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
- NCT06298630Recruiting
Long-term study of BRL-101 for transfusion-dependent beta-thalassemia
This study follows patients who have already been treated with BRL-101 for transfusion-dependent beta-thalassemia. Its goal is to track long-term outcomes and safety.
Guangzhou, GuangdongAges 3–35 - NCT06907849Enrolling by invitationPhase 2
Imaging amyloid in spinal stenosis and carpal tunnel
This trial tests a special scan that uses a radioactive tracer to look for amyloid protein deposits in people who have had surgery for lumbar spinal stenosis (narrowing of the spine in the lower back) or carpal tunnel syndrome. The goal is to see if the scan can detect these deposits, which may be linked to ongoing orthopedic issues.
Knoxville, TennesseeAges 60 years+ - NCT02890342Recruiting
Studying Propionic Acidemia, gut bacteria, and body chemistry over time
This study follows people with propionic acidemia to better understand how the body, diet, gut bacteria, and blood chemistry change over time. It may help researchers learn more about the condition and how pregnancy, transplant, and daily life affect health.
Bethesda, MarylandAges 1 month–100 years - NCT07172971RecruitingPhase 1
SGLT2i drug for heart health in Duchenne muscular dystrophy
This trial tests if an SGLT2i medication can help protect heart function in people with Duchenne muscular dystrophy (DMD). The drug is already approved for other conditions, and researchers want to see if it can slow or prevent heart muscle damage.
Nashville, TennesseeAges 8–18 - NCT05396105Enrolling by invitationPhase 2/Phase 3
Oral PHA-022121 extension for hereditary angioedema attacks
This study is an extension trial of an oral medicine (PHA-022121) for treating acute attacks in people with hereditary angioedema (HAE), especially HAE type III (HAE-nC1INH). It checks whether continuing this oral treatment can safely help manage attacks after you’ve taken it before.
Birmingham, AlabamaAges 12 years+ - NCT06096675Recruiting
Physical activity study for cardiac amyloidosis patients
This study tests whether a 12-week supervised exercise program is safe and helpful for people with cardiac amyloidosis and heart failure. It aims to see if regular exercise can improve how you feel and function.
Charlotte, North CarolinaAges 18 years+ - NCT05492266Recruiting
Breathing muscle training for nasal speech in children
This trial tests whether strengthening the muscles you use to breathe out can help children ages 5–17 who have too much nasal sound in their speech. If it works, it could reduce the need for surgery.
Pittsburgh, PennsylvaniaAges 5–17 - NCT07282847RecruitingPhase 1/Phase 2
Gene therapy for adults with Pompe disease
This study tests a one-time gene therapy (AB-1009) for adults with late-onset Pompe disease. It aims to see if the treatment is safe and improves muscle and breathing function.
Phoenix, ArizonaAges 18–65 - NCT07713433Recruiting
Antibiotics versus none for pediatric colorectal surgery
This trial tests whether giving oral antibiotics before surgery is better than giving no antibiotics for children who are having their colostomy closed or a pull-through procedure. It aims to reduce infections and improve recovery in children with conditions like anorectal malformation or Hirschsprung's disease.
Lahore, Punjab ProvinceAges 1–15 - NCT07715617Recruiting
Creating a prediction score for lung transplant or death in Alpha-1 Antitrypsin Deficiency
This study is creating a simple scoring system to predict who with Alpha-1 Antitrypsin Deficiency-related emphysema might need a lung transplant or die from the disease. Your medical records from 2010–2025 will help build this tool, with no extra tests or visits required.
BronAges 18 years+ - 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 - NCT07088991Recruiting
Study of adults with NF1 and plexiform neurofibromas in Russia
This study is collecting information about adults in Russia with Neurofibromatosis type 1 who have symptomatic plexiform neurofibromas and have not yet been treated with a MEK inhibitor. It aims to better understand the condition and its treatment in real-world settings.
ArkhangelskAges Any age - NCT07398508RecruitingPhase 1/Phase 2
Northera for dizziness and diarrhea in Menkes disease survivors
This trial tests if the drug Northera (droxidopa) can help children with Menkes disease who have dizziness when standing or chronic diarrhea. It aims to improve these symptoms by supporting blood pressure and bowel function.
New York, New YorkAges 7–17 - 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+ - NCT07490444RecruitingPhase 2
Better glasses for children with Down syndrome
This trial tests a new way to make eyeglass prescriptions for children with Down syndrome, ages 5 to 12. The goal is to see if it improves their vision.
Columbus, OhioAges 5–12 - NCT05933057RecruitingPhase 3
Givinostat for wheelchair-bound boys with Duchenne muscular dystrophy
This Phase 3 trial tests givinostat to see if it can improve safety and functional outcomes in boys with Duchenne muscular dystrophy who cannot walk. You might be a candidate if you meet age, genetic diagnosis, wheelchair-level mobility, and specific arm-strength/respiratory/heart criteria.
LeuvenAges 9–17 - NCT07054515RecruitingPhase 3
Study of oral nizubaglustat for rare genetic disorders
This trial tests a new oral medicine, nizubaglustat (AZ-3102), for children and adults (4+) with late-infantile or juvenile Niemann-Pick type C, GM1, or GM2 gangliosidosis. It aims to see if the drug is safe and helps slow disease progression.
Oakland, CaliforniaAges 4 years+ - NCT07672210Recruiting
Pregnancy-related aortic dissection in China
This study is looking at cases of aortic dissection that happen during pregnancy or shortly after childbirth in China. It aims to understand how these events occur and how they can best be managed.
Shanghai, Shanghai MunicipalityAges 16–55 - NCT07711730Recruiting
Telehealth support for kids with limb-girdle muscular dystrophy
This study tests an online program to help children and teens with limb-girdle muscular dystrophy improve their thinking, social skills, and emotional well-being. You join from home using a computer with a camera and internet.
Bilbao, BiscayAges 7–17 - NCT07710885RecruitingPhase 3
Futibatinib for advanced bile duct cancer
This trial tests a new targeted therapy, futibatinib, for people with advanced or unresectable bile duct cancer who have not had prior treatment for advanced disease. It aims to see if this drug can help shrink or control the cancer.
BrisbaneAges 18 years+ - NCT06723106Enrolling by invitationPhase 1
Long-term safety study of RAY121 for immune conditions
This study is for people who already took RAY121 in a previous trial and did well. It tests whether continuing the treatment is safe and effective over a longer period. The goal is to manage chronic immune conditions.
Camperdown, New South WalesAges 18–85 - NCT06788990RecruitingPhase 2/Phase 3
Study of ficerafusp alfa with pembrolizumab for advanced head and neck cancer
This study tests a new drug called ficerafusp alfa (BCA101) combined with the immunotherapy pembrolizumab for people with advanced head and neck cancer that has not been treated before. The goal is to see if adding ficerafusp alfa helps shrink tumors better than pembrolizumab alone.
Birmingham, AlabamaAges 18 years+ - NCT06451770RecruitingPhase 1
Testing VERVE-201 for stubborn high cholesterol or triglycerides
This trial tests a new one-time treatment called VERVE-201 for people with very high cholesterol or triglycerides that don't get better with standard medicines. The goal is to see if it can safely lower these fats in your blood.
Clearwater, FloridaAges 18–70 - NCT07709702Recruiting
Enhanced recovery after surgery for children with bile duct issues
This trial tests an enhanced recovery program (ERAS) to help children heal faster after surgery for two bile duct conditions: choledochal cyst and biliary atresia. The program includes steps to improve recovery, like better pain control and early eating.
Lahore, Punjab ProvinceAges 1 month–14 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.