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 applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- 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
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT05870007Enrolling by invitationPhase 2
Atorvastatin and alkalizing treatment for autosomal dominant PKD
This Phase 2 study tests whether atorvastatin plus an “alkalizing” treatment (sodium bicarbonate) can slow or improve disease effects in people with autosomal dominant polycystic kidney disease (ADPKD). It specifically targets metabolic acidosis (when the body becomes “too acidic”), which may worsen kidney health.
New Taipei CityAges 18 years+ - NCT05844449Enrolling by invitationPhase 3
Check long-term safety and effectiveness of CF medicines
This Phase 3 study looks at how well and how safely Vanzacaftor/Tezacaftor/Deutivacaftor works over the long term in people with cystic fibrosis who already took the study medicine before. It may help confirm the best long-term plan and spot important safety issues.
Orange, CaliforniaAges 1 year+ - NCT05775224Enrolling by invitation
Join a research data hub for sickle cell or multiple myeloma
This study builds a database of people with sickle cell disease and/or active multiple myeloma (diagnosed or treated in recent years). It may help researchers learn how these illnesses behave and support better future studies or treatments.
Washington D.C., District of ColumbiaAges Any age - NCT05768386Enrolling by invitation
Long-term follow-up for severe hemophilia A after BMN 270 study
This study checks how people with severe hemophilia A are doing over time after joining a previous BioMarin study of BMN 270. It helps researchers understand long-term safety and outcomes and may support your ongoing care plan.
Los Angeles, CaliforniaAges 18 years+ - NCT05750667Enrolling by invitation
Family screening for familial high cholesterol
This trial is about helping families with familial hypercholesterolemia (a genetic condition that causes very high cholesterol) get screened. It tests a way to reach close relatives so they can learn their risk and consider next steps.
Philadelphia, PennsylvaniaAges 18 years+ - NCT05735483Enrolling by invitationPhase 3
Long-term lebrikizumab study for moderate to severe eczema
This Phase 3 trial studies whether lebrikizumab is safe and continues to work over the long term for children and teens with moderate-to-severe atopic dermatitis (eczema). It’s meant for people who already finished a related earlier study and can safely continue.
Birmingham, AlabamaAges 6 months–18 years - NCT05727852Enrolling by invitation
Breath and heart tests to study lung disease stiffness
This study uses breath analysis and heart/electrical heart testing to look at how stiff the arteries are in people with long-term lung conditions. It may help researchers better understand lung disease effects on the cardiovascular system.
MoscowAges 18 years+ - NCT05715957Enrolling by invitation
Follow-up study for women who carry a DMD gene change
This study follows women who have a confirmed DMD gene mutation (a genetic change related to Duchenne/Becker muscular dystrophy) to learn more about health and muscle-related measurements. Depending on the part of the study, you may be asked to take part in MRI or other assessments.
CopenhagenAges 18 years+ - NCT05686837Enrolling by invitation
Study of how lung bacteria spreads in people with cystic fibrosis
This trial follows people with cystic fibrosis to better understand how “nontuberculous mycobacteria” (a type of lung germ) spreads between healthcare visits and care settings. It may help improve future prevention and monitoring strategies for CF patients who have had these bacteria.
Denver, ColoradoAges 1 month–99 years - NCT05614531Enrolling by invitationPhase 1/Phase 2
Safety and benefit study of EXG001-307 for baby spinal muscular atrophy
This Phase 1/2 study tests whether EXG001-307 is safe and may improve health in babies with spinal muscular atrophy (SMA) type 1. It mainly looks at safety first, and whether the treatment can help the body work better over time.
Shanghai, Shanghai MunicipalityAges 1 day–6 months - NCT05594992Enrolling by invitationPhase 3
Study extension of JR-141 for long-term Hunter syndrome safety
This is a follow-up study for people who already took JR-141 in an earlier trial for Hunter syndrome (MPS II). It checks how well the treatment works over the long term and monitors long-term safety.
Oakland, CaliforniaAges Any age - NCT05531630Enrolling by invitation
Xylitol versus saline rinses for sinus symptoms in adults with CF
This study compares two kinds of nasal rinse packets—xylitol versus plain saline—to see which better reduces sinus symptoms. It may help adults with cystic fibrosis and long-term sinus inflammation feel better with routine, at-home nasal care.
LeuvenAges 18 years+ - NCT05528796Enrolling by invitation
Finding causes of non-immune fluid buildup in babies
This study looks for the underlying cause of “non-immune hydrops fetalis,” a serious condition where a baby has abnormal fluid buildup. It focuses on families whose usual genetic tests didn’t find an answer (or weren’t completed before birth).
San Francisco, CaliforniaAges 18–60 - NCT05492799Enrolling by invitationPhase 4
Study of AX 250 for MPS IIIB in children
This Phase 4 trial studies how safe, tolerable, and helpful ICV AX 250 is for people with MPS IIIB. It is for participants who already finished a prior AX 250 study and meet specific health and eligibility checks.
Oakland, CaliforniaAges Any age - NCT05462600Enrolling by invitation
Breathing monitoring test in non-smokers
This study measures how you breathe and how well oxygen and carbon dioxide move in and out of your lungs. It’s mainly a monitoring study to help researchers understand breathing patterns during a breathing test.
La Jolla, CaliforniaAges 18 years+ - NCT05404503Enrolling by invitation
Check how often bile-duct cancer happens in choledochal cysts
This study looks at how frequently cholangiocarcinoma (bile-duct cancer) occurs in people with choledochal cysts (a swelling of bile ducts). It mainly uses existing imaging records to understand risk in a hospital population.
HuelvaAges Any age - NCT05368064Enrolling by invitation
Study of cleidocranial dysplasia care from symptoms and genetics
This study looks at cleidocranial dysplasia (CCD) using a person’s symptoms and/or genetic findings to better understand what needs care and support. It may help teams improve how CCD is recognized and managed over time.
Baltimore, MarylandAges Any age - NCT05368038Enrolling by invitation
Newborn screening program for babies up to 4 weeks old
This trial tests a flexible newborn screening process that looks for certain conditions early in life. It may help by catching problems sooner, when treatment can be started earlier.
Brooklyn, New YorkAges Up to 4 weeks - NCT05308927Enrolling by invitation
Registry for children with Noonan syndrome on growth hormone
This trial is a real-world registry that collects information about children with Noonan syndrome who are treated with Norditropin (a growth hormone). It helps researchers understand how these children do over time in routine care.
AngersAges Any age - NCT05301361Enrolling by invitationPhase 1
Test of brain testing during stimulant treatment for ADHD
This trial checks whether a “NIH Toolbox” set of child-friendly tests can detect changes when stimulant medicine is used for ADHD. It may help doctors better measure how well stimulant treatment is working in people with intellectual disability.
Sacramento, CaliforniaAges 6–24 - NCT05284513Enrolling by invitation
Care team study for families with high cholesterol
This study tests a “reach everyone” approach in primary care clinics to improve care for people with familial hypercholesterolemia (families with very high cholesterol). It may help families get recognized sooner and get the right follow-up.
Multiple Locations, PennsylvaniaAges 26 years+ - NCT05238909Enrolling by invitation
Tracking tumor burden in people with NF1
This study looks for better ways to measure how much tumor activity people with neurofibromatosis type 1 (NF1) have over time. The goal is to develop “biomarkers,” which are test results that may help doctors track disease more easily.
Chicago, IllinoisAges Any age - NCT05158049Enrolling by invitation
Study of bionic eye outcomes over time
This study follows people who already have an implanted bionic eye device to see how they do over time. It may help researchers understand what to expect day to day and guide future care.
Melbourne E., VictoriaAges Any age - NCT05146830Enrolling by invitation
Long-term follow-up for people previously treated for cystinosis
This study checks how people with cystinosis are doing long-term after finishing an earlier study medicine called CTNS-RD-04. It may help researchers understand the lasting effects and safety of that treatment over time.
La Jolla, CaliforniaAges 14–50
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 5,795 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.