Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- 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
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT06214507Recruiting
Danon disease natural history study
This study follows people with Danon disease over time to better understand how the condition progresses. It may help guide future treatments.
Phoenix, ArizonaAges 8 years+ - NCT06078553Recruiting
Natural history study of congenital myasthenic syndromes (CMS)
This study follows people with congenital myasthenic syndrome (CMS) caused by changes in certain genes (DOK7, MUSK, AGRN, or LRP4) over time. It does not test any new drug, but helps researchers understand how the condition changes and how to plan future treatments.
Sacramento, CaliforniaAges 2 years+ - NCT07718971Enrolling by invitation
Whole-genome sequencing for unexplained medical conditions
This study uses whole-genome sequencing (a complete read of your DNA) to try to find a genetic cause for unexplained medical conditions. If you have a puzzling illness without a clear diagnosis, this test might give you answers.
Seattle, WashingtonAges 18–50 - NCT05031507Recruiting
Study of bone disorders and inherited genetic factors
This study looks at bone (skeletal) disorders to better understand possible genetic causes, especially when phosphate levels or bone growth are affected. You may join either if you (or your child) has a bone disorder, or if you’re an unaffected family member who might help compare results.
Bethesda, MarylandAges 2 months–100 years - NCT03102554Enrolling by invitation
Study genes in sex development differences and hypospadias
This study looks for genetic causes of differences in how a baby or child’s sex organs develop, including hypospadias. You may be able to join if doctors can’t find a reason using standard testing.
Boston, MassachusettsAges Any age - NCT07285005RecruitingPhase 3
Study of an oral drug for venous, lymphatic, and certain overgrowth syndromes
This trial tests whether the study drug KP-001 can help reduce symptoms like pain, fatigue, or bleeding caused by certain vascular malformations (abnormal blood vessel growths) that can't be surgically removed or haven't responded to other treatments. It's for people age 2 and older with specific conditions such as common venous malformations, lymphatic malformations, or KTS/CLOVES syndrome.
Charleston, South CarolinaAges 2 years+ - NCT07347249RecruitingPhase 2
New drug for congenital Factor VII deficiency
This study tests a new drug called Sutacimig for people with congenital Factor VII deficiency, a rare bleeding disorder. The drug is designed to help prevent or control bleeding episodes.
LondonAges 18–60 - NCT06764485RecruitingPhase 3
Comparing a new drug to standard therapy for advanced prostate cancer
This trial tests a new medicine (BMS-986365) against the doctor's choice of standard therapy for men with metastatic castration-resistant prostate cancer. It aims to see which treatment works better and is safer.
Birmingham, AlabamaAges 18 years+ - NCT01778504Recruiting
Study of childhood behavioral and psychiatric disorders
This study looks at brain, behavior, and genetic factors in people with neuropsychiatric or developmental disorders, as well as their biological relatives. It may help researchers better understand these conditions and find new ways to diagnose or treat them.
Bethesda, MarylandAges 4 weeks–99 years - NCT07614152RecruitingPhase 3
Growth hormone treatment for girls with Turner syndrome
This study tests whether a new long-acting growth hormone injection helps girls with Turner syndrome grow taller. Turner syndrome is a genetic condition that affects growth, and this trial will see if this treatment is safe and effective.
AnyangAges 2–12 - NCT03533985Recruiting
Music therapy for newborns in the NICU with withdrawal symptoms
This study looks at whether music therapy can help infants who are born with neonatal abstinence syndrome (withdrawal symptoms after birth). It may support comfort, bonding, or overall newborn well-being while they’re in the NICU.
New Orleans, LouisianaAges 6 months+ - NCT06884423Recruiting
Balloon treatment for severe diaphragmatic hernia in unborn babies
This trial tests if placing a temporary balloon in the baby's windpipe before birth can improve survival for babies with a severe form of a diaphragmatic hernia. It is for pregnant women carrying a single baby with a left-sided hernia that is more severe or a right-sided hernia, and whose liver is up in the chest.
Philadelphia, PennsylvaniaAges 18 years+ - NCT04272515Recruiting
Learn from tissue or samples from biliary atresia patients
This study looks to better understand biliary atresia by studying patient information and/or samples. It may help researchers learn why the condition happens and how to improve care.
Paris, DeAges Any age - NCT07720570Enrolling by invitation
Bleomycin electrosclerotherapy for slow-flow vascular malformations
This trial tests a treatment called bleomycin electrosclerotherapy for people with slow-flow vascular malformations (abnormal blood vessels that do not flow quickly). The goal is to see if this treatment works well and is safe for these conditions.
Copenhagen, Capital Region of DenmarkAges 2 years+ - NCT06664866Enrolling by invitation
AI Screening for Heart Amyloidosis
This trial tests an AI program that looks at your heart ultrasound (echocardiogram) to find possible signs of cardiac amyloidosis early. It helps doctors decide if more testing is needed.
Los Angeles, CaliforniaAges 22 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 - NCT07277582RecruitingPhase 2/Phase 3
Study of THRV-1268 for long QT syndrome type 2
This trial tests an investigational drug called THRV-1268 in people with a specific genetic form of long QT syndrome (type 2). The goal is to see if it can safely help control the heart's electrical activity and reduce the risk of dangerous heart rhythms.
Scottsdale, ArizonaAges 15 years+ - NCT07106359Recruiting
Learning about Lynch syndrome genetic services for families
This study tests a program to help families talk about genetic services for Lynch syndrome. It aims to support people who may be at risk but haven't yet had genetic counseling or testing.
Birmingham, AlabamaAges 18 years+ - NCT07476183RecruitingPhase 1
Testing APR-2020 for RPS19-deficient Diamond-Blackfan Anemia
This trial is testing a new treatment called APR-2020 for children and young adults with a specific type of Diamond-Blackfan Anemia (caused by a change in the RPS19 gene). The goal is to see if this treatment is safe, tolerable, and can help reduce the need for blood transfusions.
Stanford, CaliforniaAges 2–25 - NCT07717346RecruitingEarly Phase 1
KB111 topical gel for Hailey-Hailey disease
This trial tests a new topical gel called KB111 for treating Hailey-Hailey disease, a genetic skin condition that causes painful blisters. The study will check if the gel is safe and helps reduce symptoms.
Miami, FloridaAges 12 years+ - NCT07716488Recruiting
Screening for high cholesterol in children with chronic conditions
This study screens children and teens with certain chronic conditions (like heart defects or inflammatory bowel disease) for early signs of high cholesterol or other lipid problems. The goal is to find and manage these risks sooner.
JenaAges 6–18 - NCT07716397Recruiting
MRI study for thyroid eye disease diagnosis and care
This study uses MRI scans of the eye area to better understand and classify thyroid eye disease (TED). It aims to help doctors predict outcomes and personalize treatment. You may be eligible if you have stable TED or are a healthy volunteer.
Shanghai, Huangpu DistrictAges 18–75 - NCT04798690Recruiting
Long-term growth injections for short children
This trial studies the long-term safety and effectiveness of Growtropin®-II, a growth hormone–type injection, in children who are short due to certain causes. It may help your child’s growth over time, while also closely tracking side effects.
Seoul, Seodaemun-guAges 2 years+ - NCT07560306RecruitingPhase 3
New Heart Scan to Detect Blood Clots in Amyloid Heart Disease
This study tests a new type of imaging scan ([64Cu]FBP8 PET) to detect blood clots that may form in the heart's left atrial appendage (a small pouch in the heart) in patients with amyloid cardiomyopathy (a disease where abnormal protein builds up in heart muscle) who also have irregular heartbeat. The scan may help doctors catch clots earlier and prevent strokes.
Boston, MassachusettsAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.