Rare diseases research
Trials focused on rare and genetic conditions affecting fewer than 1 in 2,000 people.
264 indexed studies · 126 currently recruiting
Top conditions in this hub
- Cystic Fibrosis39
- Sickle cell disease34
- Duchenne Muscular Dystrophy28
- Hemophilia A23
- Hemophilia B12
- Huntington Disease12
- Duchenne Muscular Dystrophy (DMD)10
- Cystic Fibrosis (CF)10
- Rare Diseases9
- Haemophilia A6
- Huntington's Disease6
- Haemophilia B5
- Non-cystic Fibrosis Bronchiectasis4
- Severe Hemophilia A4
- DMD3
- Sickle cell anaemia3
Recent studies
- RecruitingPHASE2
Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients
This study is testing a new medicine, SAT-3247, for boys aged 7-9 with Duchenne muscular dystrophy. We want to find the best dose, see if it's safe, and check if it helps. Some boys will get the real medicine, others a dummy medicine.
United States · Australia · Belgium - Ongoing, recruitingTherapeutic confirmatory (Phase III)
Open-label safety study in adults and adolescents with haemophilia A with and without FVIII inhibitors switching directly from emicizumab prophylaxis to NNC0365-3769 (Mim8) prophylaxis.
This study looks at a new medicine called denecimig for people with haemophilia A. It checks how safe it is when people switch from a different medicine (emicizumab). Doctors want to see if there are any new health problems when people start taking denecimig.
Belgium · Spain · France - Ongoing, recruitingTherapeutic use (Phase IV)
An 18-month low-interventional prospective, multicentre study to assess joint outcomes in patients with haemophilia A or B on prophylaxis with efmoroctocog alfa or eftrenonacog alfa
This study looks at how well different medicines (Elcocta and Alprolix) help people with haemophilia A or B protect their joints. Researchers will follow participants for 18 months to see if these treatments prevent joint problems.
Hungary · Ireland · Czechia - Ongoing, recruitingTherapeutic exploratory (Phase II)
A RANDOMIZED DOUBLE-BLIND PHASE IIA STUDY EVALUATING THE EFFICACY, SAFETY, PHARMACOKINETICS, AND PHARMACODYNAMICS OF CROVALIMAB AS ADJUNCT TREATMENT IN PREVENTION OF VASO-OCCLUSIVE EPISODES (VOE) IN SICKLE CELL DISEASE (SCD)
This study is testing a new medicine, crovalimab, for adults with sickle cell disease. It aims to see if this medicine can help prevent painful crises, called vaso-occlusive episodes (VOEs), and other problems by working alongside their usual treatment.
Netherlands · Spain · France - AuthorisedTherapeutic confirmatory (Phase III)
A Phase 3 Study to Evaluate Efficacy and Safety of a Single Dose of Exa-cel in Subjects with Severe Sickle Cell Disease, βS/βC Genotype
This study looks at a new gene therapy, exa-cel, for people with severe sickle cell disease. It aims to see if a single treatment can stop painful sickle cell crises for a year or more. Researchers will check if it's safe and how well it helps patients.
Italy · France - Enrolling by invitation
Long-term Follow-up Study of Male Adults With Hemophilia B Previously Treated With Etranacogene Dezaparvovec (CSL222)
This study is checking on men with haemophilia B who previously received a gene therapy called etranacogene dezaparvovec. It aims to understand the long-term safety and how well the treatment continues to work over time after their original studies finished.
United States · Belgium · Denmark - RecruitingNA
Long-term Evaluation of the SIMEOX Device at Home in Non-cystic Fibrosis Bronchiectasis
This study looks at how a device called SIMEOX, used at home, might help people with a lung condition called non-cystic fibrosis bronchiectasis. Researchers want to see if it improves their quality of life and reduces flare-ups over a long time, compared to standard care.
France · Germany · Poland - RecruitingNA
Streamlined Treatment of Pulmonary Exacerbations in Pediatrics
This study looks at two ways to treat lung flare-ups (exacerbations) in children with Cystic Fibrosis. It compares immediate antibiotics to a 'watch and wait' approach to see which is safer and works better long-term, and if we can use fewer antibiotics.
United States · Canada - Recruiting
Trikafta Exercise Study in Cystic Fibrosis
This study looks at how a cystic fibrosis (CF) drug called Trikafta affects shortness of breath and exercise ability. Researchers want to see if Trikafta helps people with CF exercise more easily and feel less breathless, which could improve their overall health.
Canada - RecruitingPHASE2
Xenon-129 and Inert Fluorinated Gas Lung MRI: Study of Healthy Volunteers and Participants With Pulmonary Disease
This study uses special MRI scans with safe gases to look at lungs in people with cystic fibrosis and asthma, and healthy volunteers. The aim is to see how well these new scanning methods work and what they can tell us about lung health.
Canada - Active not recruitingPHASE2
Long-term Safety and Efficacy Study and Dose-Escalation Substudy of PF 06838435 in Individuals With Hemophilia B
This study looks at a new treatment called PF-06838435 for people with haemophilia B. It checks if the treatment is safe and works well over a long time. It also explores a higher dose for new participants.
United States · Australia · Canada - AuthorisedTherapeutic confirmatory (Phase III)
Evaluation of the efficacy of iloprost in the management of vaso-occlusive crises in adult patients with sickle cell: a multicentre, randomised, double-blind, placebo-controlled study _ PROSTASICKLE
This study is testing if a drug called iloprost can help people with sickle cell anaemia during painful crises. It aims to see if iloprost can reduce the need for strong painkillers. This is a big study hoping to find a better way to manage these crises.
France - Recruiting
Development and Validation of a Disease Specific PROM to Assess Abdominal Involvement in Patients With CF (CFAbd-Score)
Researchers are creating a new questionnaire to help people with Cystic Fibrosis (CF) describe their tummy troubles. This tool, called the CFAbd-Score, aims to better understand how CF affects the stomach and gut, from children to adults, to improve care.
Germany - Active not recruiting
A Long-term Study of ADYNOVI/ADYNOVATE in Participants With Haemophilia A
This study looks at the long-term effects of ADYNOVI/ADYNOVATE medicine for people with haemophilia A. Researchers want to see how it works and if there are any side effects when used in everyday life.
United States · Bulgaria · Croatia - RecruitingNA
High-flow Oxygen for Vaso-occlusive Pain Crisis
This study looks at whether a special way of giving oxygen, called high-flow nasal oxygen (HFNO), can help people with sickle cell disease who are having a pain crisis. We want to see if it reduces pain and stops serious lung problems.
France - RecruitingPHASE1, PHASE2
A Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping to Evaluate the Safety and Efficacy of ENTR-601-45
This study looks at a new medicine, ENTR-601-45, for boys aged 4-20 with Duchenne muscular dystrophy (DMD) where skipping exon 45 is possible. We want to see if it's safe, what side effects it might have, and if it could help. It involves regular clinic visits and infusions.
Belgium · Italy · Netherlands - Recruiting
Establishment of a Primary Epididymal Cell Model From Epididymal Samples to Study CFTR Gene Regulation
This study looks at cells from a part of the male reproductive system called the epididymis. Researchers want to understand how a specific gene, CFTR, works in these cells. This could help us learn more about male infertility and cystic fibrosis.
France - Recruiting
Treatment of Hemophilia A Patients With FVIII Inhibitors
This study looks at how doctors manage Haemophilia A in men who develop ‘inhibitors’ to their treatment. It observes different treatments, including a new medicine called emicizumab, to see how well they work and if they are safe over up to five years.
United States · Germany - Ongoing, recruitingTherapeutic confirmatory (Phase III)
A phase 3b open-label, multicenter study evaluating physical activity and joint health in previously treated patients ≥12 years of age with severe haemophilia A treated with intravenous recombinant coagulation factor VIII Fc-von Willebrand Factor-XTEN fusion protein (rFVIIIFc-VWF-XTEN; efanesoctocog alfa) for 24 months
This study is looking at a new treatment called efanesoctocog alfa for severe haemophilia A. It aims to see how it affects physical activity and joint health in patients aged 12 and over, comparing results over 24 months. It's a key step in understanding if this medicine helps people live more active lives.
Croatia · Norway · Italy - RecruitingPHASE2, PHASE3
AFFINITY DUCHENNE: RGX-202 Gene Therapy in Participants With Duchenne Muscular Dystrophy (DMD)
This study is testing a new gene therapy called RGX-202 for boys with Duchenne muscular dystrophy. It aims to see if it's safe and helps muscles work better by delivering a special protein that's missing.
United States · Canada - RecruitingPHASE3
A Research Study Looking at Long-term Treatment With Etavopivat in People With Sickle Cell Disease or Thalassaemia
This study is testing a new medicine, Etavopivat, for sickle cell disease and thalassaemia. It looks at how safe and effective the treatment is over a long period for people already benefiting from it in previous studies. The goal is to improve oxygen delivery in the body.
United States · Canada · Egypt - Recruiting
Lung Ultrasound in Pediatric Acute Chest Syndrome
This study looks at how lung ultrasound can help children with sickle cell disease who develop a serious lung problem called Acute Chest Syndrome (ACS). Researchers want to see if ultrasound scans can predict how long children might need help with breathing and how serious their condition is.
France - Recruiting
Retrospective Epidemiological Study of Patients in the National Cohort of the French TMA Center
This study looks back at records of over 1,200 patients in France who had a rare blood disorder called iTTP. It aims to understand how things like heart problems and specific treatments affect their long-term health and survival. It hopes to improve care for people with iTTP.
France - Recruiting
Longitudinal Observational Study on the Course of Cystic Fibrosis Lung Disease in Patients Following Newborn Screening
This study looks at how cystic fibrosis (CF) affects the lungs in babies and young children. Researchers want to understand when lung problems start and how they develop in children diagnosed early, as well as compare them to those diagnosed later.
Germany - 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 - Enrolling by invitation
A Study Following Males With Haemophilia A on Prophylaxis With Esperoct®
This study looks at how well Esperoct® works and if it has side effects for men and boys with haemophilia A. Participants will receive their usual treatment and share information about their health over several years.
Austria · Bulgaria · Croatia - RecruitingPHASE2
A Study to Evaluate Safety and Efficacy of Subcutaneous Administration of Anakinra in Patients With CF
This study is testing a medicine called anakinra for people aged 12 and over with cystic fibrosis (CF). Researchers want to see if it helps improve lung health and is safe to use. It's an early-stage study to understand its effects better.
Germany - RecruitingPHASE2
Safety, Efficacy, and Pharmacokinetics of CSL889 in Adults and Adolescents With Sickle Cell Disease During Vaso-Occlusive Crisis
This study is testing a new medicine called CSL889 for people with sickle cell disease who are having a pain crisis. We want to see if it's safe, helps pain go away faster, and how the body handles it. Some people will get CSL889, others a dummy medicine (placebo).
United States · Turkey (Türkiye) · United Kingdom - Not yet recruiting
Heart and Blood Vessels Health in People With Cystic Fibrosis
This study looks at the heart and blood vessels in people with Cystic Fibrosis (CF). We want to see how healthy they are and how new CF medicines might affect them over time. The goal is to understand heart risks better and find ways to prevent heart problems in people with CF.
United Kingdom - RecruitingPHASE4
Nuwiq Dosing and Outcomes In the ManagEment of Women/Girls With Haemophilia A Needing FVIII Treatment for Surgery
This study looks at how well Nuwiq, a treatment for hemophilia A, works to prevent bleeding in women and girls aged 12 and over who have hemophilia A and are having major surgery. It focuses on how safe and effective Nuwiq is in these situations.
United States · Finland · France - Active not recruitingPHASE1, PHASE2
A Phase 1/2 Study of VX-522 in Participants With Cystic Fibrosis (CF)
This study is testing a new medicine, VX-522, for adults with cystic fibrosis (CF) whose current treatments aren't effective. It aims to see if the medicine is safe, well-tolerated, and helpful for improving their condition. This is an important step in finding new ways to manage CF.
United States · Australia · Belgium - Recruiting
Sickle-cell Disease Registry of the GPOH
This study is gathering information on people with sickle cell disease in Germany, Austria, and Switzerland. It aims to understand how the disease affects people, how it's treated, and improve care, especially for newborns. This will help doctors better manage the condition.
Germany - Active not recruitingNA
Determinants of Daily Physical Activity Level in Patients With Cystic Fibrosis - Pilot Study Protocol
This study looks at why people with Cystic Fibrosis (CF) are more or less active. Participants will wear a small device for a week to measure their activity and fill out a questionnaire about their feelings and surroundings. This helps us understand how to encourage more activity.
France - RecruitingNA
Intact Cord Resuscitation in CDH
This study looks at how babies with a rare condition called Congenital Diaphragmatic Hernia (CDH) adapt at birth. Researchers are comparing immediate umbilical cord clamping to keeping the cord intact for a short time, to see if it helps these babies transition better.
France - Active not recruitingPHASE1, PHASE2
Study to Test the Safety and How Well Patients With Severe Hemophilia A Respond to Treatment With BAY 2599023 (DTX 201), a Drug Therapy That Delivers a Healthy Version of the Defective Factor VIII Gene Into the Nucleus of Liver Cells Using an Altered, Non-infectious Virus (AAV) as a "Shuttle"
This study is testing a new gene therapy called BAY 2599023 (DTX201) for men with severe haemophilia A. It aims to help their bodies make the missing clotting factor VIII by introducing a healthy gene, potentially reducing bleeding episodes.
United States · Bulgaria · France - RecruitingPHASE1
Pharmacokinetic Comparison of Efanesoctocog Alfa vs Other EHL-rFVIII Products in Participants With Severe Haemophilia A
This study is looking at a new medicine called efanesoctocog alfa for people with severe haemophilia A. It compares how long this new medicine stays in the body compared to two other similar medicines currently used. The goal is to see if the new medicine lasts longer.
Bulgaria · Germany · Italy - Recruiting
An Observational Cohort Study to Characterize the Effectiveness and Safety of HEMGENIX® in Patients With Hemophilia B
This study looks at how well a new gene therapy, HEMGENIX, works and if it's safe for people with haemophilia B in the long term. It also compares HEMGENIX to standard Factor IX treatment to understand its effects better.
United States · Austria · Denmark - RecruitingPHASE3
A Clinical Trial of Study Medicine (Marstacimab) in Pediatric Patients With Hemophilia A or Hemophilia B
This study is testing a new medicine, marstacimab, for children and teenagers aged 1 to 17 with haemophilia A or B. It aims to see if the medicine can safely and effectively reduce bleeding episodes when given as a weekly injection under the skin.
United States · Argentina · Australia - Active not recruitingPHASE3
Evaluation of VX-121/Tezacaftor/Deutivacaftor in Cystic Fibrosis (CF) Participants 1 Through 11 Years of Age
This study is testing a new medicine, VX-121/TEZ/D-IVA, for children aged 1 to 11 with cystic fibrosis. We want to see how safe and effective it is, how the body uses it, and if it helps improve their health.
United States · Australia · Canada - Recruiting
Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases
This study aims to find the missing genetic causes of rare diseases where the original tests didn't find an answer. It will look at existing genetic data and new samples from patients and their families to help improve diagnosis and potentially discover new ways to treat these conditions.
France