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
- NCT04903223RecruitingPhase 1
Testing how fat in the liver affects statin use in kids
This early study tests whether “liver fat” changes how a statin (rosuvastatin) works in children and teens. It may help doctors choose safer or more effective dosing in kids based on biology and a specific genetics marker.
Kansas City, MissouriAges 8–21 - NCT04903782Recruiting
Family whole-genome testing for children with newly diagnosed cancer
This study offers whole-genome testing (a way to read a person’s DNA) to families after a child is newly diagnosed with cancer. It aims to find inherited changes that may explain why cancer happened and guide future care or monitoring.
Newcastle, New South WalesAges Up to 21 years - NCT04905537Recruiting
Genetic screening for newborns after a serious pregnancy loss
This trial looks at doing early genetic testing in newborns/early life cases after a serious pregnancy loss, to learn whether genetics can help understand why it happened. If you have the right timing and sample availability, the results may help future “more precise” care planning and research.
Shanghai, Shanghai MunicipalityAges Up to 3 months - NCT04906460RecruitingPhase 1/Phase 2
Testing WVE-N531 for Duchenne muscular dystrophy exon 53
This early-phase study tests WVE-N531 in people with Duchenne muscular dystrophy (DMD) whose genetics specifically match an “exon 53” change. It may help by targeting the muscle disease process, and it includes procedures like muscle biopsies and regular heart/lung checks.
Little Rock, ArkansasAges 4–18 - NCT04908319Recruiting
Studying liver tissue in urea cycle disorders
This study looks at liver tissue (under a microscope) in people with urea cycle disorders to better understand liver changes from the condition. It may help clinicians learn what to watch for and how to manage liver health, especially around liver biopsy or transplant.
Washington D.C., District of ColumbiaAges Any age - NCT04911036Recruiting
Compare parent stress after diagnosis before versus after birth
This study looks at how the timing of a baby’s diagnosis—before birth (antenatal) versus after birth (postnatal)—affects parents’ stress and emotional reactions after their child has surgery. You may be able to contribute by sharing experiences as a parent of a child who had this specific surgery.
LilleAges 18 years+ - NCT04912843RecruitingPhase 2/Phase 3
Gene therapy for inherited optic nerve vision loss
This trial tests a gene therapy injection into the eye to improve vision in people with a specific type of inherited optic nerve disease called Leber’s hereditary optic neuropathy (LHON). It is aimed at people who have a particular genetic change and a history of vision loss lasting long enough to measure change, while checking for safety first.
BeijingAges 12–75 - NCT04912648Recruiting
Study of metabolic risk and androgens in Irish women
This study looks at how hormones called androgens may relate to “metabolic risk” (things like blood sugar and weight-related health) over time. It mainly needs healthy adult women who can avoid certain medications during the weeks before starting.
DublinAges 18 years+ - NCT04917887Recruiting
Gene therapy long-term follow-up for Krystal Biotech patients
This study follows people who previously received a gene therapy from Krystal Biotech to better understand long-term safety and outcomes. If you already had their gene therapy before and you can keep follow-up appointments, you may be able to join.
Rancho Santa Margarita, CaliforniaAges 6 months+ - NCT04920149RecruitingPhase 2
Mesalamine to help prevent colon cancer in Lynch syndrome
This trial tests whether mesalamine, a medicine used for bowel inflammation, can help prevent colorectal cancer in people with Lynch syndrome who do not currently have cancer. It may help by lowering the chance that new pre-cancer growths form over time.
AalborgAges 30 years+ - NCT04924075RecruitingPhase 2
Belzutifan for cancers linked to VHL or HIF-2α changes
This Phase 2 study tests belzutifan (MK-6482) to treat certain advanced cancers caused by specific gene or disease changes, including VHL-related tumors and HIF-2α related tumors. It may help shrink tumors or slow their growth in people whose cancer matches these genetic or disease patterns.
Los Angeles, CaliforniaAges 12 years+ - NCT04925349Recruiting
Study blood immune patterns in several rare brain diseases
This study looks at immune cells in blood to better understand rare brain conditions caused by genetic changes. It may help researchers understand why symptoms happen and how the immune system is involved.
Le Kremlin-BicêtreAges 1.3 years–60 years - NCT04927156Recruiting
Check safety and use of Balt medical devices after treatment
This post-marketing study follows people after they receive Balt medical devices to make sure the devices are safe, work well, and are easy to use in real life. You may be considered if you can consent and your procedure matches their device-use rules.
AngersAges 2 years+ - NCT04928352RecruitingPhase 3
Breathing numbing medicine during cleft palate surgery
This trial tests whether a breathing treatment (nebulized numbing medicine) can reduce pain during cleft palate repair in young children. It may help comfort your child after surgery when they are under general anesthesia.
Asyut, AssuitAges 1–7 - NCT05735717RecruitingPhase 2
T-cell transplant using depleted receptors for blood cancers
This Phase 2 study tests a specialized stem cell transplant that removes certain immune “T-cell” receptors to help treat blood cancers like acute leukemia. It may help your body rebuild a healthier immune system after high-dose treatment.
Minneapolis, MinnesotaAges Up to 60 years - NCT07697872Recruiting
The Dirty Nappy Study for babies with liver problems
This study looks at babies with possible liver problems (cholestasis) who have been referred to the Birmingham Liver Unit. Researchers want to collect information from nappy (diaper) samples to better understand these conditions.
BirminghamAges Up to 11 years - NCT07699666Recruiting
Cord clamping timing for preterm babies
This study compares waiting a bit before clamping the umbilical cord versus clamping it right away for babies born between 32 and 37 weeks of pregnancy. It helps determine which approach may be better for preterm infants.
Tunis, Tunis GovernorateAges birth+ - NCT07698951Recruiting
Testing a new device to close PFO after stroke
This trial tests a new device to close a PFO (a small hole in the heart) in people who have had a stroke caused by a blood clot passing through that hole. The goal is to see if the device can prevent another stroke.
BelgradeAges 18–65 - NCT07698743Recruiting
Eating disorders in phenylketonuria patients study
This study looks at eating habits and disorders in people with phenylketonuria (PKU) who are treated at a specific hospital in Nancy, France. Participating involves sharing information, which may help doctors better understand eating challenges in PKU.
NancyAges Any age - NCT07697222Recruiting
Pain block comparison for pectus excavatum repair
This trial compares two types of nerve blocks to control pain after a minimally invasive surgery to fix a sunken chest. It aims to see which block works better for recovery.
Istanbul, IstanbulAges 15–25 - NCT06240715Recruiting
Umbilical cord milking for premature babies who need help at birth
This study tests whether gently squeezing the umbilical cord before clamping it (called cord milking) helps premature babies who are not vigorous at birth. It is being done in hospitals with fewer resources to find safe and effective ways to improve oxygen and blood flow right after delivery.
Belagavi, KarnatakaAges birth–10 minutes - NCT02437396Recruiting
Blood tests in stable adults with Gaucher disease
This study measures inflammation and “oxidative stress” (cell stress caused by imbalance in the body) using blood biomarkers in adults with Gaucher disease. It may help researchers understand what’s happening in the body and how treatment status relates to these blood signals.
Minneapolis, MinnesotaAges 18–75 - NCT07531251RecruitingPhase 4
Barth Syndrome Heart Treatment Study
This trial tests a medicine called elamipretide (4TAZ) in boys with Barth Syndrome, a genetic condition affecting the heart and muscles. The goal is to see if this medicine can help improve heart function and how the body uses energy.
Needham, MassachusettsAges 5–55 - NCT07555483RecruitingPhase 3
Weekly injection vs IV infusion for alpha-1 antitrypsin deficiency
This trial tests whether a new weekly injection form of alpha-1 antitrypsin replacement therapy (a protein your body lacks) works as well as the standard IV infusion you may currently receive. The goal is to offer a more convenient treatment option for people with alpha-1 antitrypsin deficiency (a genetic lung condition).
Birmingham, AlabamaAges 18–80
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.