Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,771
- Phase 2284
- Phase 1235
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis128
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease38
- Hemophilia A38
- Cystic Fibrosis (CF)37
- Cardiac Amyloidosis35
- Huntington Disease32
- Lynch Syndrome32
- Heart Failure31
- Retinitis Pigmentosa31
- Bronchopulmonary Dysplasia30
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)27
Leading sponsors
- Assistance Publique - Hôpitaux de Paris62
- Boston Children's Hospital42
- National Institute of Allergy and Infectious Diseases (NIAID)38
- Mayo Clinic37
- Children's Hospital Medical Center, Cincinnati33
- Hospices Civils de Lyon32
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Riphah International University26
- Massachusetts General Hospital23
- National Cancer Institute (NCI)23
Where studies are running
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT05809323Recruiting
Trial testing moderate exercise in teens with Marfan syndrome
This trial studies whether doing moderate exercise is safe and helpful for people with Marfan syndrome. It aims to see how exercise affects heart and health measures, like how the aorta and body respond over time.
Houston, TexasAges 10–25 - NCT05809310Recruiting
Stenting branches to improve blood flow after certain heart repairs
This study looks at whether placing a small tube (stent) in a branch pulmonary artery can improve blood flow and heart function after specific childhood heart surgeries. It is meant for people who have d-TGA after ASO, or have ToF or TA, and need a branch PA intervention.
AmsterdamAges 8 years+ - NCT05809635Recruiting
Study for BEST1-related macular eye disease
This trial is studying people with BEST1-associated vitelliform macular dystrophy, a genetic eye condition affecting central vision. It will involve several eye-related study visits over about three years, aiming to better understand the condition and how it is managed.
New York, New YorkAges Any age - NCT05809856Recruiting
Check if a patient’s own valve tissue can be safely used
This study tests whether a new type of heart valve made from your own tissue (an “autologous” valve) can be placed through a catheter safely in adults with leaking and pressure-related problems in the lung heart valve area. If it works well, it could offer a safer option for people who need treatment for pulmonary valve problems.
Berlin, State of BerlinAges 18–80 - NCT05810181Recruiting
Interviews to improve choices about gene therapy for rare diseases
This study uses one-on-one interviews to learn what families and clinicians need to make decisions about gene therapy for rare diseases. The goal is to create or improve decision tools that make gene therapy information easier to understand and act on.
Memphis, TennesseeAges 8 years+ - NCT05813678Recruiting
Long-term safety monitoring for Palynziq in PKU
This study tracks the long-term safety of Palynziq (pegvaliase) in people with PKU as they take the medicine over time. It may help you and other patients understand long-term side effects and whether Palynziq stays safe.
Aurora, ColoradoAges Any age - NCT05818319Recruiting
Tracking kidney urine effects after a short pause in CF therapy
This study checks how a common cystic fibrosis (CF) medicine affects urine markers after briefly stopping it and then restarting. The goal is to better understand whether the treatment shift changes kidney-related signals in people with CF.
Aarhus C, Central JutlandAges 18 years+ - NCT05819463Recruiting
Study care for moderate to severe atopic dermatitis
This trial looks at treatment and medical care for teens and adults with moderate to severe atopic dermatitis (eczema). It may help by testing ways to manage symptoms better based on severity and current treatment needs.
BaselAges 12 years+ - NCT05821972RecruitingPhase 4
Breathing-mist medicines for cleft palate surgery pain control
This trial tests whether a breathing mist of two medicines (dexmedetomidine plus ketamine) works better than dexmedetomidine alone during cleft palate repair surgery. It may help improve comfort and safety around anesthesia for eligible patients.
AsyutAges 1–4 - NCT05822908RecruitingPhase 1/Phase 2
Study drug VO659 for SCA1, SCA3, and Huntington disease
This early-phase study tests whether VO659 is safe and how the body processes it in people with certain genetic movement disorders (SCA1, SCA3, or Huntington disease). It may help researchers learn the right dose and whether the drug can be given safely.
CopenhagenAges 25–60 - NCT05825131Recruiting
Natural history study for Sanfilippo type C disease
This study follows people with Sanfilippo syndrome type C to better understand how the disease changes over time. It does not appear to test a new medicine; instead, it collects health and development information that can help future treatments.
Dallas, TexasAges 1 year+ - NCT05825170Recruiting
Hyaluronic acid lip filler for lip deformity after cleft surgery
This trial tests a hyaluronic acid filler (placed in the lips) to improve lip shape in people who had cleft lip and palate surgery. It looks at how well the filler works and how safe it is for your lips and surrounding skin.
Lille, NordAges 18 years+ - NCT05829668Recruiting
Behavior plan study for children with Cornelia de Lange syndrome
This study tests a structured behavior assessment and treatment program for children with Cornelia de Lange syndrome who have challenging behaviors. It may help reduce self-injury, aggression, and disruptive behavior through a plan families can carry out.
Baltimore, MarylandAges 3–15 - NCT05832580RecruitingPhase 3
Preventing calcium buildup in skin, eyes, and blood vessels
This Phase 3 study tests a medicine to help prevent abnormal calcium (called ectopic mineralization) from building up in people with pseudoxanthoma elasticum (PXE). It aims to slow or reduce new damage over time.
UtrechtAges 18–50 - NCT05836259RecruitingPhase 1/Phase 2
TN-201 for heart symptoms from MYBPC3 heart disease
This early trial tests TN-201 to see how safe it is and how well it works to reduce symptoms in adults with MYBPC3-related hypertrophic cardiomyopathy. It’s designed to learn safe dosing, and you may be eligible if you have specific genetic heart changes and ongoing symptoms.
La Jolla, CaliforniaAges 18–75 - NCT05838079Recruiting
Baby heart study for families affected by diabetes
This study looks at how diabetes during pregnancy affects children’s or babies’ heart health over time. It may help researchers understand risks early, especially for families with a diabetes history during pregnancy.
Copenhagen ØAges 1 day–99 years - NCT05838235Recruiting
Exercise program for kids with Marfan syndrome
This trial studies an adapted physical activity (exercise) program to support effort rehabilitation in children and teens with Marfan syndrome. It may help safely improve activity and fitness while monitoring heart-related risks.
ToulouseAges 7–17 - NCT05841628Recruiting
Testing a 532-nanometer laser for port wine stain comfort
This study tests how tolerable (comfortable and safe) a specific 532-nanometer laser treatment is for people with non-facial port wine stains. If you join, you’ll get laser sessions and have skin photos taken, while avoiding other treatments on the same area.
Boston, MassachusettsAges 18–75 - NCT05843552Recruiting
Blood test using small vesicles in Gaucher disease
This study looks for tiny particles in blood (called extracellular vesicles) that may help identify Gaucher disease and could guide future treatments. It also studies people who have Gaucher gene carrier status but do not have the disease, using careful genetic testing.
Minneapolis, MinnesotaAges 18–80 - NCT05843851Recruiting
Newborn screening for rare cystinosis and hyperoxaluria
This study offers genetic screening to newborns to look for two rare metabolic conditions. It helps doctors find these conditions earlier, so treatment can start sooner if needed.
Hanover, Lower SaxonyAges 1 day–3 days - NCT05845723RecruitingPhase 2
Study drugs for blood-vessel Behçet’s to reduce inflammation
This Phase 2 trial tests tocilizumab and tofacitinib to see if they can better control vascular (blood-vessel) Behçet’s syndrome. It may help by lowering inflammation and reducing complications from aneurysms in the aorta or peripheral arteries.
Beijing, Beijing MunicipalityAges 18–65 - NCT05848271Recruiting
Natural history study for people with HPDL gene changes
This study follows people who have an HPDL gene change to better understand how symptoms and health progress over time. It may help clinicians learn more about the condition and plan future treatments.
San Diego, CaliforniaAges Any age - NCT05848310Recruiting
Blood test before surgery to predict biliary atresia outcome
This study looks at a specific pre-surgery blood marker called FGF19 (and related liver blood tests) in children with biliary atresia. The goal is to see whether the blood results before surgery can help predict how well children recover after surgery.
Shanghai, Shanghai MunicipalityAges Any age - NCT05849025Recruiting
MRI heart study using blood-pressure and kidney checks
This study adds an MRI and other measurements to a heart registry to better understand heart function. You might benefit by getting detailed heart and kidney measurements, but you must meet safety and eligibility rules (like blood pressure, BMI, and being off heart medicines).
Rochester, MinnesotaAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,764 we cover in this area in total.
- What does “Genetic & congenital” cover here?
- Inherited and congenital conditions present from birth or written into the genes. We group each study into genetic & congenital based on the conditions it studies, so you can scan the whole therapeutic area at once and drill into a specific condition.
- How do I find a genetic & congenital trial near me?
- Use the search to filter genetic & congenital studies by location and eligibility. Every Clin2 trial page explains the criteria in plain English and offers a short, optional pre-screen for a fit read — the study team makes the final decision.
Other specialties
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov; specialty groupings are derived from each study’s conditions. Talk with your doctor about whether a specific trial is right for you.