Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,756 recruiting studies in this area right now.
By phase
- Not applicable2,677
- Phase 2277
- Phase 1238
- Phase 3210
- Phase 1/Phase 2208
- Phase 497
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis125
- Congenital Heart Disease84
- Cystic Fibrosis76
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy37
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)28
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
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
- Massachusetts General Hospital22
Where studies are running
- California325
- Maryland161
- Alabama133
- Massachusetts107
- Arizona86
- New York85
- Texas70
- Minnesota68
- Pennsylvania62
- Florida59
Recruiting studies3,756 total
- NCT00455104Recruiting
Fabry disease registry for Canadians and eligible adults
This study is a national registry that collects health and medical information from people with Fabry disease. It helps researchers better understand the condition and plan future care and studies.
Calgary, AlbertaAges 5–85 - NCT02829684Recruiting
Register for people with Prader-Willi syndrome
This is a patient registry that collects information about people with Prader-Willi syndrome. It may help researchers better understand the condition and plan future studies.
ToulouseAges Any age - NCT06261710Recruiting
Ultrasound in labor: fewer internal exams
This study uses ultrasound during labor to see if it can reduce the number of internal exams (like cervical checks) you need. It aims to make labor more comfortable and less invasive for mothers with a head-down baby in spontaneous or induced labor.
BerlinAges 18–60 - NCT07857746Recruiting
Outcomes of stem cell transplant in children
This study looks at how children who received a stem cell transplant at one hospital are doing. It aims to learn about their recovery and long-term results, which can help improve care for future patients.
Ratchathewi, BangkokAges Up to 18 years - NCT07857460Recruiting
German registry for low parathyroid hormone levels
This study is a registry that collects health information from people with chronic low parathyroid hormone (hypoparathyroidism) or pseudohypoparathyroidism. It aims to better understand these conditions and improve future care. You may join if you are an adult living in Germany.
Augsburg, BavariaAges 18 years+ - NCT06271083Recruiting
Online behavior therapy for Tourette syndrome in adults
This trial tests an online behavior therapy program for adults with Tourette syndrome or chronic tic disorder. You'll complete a 10-week internet-based treatment from home, with therapist support, to help reduce your tics.
StockholmAges 18 years+ - NCT04031287Recruiting
Riordan com disease life story study
This study collects health information from children and young adults with a rare genetic condition called rhizomelic chondrodysplasia punctata (RCDP) to learn more about how the condition affects people over time. By participating, you can help doctors better understand the condition and improve future care.
Wilmington, DelawareAges 6 months–21 years - NCT06272149RecruitingEarly Phase 1
Gene Therapy for Infants With Type 2 Gaucher Disease
This trial tests a new gene therapy (VGN-R08b) for infants with Type 2 Gaucher disease, a rare genetic condition that affects the brain and body. The goal is to see if the treatment is safe and can help improve symptoms.
Shanghai, Shanghai MunicipalityAges birth–2 years - NCT05771688Recruiting
Balloon procedure for severe left lung birth defect
This trial studies a fetal procedure where doctors place a small balloon to help a severe left-sided lung birth defect (CDH) develop better. It aims to improve baby outcomes by temporarily blocking the airway in the womb, starting in a specific week range of pregnancy.
Minneapolis, MinnesotaAges 18 years+ - NCT06275373Recruiting
Teprotumumab for thyroid eye disease study
This study tests if the drug teprotumumab can help with symptoms of thyroid eye disease, such as bulging eyes, pain, or double vision. It is for adults who are beneficiaries of the Department of Defense (DOD).
Bethesda, MarylandAges 18 years+ - NCT03742011Recruiting
Study of babies born to mothers with PCOS in Guangzhou
This study looks at children born to mothers who have polycystic ovary syndrome (PCOS). It aims to learn about their health by following families in Guangzhou over time.
Guangzhou, GuangdongAges Up to 18 years - NCT03650829Recruiting
IVF baby study for pregnancies in Guangzhou
This study looks at babies born from IVF (assisted reproductive technology) pregnancies. It may help the hospital better understand outcomes for families who plan to deliver there and stay in Guangzhou for years.
Guangzhou, GuangdongAges Up to 18 years - NCT01574053Recruiting
Global Huntington’s disease registry for gene carriers and controls
This study builds a global record of people who carry the Huntington’s (HD) gene change and people who do not. By comparing them over time, researchers hope to better understand how HD begins and progresses.
Birmingham, AlabamaAges 18 years+ - NCT07874074Enrolling by invitation
Follow-up study for children with primary hyperoxaluria type 1 treated with lumasiran
This study follows children who have primary hyperoxaluria type 1 (PH1) and are being treated with lumasiran. The goal is to monitor their health and treatment progress over time.
Milan, LombardyAges birth–18 years - NCT07873268Recruiting
Resin infiltration for enamel spots on front teeth
This trial tests a dental treatment called resin infiltration, which is a liquid that is applied to the white or discolored spots on permanent front teeth caused by a condition called molar-incisor hypomineralization. The treatment aims to improve the appearance of these spots and strengthen the enamel without needing drilling or fillings.
Hanoi, NorthAges 7–11 - NCT07853872Recruiting
Cheek flap surgery for speech problems after cleft palate
This study looks at how using tissue from the cheek to help close the gap in the roof of the mouth affects the cheek and the muscle used for chewing. It aims to see if this surgery is safe and effective for improving speech.
SohagAges 18 years+ - NCT07859020Recruiting
AI-assisted diagnosis of fast heart rhythms from ECG
This study uses artificial intelligence to analyze ECG recordings and help identify the exact type and location of fast heart rhythms (tachycardia). It may improve the accuracy and speed of diagnosis for conditions like supraventricular tachycardia, Wolff-Parkinson-White syndrome, premature ventricular contractions, and ventricular tachycardia.
Incheon, IncheonAges 19 years+ - NCT06287541Recruiting
Do you need a second bladder surgery after a negative urine test?
This study looks at whether a second bladder surgery is still needed for people with high-risk bladder cancer who had a negative urine test after their first surgery.
Nanjing, JiangsuAges 18 years+ - NCT05701514Recruiting
Test in babies with a prenatal lung cyst found on scans
This trial is for newborns who are found before birth to have a congenital lung cyst (CPAM) and who stay symptom-free. It tests an approach for babies with certain CPAM features to see if it’s safer and/or more effective than standard care.
Nijmegen, GelderlanfAges 1 month–1 year - NCT05750147Recruiting
Study for cardiomyopathy linked to family or genes
This study looks at people with cardiomyopathy (or related heart muscle conditions) and those who may be at risk because of family history or genetic test results. It may help researchers better understand who is likely to develop the condition and how best to monitor or support them.
LondonAges Any age - NCT06306521Recruiting
Newborn screening for hundreds of genetic diseases by genome sequencing
This research study tests a new way to screen newborns for hundreds of genetic diseases using a sample of their blood or saliva. It aims to find conditions early so your baby can get the right care sooner.
San Diego, CaliforniaAges 1 day–4 weeks - NCT06202846Recruiting
Looking for Y chromosome in Turner syndrome blood
This study looks for a tiny piece of the Y chromosome (a sex chromosome normally found in males) in a blood sample. It may help doctors better understand Turner syndrome and find hidden Y chromosome material that could affect health.
LyonAges 2–74 - NCT06302270Recruiting
Kaftrio during pregnancy and after birth
This study looks at how the cystic fibrosis medication Kaftrio works during pregnancy and after childbirth. It follows women with cystic fibrosis who are already taking Kaftrio and their newborn babies.
StockholmAges Up to 50 years - NCT02965326Recruiting
Testing blood and swab markers to track new cystic fibrosis treatments
This study looks for simple signals (markers) that may show whether cystic fibrosis treatments are working. It includes people who take CF “modulator” medicines like ivacaftor, people who don’t, and people whose cystic fibrosis was ruled out after testing.
ParisAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,756 recruiting medical genetics studies from the U.S. registry right now, out of 5,439 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.