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
- NCT03919981Recruiting
Testing Cysteamine for cystinosis bone health
This study looks at how cysteamine affects the bone health of people with nephropathic cystinosis, a rare genetic condition. It includes children and adults who are already taking cysteamine by mouth and will follow the study plan closely.
BesançonAges 2 years+ - NCT03921060RecruitingPhase 4
Check osteoporosis markers in people with cystic fibrosis
This study looks for signs (markers) of bone thinning—called osteoporosis—in people with cystic fibrosis. Your participation may help researchers understand how osteoporosis develops in CF and whether a bone-strengthening medicine like denosumab could help, since some participants may need that medication.
Dallas, TexasAges 18–64 - NCT03925194RecruitingPhase 2
Test Anakinra injections under the skin for cystic fibrosis
This Phase 2 study tests whether a medicine called anakinra, given as under-the-skin injections, is safe and may improve lung outcomes in adults with cystic fibrosis. You may be able to join if you meet specific breathing and lab criteria and can follow the study schedule.
Heidelberg, Baden-WurttembergAges 12 years+ - NCT03928431Recruiting
Restore gut bacteria in newborns using special microbiome samples
This study looks at whether restoring a newborn’s gut bacteria (microbiome) can improve early health. Babies are treated based on the birth conditions, especially whether delivery was vaginal or by C-section.
Stockholm, Stockholm CountyAges 5 minutes–15 minutes - NCT03931707Recruiting
Genetic study of newborns in China
This study collects genetic information from very young newborns to better understand early-life health. Your child’s information may help researchers learn about genetics and future research.
Shanghai, Shanghai MunicipalityAges Up to 4 weeks - NCT03936335Recruiting
Study women with atopic dermatitis during pregnancy
This is an observational study that looks back at medical and pharmacy records of women with atopic dermatitis around pregnancy. It may help researchers better understand how this condition affects pregnant patients and pregnancy-related care.
Boston, MassachusettsAges 18–49 - NCT03937817Recruiting
Donate samples to study globin gene variants
This study collects common body samples to learn how different globin gene variants work and how they relate to health. Your samples may also be used later for new research, including genetic testing.
Bethesda, MarylandAges 18–70 - NCT03949049RecruitingPhase 3
Citi-coline for babies who had low oxygen at birth
This trial studies whether a medicine called citicoline can protect the brain in newborns who had low oxygen (hypoxia). It may help reduce brain injury in babies, but it does not include babies with a specific severe brain condition.
CairoAges Up to 1 month - NCT03952637RecruitingPhase 1/Phase 2
Gene therapy for GM1 disease with IV delivery
This early-stage study tests an IV gene therapy that delivers a working copy of an enzyme gene to help the body make beta-galactosidase in GM1 gangliosidosis. It may help slow or improve disease symptoms and looks closely at safety and how well the treatment works.
Bethesda, MarylandAges 6 months–12 years - NCT03976960Recruiting
Database study for colon cancer surgery patients
This study collects clinical and lab information from people who have surgery for colon cancer (or certain precancer growths) and related spread to organs. It may help researchers better understand colon cancer and improve future care, but it is not a new medication trial.
Montpellier, HéraultAges 18 years+ - NCT03976180Recruiting
High-flow oxygen for painful sickle cell episodes
This trial tests whether giving high-flow oxygen can help treat a painful sickle cell “vaso-occlusive crisis” (VOC) and lower the risk of a serious lung complication. You may be eligible if you’re an adult with sickle cell disease experiencing an opioid-requiring pain flare and have higher risk for lung trouble.
CréteilAges 18 years+ - NCT03980717Recruiting
Balloon procedure for severe congenital diaphragmatic hernia in pregnancy
This trial tests whether placing a tiny balloon in the fetus’s windpipe can help lungs develop and improve severe pulmonary (lung) blood pressure in babies with severe congenital diaphragmatic hernia (CDH). It may lower the chance of breathing and circulation problems after birth, but it requires a specialized procedure and close follow-up in Houston.
Houston, TexasAges 18–45 - NCT03981276Recruiting
Study aims to understand inherited walking stiffness disorders
This study looks at the causes and biology (“biomarkers”) of hereditary spastic paraplegias and related conditions. You may join as someone with the condition, a family member without symptoms, or a healthy person, to help researchers understand what’s happening in the nervous system.
InnsbruckAges Any age - NCT03981575Recruiting
Biomarker and health marker study in myotonic dystrophy type 1
This study measures physical and lab “health markers” in people with myotonic dystrophy type 1 (DM1) to better understand how the disease changes over time. Some participants may also have a muscle biopsy to study tissue differences.
La Jolla, CaliforniaAges 18–70 - NCT03988764Recruiting
Checking monogenic diabetes wrongly labeled as type 1
This trial looks at people who were diagnosed with diabetes before age 25 as either type 1 or “not sure which type.” It may help confirm whether the cause is genetic (monogenic) rather than type 1, which can change treatment choices.
Montreal, QuebecAges 1 day–25 years - NCT03989167Recruiting
Decision support for inherited high cholesterol records
This trial tests a computer “decision support” tool for primary care clinics to help manage familial hypercholesterolemia, an inherited condition that can cause very high cholesterol. It may help clinics make more consistent decisions using patients’ health records.
LinköpingAges 18–80 - NCT04001582Recruiting
UK facial and shoulder muscle disease patient registry
This registry aims to collect health information from people in the UK who have facioscapulohumeral muscular dystrophy (FSHD). It helps researchers better understand the disease and plan future studies.
Newcastle upon TyneAges Any age - NCT04001842Recruiting
Tested new jaw bone repair to support future dental work
This trial is studying a method to rebuild part of the lower jaw using a blood-supply bone replacement, so you can later get dental rehabilitation. It’s for adults who need a sizable, tumor-free jaw bone reconstruction and who can safely undergo surgery.
AlexandriaAges 18–65 - NCT04002882Recruiting
Study how body fat pattern affects lung decline in cystic fibrosis
This study looks at how where your body stores fat may be linked to changes in metabolism and lung function over time in people with cystic fibrosis. It also compares results with healthy people similar in age, sex, and body size to understand the differences better.
Birmingham, AlabamaAges 16 years+ - NCT04003363Recruiting
Myotonic dystrophy registry to help track your condition
This is a national registry that collects information from people who have (or may soon have) myotonic dystrophy. By joining, you help researchers better understand the disease and may make future studies easier to access.
Newcastle upon TyneAges Any age - NCT07417111Recruiting
CPAP breathing support for very premature babies
This study looks at whether a careful CPAP breathing support plan helps very premature babies breathe better. It may be an option for babies who are stable on low oxygen settings and have few breathing pauses.
Birmingham, AlabamaAges Up to 7 months - NCT07702149Recruiting
Diet for Behcet's disease patients with ringing in the ears
This trial tests whether a special diet can help ringing in the ears (tinnitus) in people with Behcet's disease who also have obesity. The goal is to see if dietary changes reduce tinnitus symptoms.
Giza, DokkiAges 40–55 - NCT07702448Recruiting
Jaw surgery and its effect on mood and looks
This study looks at how jaw surgery affects your mood and how you feel about your appearance. You will answer questions one week before surgery and again 6 months after, and you need to use social media as part of the research.
KirikkaleAges 18–40 - NCT07702123Recruiting
Physical activity study for women with Behcet's and metabolic syndrome
This study tests if a physical activity program helps women who have both Behcet's disease and metabolic syndrome. It aims to improve their health and well-being.
Giza, DokkiAges 40–50
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.