will analyze genetic data from 600 participants to identify gene variants linked to milder or more severe lung problems. The goal is to better understand the…
Sponsor: University of North Carolina, Chapel Hill • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC
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Can text messages help sickle cell patients stick to their meds?
Knowledge-focused OngoingThis study interviews and surveys 70 adolescents and adults with sickle cell disease to understand why they sometimes skip their daily medications. Researchers will also ask what kind of text-message reminders patients would find helpful. The goal is to design a better support sy…
Sponsor: Vanderbilt University • Aim: Knowledge-focused
Last updated Jun 26, 2026 17:56 UTC
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Back brace showdown: jewett vs. spinomed – which one restricts movement more?
Knowledge-focused ENROLLING_BY_INVITATIONThis 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 …
Phase: NA • Sponsor: Mustafa Tahsin Ozer • Aim: Knowledge-focused
Last updated Jun 26, 2026 16:43 UTC
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Hidden brain damage in young sickle cell patients: new study aims to find answers
Knowledge-focused OngoingThis study looks at how common strokes and silent brain injuries are in young adults (ages 16-25) with sickle cell anemia, especially in Nigeria where the disease is widespread. Researchers will use brain scans and blood tests to check for damage and identify risk factors like hi…
Sponsor: Vanderbilt University Medical Center • Aim: Knowledge-focused
Last updated Jun 26, 2026 14:19 UTC