Rare diseases research
Trials focused on rare and genetic conditions affecting fewer than 1 in 2,000 people.
253 indexed studies · 116 currently recruiting
Top conditions in this hub
- Cystic Fibrosis39
- Sickle cell disease32
- Duchenne muscular dystrophy28
- Hemophilia A21
- Hemophilia B11
- Huntington Disease11
- Cystic Fibrosis (CF)9
- Rare Diseases9
- Duchenne muscular dystrophy (DMD)9
- Haemophilia A6
- Haemophilia B5
- Huntington's Disease5
- Severe Hemophilia A4
- Non-cystic Fibrosis Bronchiectasis4
- Hemoglobinopathies3
- Hemophilia3
Recent studies
- RecruitingNA
Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies
This study looks at a tiny molecule called miR-1 in blood to see if it can help doctors understand and track muscle diseases like Duchenne muscular dystrophy. We want to find out if changes in miR-1 levels show how the disease is progressing.
France - Enrolling by invitation
A Long-Term Follow-Up Study of Participants With Sickle Cell Disease or Transfusion Dependent β-Thalassemia Who Received EDIT-301
This study is checking on people with sickle cell disease or a type of thalassaemia called transfusion-dependent beta-thalassaemia. They all previously received a special treatment called EDIT-301. We want to see how safe and effective this treatment has been for them over a long time.
United States · Canada - RecruitingPHASE2
NS-089/NCNP-02-201 in Boys With Duchenne Muscular Dystrophy (DMD)
This study is testing a new medicine, NS-089/NCNP-02, for Duchenne muscular dystrophy (DMD) in boys aged 4 to 14. It's for those with a specific gene change (exon 44 skipping) and involves weekly IV infusions to see if the medicine is safe and helps their condition.
United States · Australia · Canada - Enrolling by invitation
A Study Following Males With Haemophilia B on Prophylaxis With Refixia/REBINYN
This study looks at how well Refixia/REBINYN works and if it has any side effects for males with Haemophilia B over a long time. Participants will receive their usual treatment and share information about their health, bleeds, and quality of life.
Austria · Belgium · Canada - Active not recruitingPHASE3
Research Study to Look at How Well the Drug Concizumab Works in Your Body if You Have Haemophilia With Inhibitors
This study looks at a new medicine called concizumab for haemophilia A or B with inhibitors. It aims to see if it can prevent bleeding and is safe. Some people will get the new medicine straight away, others later, all through daily injections at home.
United States · Algeria · Australia - Active not recruitingPHASE3
A Research Study Looking at Long-term Treatment With Mim8 in People With Haemophilia A (FRONTIER 4)
This study is testing a new medicine called Mim8 for people with haemophilia A, including those with inhibitors. Mim8 aims to prevent bleeding episodes by helping blood clot. It's for people already in other Mim8 studies.
United States · Austria · Belgium - Active not recruitingPHASE3
Research Study to Look at How Well the Drug Concizumab Works in Your Body if You Have Haemophilia Without Inhibitors
This study looks at a new medicine called concizumab for people with haemophilia A or B without inhibitors. It aims to see how well it prevents bleeding and if it's safe. Participants will take the medicine daily, usually by injection under the skin, for up to 8 years.
United States · Algeria · Australia - RecruitingPHASE2, PHASE3
Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study
This study looks at the long-term safety and effects of a medicine called Givinostat for boys with Duchenne muscular dystrophy. It's for those who have already taken Givinostat in a previous study to see how it helps over time.
United States · Belgium · Canada - Active not recruiting
Long-Term Safety and Efficacy of Spark-Sponsored Gene Therapies in Males With Hemophilia A
This study looks at the long-term safety and effectiveness of new gene therapies, SPK-8011 and SPK-8016, for men with haemophilia A. It follows participants who have already received one of these treatments to see how they're doing over many years.
United States · Australia · Canada - RecruitingNA
Fetal Cell Receptors Repertoire
This study looks at special cells from pregnancy that stay in a mother's body. We want to see how these cells help heal skin wounds like leg ulcers after childbirth. We'll compare cells from women with ulcers to those without, to understand how healing works.
France - Active not recruitingPHASE3
A Study to Compare Safety and Efficacy of High Doses of Eteplirsen in Participants With Duchenne Muscular Dystrophy (DMD) (MIS51ON)
This study is looking at higher doses of a medicine called eteplirsen for boys with Duchenne muscular dystrophy (DMD). It's checking if these higher doses are safe and work better than the usual dose to help manage the condition.
United States · Colombia · Czechia - Active not recruitingPHASE3
A Study Evaluating Physical Activity and Joint Health in Severe Haemophilia A Patients ≥12 Years Treated Once Weekly With Efanesoctocog Alfa
This study is looking at how a new medicine, efanesoctocog alfa, affects physical activity and joint health in people aged 12 and over with severe haemophilia A. Participants will use a special activity tracker and diary.
Austria · Croatia · Czechia - Recruiting
Identification of Dysglycemia With Continuous Glucose Monitoring to Assess Clinical Evolution in Cystic Fibrosis
This study looks at how a small device, called a continuous glucose monitor (CGM), can help people with cystic fibrosis (CF) keep an eye on their sugar levels. We want to see if these monitors can spot early sugar problems and predict future health changes more easily than current tests.
Canada · France - Enrolling by invitation
Adverse Event Data Collection From External Registries on Nonacog Beta Pegol
This study looks at safety information from existing patient records for people with haemophilia B who have been treated with a medicine called nonacog beta pegol. Researchers are gathering information from large databases like PedNet and EUHASS to better understand any side effects from this treatment.
Netherlands · United Kingdom - Recruiting
Canadian Observational Study Evaluating the Long-term IMPACT of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators on People With CF
This study in Canada looks at how well Trikafta and similar cystic fibrosis (CF) medicines work over time for people with CF. Researchers want to see if these treatments keep people healthier in the long run and help find the best care for each person.
Canada - Recruiting
Circadian Rhythm Disorders in Children With Cystic Fibrosis Under CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) Modulators
This study looks at sleep patterns, called chronotypes, in children with cystic fibrosis (CF) who are taking new CFTR modulator medicines like Kaftrio-Kalydeco. We want to see if these medicines affect their sleep and daily rhythms, which can impact their overall health and how well they feel.
France - Recruiting
Severe Congenital Hemostatic Defects, Cerebral MIcrobleeds and COGnition
This study looks at tiny brain bleeds in people with severe bleeding disorders like haemophilia. We want to see if these bleeds affect memory and thinking, using special brain scans and tests to understand why they happen.
France - RecruitingNA
Pilot Study "AHSP as a Biomarker of Sickle Cell Disease in a Population of Adults and Children"
This study looks at a special protein called AHSP in people with sickle cell disease. We want to see if measuring AHSP levels in the blood can help us understand more about the condition in both children and adults. It's a simple blood test, not a new treatment.
France - RecruitingPHASE3
Efficacy and Safety of CSL222 (Etranacogene Dezaparvovec) Gene Therapy in Adults With Hemophilia B With Pretreatment Adeno-associated Virus Serotype 5 (AAV5) Neutralizing Antibodies (Nabs)
This study looks at a gene therapy called CSL222 for adults with Hemophilia B. It specifically checks if the treatment helps reduce bleeding in people who already have certain natural antibodies to the gene therapy virus.
United States · Australia · Canada - Recruiting
Dynamics of the Anti-factor VIII Antibody Signature During Treatment With Emicizumab
This study looks at how the body's natural defences (antibodies) to Factor VIII change in people with severe haemophilia A who are taking a medicine called emicizumab. We'll use leftover blood samples from your normal check-ups to understand this better, without extra tests.
Germany - RecruitingPHASE3
A Study to Investigate the Efficacy and Safety of Fitusiran Prophylaxis in Male Participants Aged 1 to Less Than 12 Years With Hemophilia A or B
This study is testing a new medicine, Fitusiran, for boys aged 1 to 11 with severe haemophilia A or B. It aims to see how well it prevents bleeding and if it's safe. Some boys will receive Fitusiran for the first time, while others have already been taking it.
United States · Belgium · Brazil - Not yet recruitingPHASE2
A Study to Evaluate Safety and Explore Efficacy of New Lipase NHS7108 in Adult Participants With Exocrine Pancreatic Insufficiency.
This study is testing a new capsule, NHS7108, for people with Exocrine Pancreatic Insufficiency (EPI). It compares the new medicine to a standard treatment (Zenpep®) to see how safe it is and how well it helps the body digest food.
United States · Bulgaria · Hungary - RecruitingPHASE2, PHASE3
Study to Evaluate the Pharmacodynamics, Safety and Efficacy of SKY-0515 in Participants With Huntington's Disease
This study is testing a new oral drug, SKY-0515, for Huntington's disease. Researchers want to see if it can reduce harmful proteins in the brain and improve symptoms. It's for adults aged 25 and over with a confirmed diagnosis of Huntington's.
Argentina · Brazil · Canada - Active not recruitingPHASE3
Open-Label Rollover Study for Continuing Valbenazine Administration for the Treatment of Chorea Associated With Huntington Disease
This study looks at the long-term safety and effects of a medicine called valbenazine for people with Huntington's disease who experience involuntary movements called chorea. It's for those who have been in a previous study or meet specific new criteria.
United States · Canada - Enrolling by invitationPHASE3
Long-term Study to Evaluate Safety and Tolerability of Valbenazine in Participants With Chorea Associated With Huntington Disease in Canada
This study looks at the long-term safety of a medicine called valbenazine for people in Canada with Huntington's disease who experience involuntary movements. It's for those who have already been in a previous study with this medicine.
Canada - Active not recruitingPHASE4
A Study to Evaluate Overall Health, Physical Activity, and Joint Outcomes in Participants With Severe or Moderate Hemophilia A Without Factor VIII Inhibitors on Emicizumab Prophylaxis
This study looks at how a medicine called emicizumab affects the overall health, activity levels, and joints of people with moderate or severe haemophilia A. It's for those already receiving another treatment and planning to switch to emicizumab.
United States · Brazil · Canada - Enrolling by invitationPHASE3
A Long-term Follow-up Study of Participants Who Received Delandistrogene Moxeparvovec (SRP-9001) in a Previous Clinical Study
This study is checking how people who previously received a treatment called delandistrogene moxeparvovec for Duchenne muscular dystrophy are doing over time. Researchers want to see if the treatment is safe and effective in the long run. No new treatment will be given during this study.
United States · Belgium · Germany - Active not recruiting
Evaluating Effectiveness and Long Term Safety of Damoctocog Alfa Pegol in Patients, Who Have Been Diagnosed With Hemophilia A
This study looks at how a medicine called Jivi (damoctocog alfa pegol) works for people with haemophilia A in their daily lives. It checks its long-term safety and how happy patients and doctors are with it.
United States · Belgium · Brazil - Active not recruiting
Observatory of Patients With Haemophilia B Treated by IdElvion®
This study looks at how a medicine called Idelvion® works for people in France with haemophilia B in their everyday lives. It aims to confirm it's effective and safe, building on earlier research.
France - Recruiting
Study of Vitamin B12 Metabolism in Children With Sickle Cell Disease Exposed to MEOPA
This study looks at how a gas called MEOPA, used for pain, might affect vitamin B12 levels in children with sickle cell disease. We want to understand if MEOPA causes a B12 shortage and if this leads to any problems.
France - Active not recruiting
Analysis of Remote Monitoring/Virtual Clinic Data in Adult Patients With Cystic Fibrosis (Project Breathe)
This study looks at how home monitoring helps adults with Cystic Fibrosis. It checks if using devices like lung function testers and heart rate monitors at home can spot lung infections earlier and how people find using this technology.
United Kingdom - Active not recruitingPHASE4
Hyperpolarized Imaging for New Treatments
This study looks at new ways to check how well new cystic fibrosis (CF) medicines work. It uses special MRI scans with a harmless gas to see lung changes earlier and better, aiming for more personalised care for people with CF.
United States · Canada - RecruitingPHASE3
Open-Label Extension Study of Marstacimab in Hemophilia Participants With or Without Inhibitors
This study looks at the long-term safety and effectiveness of a new medicine, marstacimab, for people with haemophilia A or B. It includes patients who already took part in earlier studies of this medicine.
United States · Argentina · Australia - RecruitingNA
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
This study aims to use a detailed genetic test called Whole Genome Sequencing (WGS) to help diagnose rare diseases and conditions caused by genetic changes. It's for people whose illness doesn't have a clear cause yet, or where a genetic link is suspected.
Germany - RecruitingPHASE1, PHASE2
A Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Participants With Duchenne Muscular Dystrophy
This study is looking for boys aged 4-10 with Duchenne muscular dystrophy (DMD) with a specific genetic change. It's testing a new medicine called BMN 351 to see how safe it is and how well the body handles it. They want to find the right dose for future studies.
Canada · Italy · Netherlands - Recruiting
Evaluation of HEArt invoLvement in Patients With FABRY Disease
This study looks at people with Fabry disease to understand how their hearts are affected. Researchers want to find out what causes heart rhythm problems, sudden heart failure, and early death, to help improve care for these patients.
Germany - Recruiting
Genetic Causes of Discrepant Clinic in Monogenic Twins
This study looks at identical twins where one twin has a rare, unexplained illness, and the other is healthy. Researchers use advanced genetic tests to find out if there's a genetic cause for the illness. The goal is to help diagnose and understand these conditions better.
Germany - RecruitingPHASE3
A Study of SGT-003 Gene Therapy in Ambulant Males With Duchenne Muscular Dystrophy (IMPACT DUCHENNE)
This study is testing a new gene therapy, SGT-003, for boys aged 7-11 with Duchenne Muscular Dystrophy who can still walk. It's comparing SGT-003 to a dummy treatment (placebo) to see if it helps and is safe. Participants will be monitored for at least 5 years.
United States · Australia · Canada - Enrolling by invitation
SCRIPT: Sickle Cell Risk in Pregnancy Tool
This study looks at a new tool to predict pregnancy risks for women with Sickle Cell Disease (SCD). It aims to identify who might benefit most from extra care, helping doctors give the right support while avoiding unnecessary treatments for others.
United States · Canada - Active not recruitingNA
Microbial Biomarkers of EArly Pseudomonas Aeruginosa Colonization in CHildren With Cystic Fibrosis
This study looks for early signs in babies with cystic fibrosis (CF) that might predict if they will get a common lung infection called Pseudomonas aeruginosa later. We are checking stool samples for certain bacteria at 12 months to see if it links to infections at 3 years old.
France