Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,771
- Phase 2284
- Phase 1235
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis128
- Congenital Heart Disease86
- 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
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT05581147Recruiting
Thyroid health in Klinefelter syndrome
This study looks at how the thyroid gland works and how it looks on ultrasound in people with classic (non-mosaic) 47,XXY Klinefelter syndrome. It may help doctors understand thyroid-related problems in this condition by comparing test results, symptoms, and imaging.
RomaAges 1–80 - NCT05582993RecruitingPhase 3
Study of rVWF for severe bleeding disorder in children
This Phase 3 trial tests vonicog alfa (an rVWF treatment) to prevent and control bleeding in children with severe von Willebrand disease (vWD). You may be able to join if your child has severe vWD and has been on prior clotting factor treatment with ongoing bleeding despite that care.
Birmingham, AlabamaAges Up to 17 years - NCT05583721RecruitingPhase 2
PET scan study of heart filling and blood flow in sickle cell
This study uses a PET scan to look for links between abnormal heart “filling” problems and how well blood reaches the heart muscle in people with sickle cell disease. The results may help explain early heart changes in sickle cell and guide future care.
Memphis, TennesseeAges 18–21 - NCT05584488Recruiting
Study of immune and allergy patterns over time
This study follows people with suspected or known inherited immune/allergy problems by collecting health information and blood. It may help researchers understand how immune systems and allergies behave over time and support future studies.
New York, New YorkAges Up to 99 years - NCT05586802RecruitingPhase 3
Balancing sex hormones to improve metabolism and fertility in Klinefelter
This study tests whether adjusting sex-hormone levels can improve body metabolism and reproductive hormone balance in people with Klinefelter syndrome. Depending on the design, you may be looking at fertility preservation and/or metabolic health.
LausanneAges 16–65 - NCT05587439Recruiting
Study of inherited genetic risk in lung and related cancers
This study looks for inherited (family-passed) genetic changes that may raise the risk of lung cancer and related thoracic cancers. It may help people and families understand their genetic risk by collecting health information and sometimes specimens from patients and relatives.
Boston, MassachusettsAges 18 years+ - NCT05588167Recruiting
Niemann-Pick type C patient database and genetic data study
This study collects health information and genetic samples from people diagnosed with Niemann-Pick disease type C. The goal is to build a large database that can help researchers better understand the condition and improve future care.
Bethesda, MarylandAges 3 months+ - NCT05589714Recruiting
Study your rare eye gene and track retinal disease over time
This study builds a registry and tracks the natural history of rare retinal dystrophies while also testing people for disease-causing gene variants. It may help researchers better understand what causes retinal degeneration and how it progresses.
Little Rock, ArkansasAges 4 years+ - NCT05593679Recruiting
Registry study for heart PYP scans in possible ATTR amyloidosis
This study collects information from adults who have been diagnosed with, or are being checked for, ATTR amyloidosis (a condition where abnormal protein builds up in the body) using a heart PYP scan. Your participation may help doctors better understand how these scans relate to diagnosis and follow-up over time.
New Taipei CityAges 20 years+ - NCT05602376Recruiting
HIV messages to help men get tested and stay in care
This study tests whether special “U=U” style messages can improve how men move from HIV testing to starting treatment and continuing care. You may be asked to receive guidance and information meant to help you stay engaged in HIV treatment.
East London, Eastern CapeAges 15 years+ - NCT05604846Recruiting
Probiotic drops for very preterm babies in Scandinavia
This trial studies whether giving probiotic supplements to extremely preterm newborns helps improve health outcomes. It’s meant for babies born very early, and the results could help guide safer early nutrition and care.
Solna, Stockholm CountyAges 5 months–6 months - NCT05610878RecruitingPhase 1
Stem cell help to improve fat grafting results
This early-phase study tests whether “preconditioned” stem cells from fat tissue can improve the look of fat transferred during liposuction and grafting. If you qualify, you may receive stem cells along with fat grafting to see how well it works and how safe it is.
Lahore, Punjab ProvinceAges 18–50 - NCT05611268Recruiting
Pentoxifylline added for Eisenmenger syndrome
This study tests whether adding pentoxifylline to usual care can improve health outcomes in people with Eisenmenger syndrome. It may help reduce problems related to blood flow and vessel function, especially for those not recently hospitalized.
São PauloAges 10–80 - NCT05614219Recruiting
Check if you have high cholesterol from genes
This trial focuses on people referred to a cholesterol (lipid) clinic to help identify inherited high cholesterol. It tests an “interpretive comment” approach to nudge detection—meaning it may help clinicians recognize who is most likely to have familial hypercholesterolemia.
Odense, FunenAges 18 years+ - NCT05619900Recruiting
Register people with lysosomal storage diseases
This study is a registry that collects information from people diagnosed with lysosomal storage diseases. It helps researchers better understand these conditions and support future studies.
San Francisco, CaliforniaAges Up to 64 years - NCT05620030Recruiting
Testing care plans for single-heart (univentricular) defects
This study follows people with a single-ventricle (univentricular) heart defect who need a multi-step treatment leading to the Fontan procedure. It aims to better understand how this staged care should be delivered and monitored over time.
ErlangenAges 6–60 - NCT05621746Recruiting
Tracking joint health after starting Esperoct in hemophilia A
This is a study that follows how people’s joints are doing after they start (or switch to) Esperoct, a preventive hemophilia medicine. It mainly collects real-world health information to understand joint outcomes over time.
Hamilton, OntarioAges 18 years+ - NCT05628948Recruiting
Donate blood for a heart and metabolism research biobank
This study builds a “biobank,” which is a collection of blood and related samples, to support future research on heart and metabolic (sugar/body-fat) conditions. It may help researchers better understand these diseases and improve future prevention and treatments.
Cleveland, OhioAges 18 years+ - NCT05629130Recruiting
Blocking blood vessel procedures for bleeding-related joint inflammation
This study looks at whether a “blocking” procedure (embolization) can improve long-lasting joint inflammation caused by inherited bleeding disorders. It focuses on people with joint lining inflammation from repeated bleeding into the joint.
São PauloAges Any age - NCT05629559RecruitingPhase 1/Phase 2
Study drug 4D-310 for Fabry disease with heart problems
This Phase 1/2 study tests how safe and potentially effective 4D-310 is for adults with Fabry disease who have heart involvement. It may help people who can’t tolerate standard treatments like enzyme replacement therapy (ERT) or migalastat, or who still have disease progression.
MelbourneAges 18–65 - NCT05630794RecruitingPhase 1
Test ONC201 to prevent colorectal polyp return in high-risk people
This Phase 1 study tests whether ONC201 is safe and may help prevent colorectal polyps (adenomas) from coming back. You’d also undergo planned colon/rectum camera exams to check for new or changing polyps.
Ann Arbor, MichiganAges 18 years+ - NCT05630651Recruiting
ZS801 for adults with severe hemophilia B
This trial studies ZS801, a gene therapy, in adults with hemophilia B who have very low natural FIX (a clotting protein) and frequent bleeding or joint problems. It aims to see how well it works and whether it is safe, especially by monitoring blood counts, infections, and immune responses.
Tianjin, Tianjin MunicipalityAges 18–65 - NCT05636397Recruiting
Oral L-citrulline for fragile preterm babies with lung or bowel disease
This trial studies whether an oral medicine called L-citrulline (L-cit) is safe and how it works in very preterm infants. It includes two groups: babies with chronic lung disease (with or without high blood pressure in the lungs) and babies recovering from severe bowel infection (NEC).
Toronto, OntarioAges 1 month–6 months - NCT05636579RecruitingPhase 1
Testing safety of multiple EO2002 eye drops for corneal swelling
This Phase 1 study tests whether EO2002 eye drops are safe and well tolerated in people with painful corneal swelling caused by the cornea’s inner lining not working well. It focuses on safety first, but your eye symptoms and vision may be monitored to see how you respond.
Mexico City, Mexico CityAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,764 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.