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
- NCT06365788RecruitingPhase 2
Bicalutamide and Abemaciclib for AR-positive Triple-negative Breast Cancer
This trial tests a combination of two oral drugs—bicalutamide and abemaciclib—for people with a specific type of advanced triple-negative breast cancer that grows in response to androgen hormones (AR-positive). The goal is to see if this treatment can shrink tumors or slow disease progression.
AntwerpAges 18 years+ - NCT06374238Recruiting
Peer support for young people with sickle cell pain
This study tests whether having a peer mentor who also has sickle cell disease can help young people manage chronic pain. You would use a mobile app to connect with your mentor and track your pain.
Mobile, AlabamaAges 16–39 - NCT06367192Recruiting
School Readiness Program for Preschoolers with Sickle Cell
This study tests a program to help preschoolers with sickle cell disease get ready for school. It looks at whether a special learning program can help with skills like paying attention and getting along with others.
Memphis, TennesseeAges 3.5 years–6.5 years - NCT06373289Recruiting
Blood pressure in lung arteries and oxygen levels in preemies
This study tests whether changing oxygen targets in preterm infants with high blood pressure in the lungs (pulmonary hypertension) helps their heart and lungs work better. It may help doctors find the best oxygen levels for these babies.
Birmingham, AlabamaAges 1 month–5 months - NCT06369974Enrolling by invitationPhase 1/Phase 2
Experimental ASO treatment for TUBB4A-related leukodystrophy
This trial tests a single patient's response to an experimental genetic treatment (called an ASO) for a rare brain disease caused by changes in the TUBB4A gene. The goal is to see if the treatment can improve symptoms related to the condition H-ABC.
Boston, MassachusettsAges 4 years+ - NCT06363526Enrolling by invitation
Digital breathing exercises for children with muscular dystrophy
This trial tests a 5-week digital breathing exercise program for children with Duchenne or Becker muscular dystrophy. It aims to improve lung function using simple exercises done at home.
MálagaAges 5–20 - NCT04936854RecruitingPhase 2
Sirolimus or steroid drops for active Graves eye disease
This Phase 2 study compares sirolimus versus corticosteroids to treat active thyroid eye disease. It aims to see which treatment works better to calm eye inflammation and improve symptoms, without needing urgent eye surgery.
Bergen, HordalandAges 18–80 - NCT06349473RecruitingPhase 1
Study of SR604 in healthy people and those with bleeding disorders
This study tests a new drug called SR604 to see if it is safe and how it works in the body. It is for healthy men and for people with hemophilia A, hemophilia B, or factor VII deficiency who have frequent bleeding or are on preventive treatment.
Glendale, CaliforniaAges 18–60 - NCT06342999Enrolling by invitation
Fetal heart valve procedure for underdeveloped left heart
This trial tests a procedure called fetal aortic valvuloplasty (opening the baby's heart valve while still in the womb) to help the left side of the heart grow better. It's for pregnant women whose babies have a narrow aortic valve and signs that the left heart may not develop fully.
Rochester, MinnesotaAges Up to 45 years - NCT06339593RecruitingEarly Phase 1
Using MRI to Monitor CF Lung Health
This study uses MRI scans to monitor lung health in teens and young adults with cystic fibrosis who are taking Trikafta. It aims to find better ways to track how the disease affects the lungs over time.
Cincinnati, OhioAges 12–21 - NCT06340685RecruitingPhase 1
Triheptanoin for children with PDC deficiency
This trial tests an oil called triheptanoin for children with a rare genetic condition (PDCD) that affects how their bodies use energy. The study aims to see if triheptanoin can help improve their health.
Pittsburgh, PennsylvaniaAges 1–17 - NCT06338319Enrolling by invitation
Book sharing study for toddlers with cleft palate
This study tests whether a book-sharing program can help toddlers (20-32 months) who had cleft palate repair improve their language and communication skills. Families will use a smartphone or tablet to record and send videos.
Seattle, WashingtonAges 1.7 years–2.7 years - NCT06357182RecruitingPhase 1
New drug combo for AML patients who can't have strong chemo
This trial tests a new drug combination (iadademstat plus azacitidine and venetoclax) for people with newly diagnosed AML who cannot have or do not want standard intensive chemotherapy. The goal is to see if adding iadademstat makes the treatment work better.
Portland, OregonAges 18 years+ - NCT06358638RecruitingPhase 2
Sickle cell transplant using a gentler approach for patients with donor antibodies
This trial is testing a new, gentler type of bone marrow transplant for children and young adults with sickle cell disease who have a healthy sibling donor with a mismatched blood type or who have antibodies against their donor's red blood cells. The goal is to replace the faulty bone marrow with healthy donor cells, with fewer side effects than traditional transplants.
Washington D.C., District of ColumbiaAges 2–25 - NCT06325709RecruitingPhase 1/Phase 2
Gene editing trial for X-linked chronic granulomatous disease
This trial tests a new gene-editing treatment for men with a specific genetic mutation that causes X-linked chronic granulomatous disease (CGD). The goal is to fix the faulty gene in your own blood stem cells to help your immune system fight infections better.
Bethesda, MarylandAges 18–75 - NCT06328608RecruitingPhase 2/Phase 3
PRX-102 for children with Fabry disease
This study tests a new enzyme replacement therapy called PRX-102 for children with Fabry disease. It aims to see if the drug is safe and helps manage symptoms like pain and eye or skin changes.
Phoenix, ArizonaAges 2–17 - NCT06328712RecruitingPhase 1/Phase 2
Cell therapy for Charcot-Marie-Tooth type 1A (CMT1A)
This trial tests a new cell therapy called EN001 for people with CMT1A. It aims to see if the treatment is safe and can help with nerve function and muscle weakness.
GyeongjuAges 19 years+ - NCT06328764Enrolling by invitationEarly Phase 1
CS-101 for patients with beta-thalassemia
This trial tests a new treatment called CS-101 for people with beta-thalassemia who need regular blood transfusions. It aims to see if CS-101 can help reduce transfusion needs.
Nanning, GuangxiAges 6–35 - NCT06332807RecruitingPhase 1/Phase 2
Gene therapy trial for classic PKU
This trial tests a one-time gene therapy called NGGT002 for adults with classic PKU who cannot take or do not respond well to current treatments. The goal is to see if it can safely lower blood phenylalanine levels.
Orange, CaliforniaAges 18–55 - NCT06336044Recruiting
Facial filler trial with hyaluronic acid and collagen
This trial tests a new injectable filler made from hyaluronic acid and recombinant collagen to smooth wrinkles and add volume. It may help people who want a non-surgical option for facial rejuvenation.
RomaAges 18–70 - NCT06330441Recruiting
Pancreatic cancer screening for high-risk groups
This study screens people at high risk for pancreatic cancer using imaging tests. It aims to catch cancer early in those with certain genetic conditions or strong family history.
BrnoAges 18 years+ - NCT06335862Enrolling by invitation
Surgery to stop windpipe collapse in babies with esophageal atresia
This trial tests a surgery called posterior tracheopexy to prevent the windpipe from collapsing in babies with esophageal atresia and tracheomalacia. It may help your child breathe more easily.
RotterdamAges 8 months+ - NCT06335524Recruiting
Helping preterm babies learn: a parent-baby program
This study tests a program to help parents support their preterm baby's early thinking and learning skills. It may help your baby's brain development during this important time.
Birmingham, AlabamaAges 1 week–4 months - NCT06325644Recruiting
Ketogenic diet for polycystic kidney disease
This study tests whether a ketogenic diet can slow the progression of polycystic kidney disease in adults who are at risk for rapid decline. You'll follow a carefully planned low-carb, high-fat diet to see if it helps protect your kidneys.
Columbus, OhioAges 18–65
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.