Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy36
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)29
Leading sponsors
- Assistance Publique - Hôpitaux de Paris57
- Mayo Clinic39
- Boston Children's Hospital38
- National Institute of Allergy and Infectious Diseases (NIAID)38
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Children's Hospital Medical Center, Cincinnati31
- Hospices Civils de Lyon29
- Children's Hospital of Philadelphia23
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
Where studies are running
- California324
- Maryland160
- Alabama133
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT02453542Recruiting
Testing how blood-clotting is managed in hemophilia with inhibitors
This study looks at different ways to help blood clot in people with hemophilia who have developed inhibitors (proteins that stop standard clotting treatments from working). It may help doctors choose the safest, most effective clotting approach for these situations.
Solna, Stockholm CountyAges 7 years+ - NCT06557733RecruitingPhase 2
Investigating TPST-1495 for Familial Adenomatous Polyposis
This trial tests a new drug, TPST-1495, to reduce the number of benign polyps in the small intestine for people with a condition called familial adenomatous polyposis (FAP). If you join, you will likely not know if you receive the drug or a placebo, to see if the drug is helpful.
Phoenix, ArizonaAges 18 years+ - NCT06563895RecruitingPhase 3
Testing acoramidis to prevent ATTR amyloidosis in gene carriers
This trial tests a daily pill called acoramidis to see if it can prevent ATTR amyloidosis in people who carry a gene mutation but have no symptoms yet. It aims to stop the disease before it starts.
La Jolla, CaliforniaAges 18–75 - NCT06564974Recruiting
Long-term safety study of Agamree for Duchenne muscular dystrophy
This study watches boys with Duchenne muscular dystrophy who are already taking Agamree (vamorolone) to see how safe it is over a long period. It helps doctors understand the medicine's effects over time.
Phoenix, ArizonaAges 2 years+ - NCT06565026RecruitingEarly Phase 1
CS-206 treatment for sickle cell disease patients
This trial tests CS-206, an experimental therapy for people with sickle cell disease. It aims to reduce severe complications like pain crises, acute chest syndrome, strokes, and other serious events. You may qualify if you have a specific genetic type of sickle cell disease and have experienced complications despite standard treatments.
Nanning, GuangxiAges 12–35 - NCT06549725Recruiting
Lipidica software for pancreatic cancer screening
This trial tests a software that analyzes fats (lipids) in your blood to find pancreatic cancer early. You may join if you have pancreatic cancer that can be removed with surgery, or if you are at very high risk due to family history or certain gene mutations.
Prague, CzechiaAges 18 years+ - NCT06565078Recruiting
Safety study of immune globulin for primary immunodeficiency
This study is a safety check for people with primary immunodeficiency who are already using a specific immune globulin treatment given under the skin. It looks at medical records to see if any side effects occurred.
Tokyo, TokyoAges Any age - NCT06559176Enrolling by invitationPhase 1/Phase 2
Gene editing trial for chronic granulomatous disease
This trial tests a new gene editing treatment called PM359 for people with a specific type of chronic granulomatous disease (CGD) caused by a delGT mutation in the NCF1 gene. The goal is to see if it's safe and helps fight infections and inflammation.
Los Angeles, CaliforniaAges 6 years+ - NCT06564389RecruitingPhase 1
First-in-human study of PF-07832837 in healthy adults and eczema patients
This trial is testing a new investigational medicine (PF-07832837) for safety in healthy adults and in people with moderate to severe atopic dermatitis (eczema). It is a first-in-human study, so it looks at how well the body tolerates the medicine.
Anaheim, CaliforniaAges 18–70 - NCT06562283Recruiting
Reproducibility of a fatigue test for spinal muscular atrophy
This study checks how consistent a fatigue test is for people with spinal muscular atrophy (SMA). It helps doctors better understand fatigue in SMA and may improve future care.
Saint-Etienne, FranceAges 6 years+ - NCT06566196Recruiting
Heart exercise testing for congenital heart disease
This study tests how well your heart pumps during exercise while you are undergoing a heart catheter procedure. It may help doctors better understand your heart function and guide your treatment.
Rochester, MinnesotaAges 18 years+ - NCT06555939Recruiting
Resilience program for teens and young adults with sickle cell disease
This study tests a program called PRISM that helps teens and young adults with sickle cell disease build resilience and manage stress, anxiety, or depression. You may be eligible if you have sickle cell disease and feel down or worried.
Boston, MassachusettsAges 8–25 - NCT06558994Recruiting
Surgery comparison for undescended testicles in children
This study compares two surgical methods for fixing undescended testicles that cannot be felt during a physical exam. The goal is to see which technique leads to better outcomes.
Asyut, EgyptAges Up to 12 years - NCT06555120Recruiting
Screening kids for inherited high cholesterol
This study checks children for a genetic condition that causes very high cholesterol from a young age. If found early, steps can be taken to lower heart disease risk later in life.
AmiensAges 2–18 - NCT06560463Recruiting
CGM and glucose test for cystic fibrosis related diabetes
This study tests if a continuous glucose monitor (CGM) along with a standard glucose drink test can better detect diabetes in people with cystic fibrosis. It is for adults who do not yet have diabetes and are generally healthy.
Milwaukee, WisconsinAges 18 years+ - NCT06553976Recruiting
Research network for hereditary spastic paraplegia
This trial aims to build a research network and gather information from people with two genetic types of hereditary spastic paraplegia (SPG4 and SPG5A). It will help doctors better understand these conditions and improve care.
Miami, FloridaAges Any age - NCT06560242Recruiting
Tracking early sound perception in Fragile X syndrome
This study uses safe brain monitoring (fNIRS and EEG) to see how infants with Fragile X syndrome process sounds compared to other infants. The goal is to find early signs of hearing or perception issues.
Cincinnati, OhioAges 6 months–2.2 years - NCT06555965Recruiting
STXBP1 and SYNGAP1 natural history study
This study follows people with STXBP1 or SYNGAP1 gene changes over time to learn more about how these conditions affect the body and mind. It does not test a treatment but helps researchers understand the natural course of the disorder.
Palo Alto, CaliforniaAges Any age - NCT06560736Recruiting
Anxiety help for teens with PKU
This study tests a brief therapy program designed to help teens with PKU manage anxiety or depression symptoms. It aims to see if this approach can prevent or treat these issues in this group.
Columbia, MissouriAges 10–17 - NCT06565572Enrolling by invitationEarly Phase 1
Antisense drug for PCARP disease caused by FLVCR1 mutation
This trial tests a new drug called an antisense oligonucleotide (a type of genetic medicine) for people with a specific form of inherited eye disease called PCARP, which is caused by changes in the FLVCR1 gene. The goal is to see if the drug can slow or stop vision loss.
Aurora, ColoradoAges Any age - NCT06354322Recruiting
Genetic study for unclassified autoinflammatory disease or AA amyloidosis
This study looks for genetic causes of hard-to-diagnose autoinflammatory diseases or a related condition called AA amyloidosis. It aims to find answers for people whose condition does not fit any known type, by studying their genes and medical history.
ParisAges 3–80 - NCT05963191Recruiting
Test camera bowel scan for early Lynch syndrome lesions
This study tests a special CAD-EYE system to help detect abnormal (potentially cancer-related) growths during colonoscopy in people with Lynch syndrome. It may improve how reliably clinicians find lesions early, when treatment can be easier.
ParisAges 18–90 - NCT06499363Recruiting
Treprostinil for pulmonary hypertension in newborns
This study collects information on how well a medicine called treprostinil works and how safe it is for newborn babies with pulmonary hypertension (high blood pressure in the lungs). It is for babies who have already received this treatment as part of their regular care.
BronAges Up to 10 months - NCT06546670RecruitingPhase 1/Phase 2
Study of ITU512 for sickle cell disease
This trial tests a new medicine called ITU512 in two groups: healthy volunteers and people with sickle cell disease. In the second part, researchers want to see if ITU512 can help manage sickle cell disease.
Birmingham, AlabamaAges 12–55
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.