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 applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- 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
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT07478224Recruiting
Blood flow restriction training for osteogenesis imperfecta type I
This study tests whether a special type of strength training, called blood flow restriction training, can improve muscle, bone, and quality of life in adults with osteogenesis imperfecta type I.
GhentAges 18–65 - NCT07479147Recruiting
Stroke prevention in elderly by PFO closure vs blood thinners
This trial compares two treatments for preventing another stroke in older adults who have a PFO (a small hole in the heart). It tests whether closing the hole with a device works better than using blood-thinning medication.
TaichungAges 18–90 - NCT07480265Recruiting
Homocysteine and early heart function in new high blood pressure
This study looks at a substance in your blood called homocysteine and how it affects the early filling of your heart's main pumping chamber. It may help doctors understand heart risks in people newly diagnosed with high blood pressure.
Konya, MeramAges 18 years+ - NCT07480720Recruiting
Thyroid autoimmunity and eye changes in Graves disease
This study looks at how inflammation and thyroid autoimmunity in Graves disease may cause changes in the retina at the back of the eye. It uses a special eye scan (OCT) to measure those changes and compares results between people with Graves disease and healthy volunteers.
Elâzığ, ElaziğAges 18 years+ - NCT07484464Recruiting
Otago exercise for balance in children with Down syndrome
This study tests a special exercise program (the Otago program) to see if it improves balance, stamina, and coordination in children with Down syndrome. It might help your child become more steady and active.
Lahore, Punjab ProvinceAges 8–14 - NCT07484607Recruiting
Study on infections and treatments in cystic fibrosis exacerbations
This study looks at how lung infections and inflammation affect people with cystic fibrosis during severe flare-ups. It aims to understand which antibiotics work best and why, so your care team can choose the right treatment for you.
CardiffAges 16 years+ - NCT07484945Recruiting
Multiomics study in adults with phenylketonuria
This study looks at adults with phenylketonuria (PKU) using advanced testing (called multiomics) to understand how the condition affects the body. If you took part in a previous PKU study (ECOPHEN) and are willing to give a saliva sample for DNA analysis, this trial may be for you.
AngersAges 18 years+ - NCT05354505Recruiting
Balloon procedure in pregnancy for severe diaphragmatic hernia
This trial studies a prenatal procedure called FETO, where a small balloon is placed in the fetal windpipe to help lung growth in babies with a severe diaphragmatic hernia. It may improve newborn outcomes by preparing the lungs before birth.
New York, New YorkAges 18 years+ - NCT06451757RecruitingPhase 3
A trial of sonlicromanol for mitochondrial disease
This trial tests a new medicine, sonlicromanol, for people with a specific type of mitochondrial disease (caused by the m.3243A>G mutation) who also have chronic fatigue and muscle weakness. The goal is to see if it helps improve symptoms and daily function.
Boston, MassachusettsAges 18 years+ - NCT06712823RecruitingPhase 2
Long-term safety study of atumelnant for adrenal hyperplasia
This study tests the long-term safety and effectiveness of the study drug atumelnant for people with congenital adrenal hyperplasia. It is for those who have already completed a previous atumelnant study and may benefit from continuing treatment.
Minneapolis, MinnesotaAges 16–74 - NCT06970106RecruitingPhase 1/Phase 2
Study of PYC-001 eye injections for people with a type of inherited optic nerve disease
This trial tests a new medicine called PYC-001, given as an injection into the eye, for people with a specific genetic form of vision loss called autosomal dominant optic atrophy (ADOA). It aims to see if the treatment is safe and could help protect or improve vision.
Sydney, New South WalesAges 18 years+ - NCT06477289Recruiting
Blood vessel function and thinking in sickle cell disease
This study looks at how blood vessel function in the fingers (using a simple test called arterial tonometry) relates to thinking and memory in people with sickle cell disease. It involves a non-invasive measurement and cognitive tasks.
Memphis, TennesseeAges 12–25 - NCT07674290RecruitingPhase 4
Study of MC4R Agonist for Bardet-Biedl Syndrome and Genetic Obesity
This trial tests a drug called setmelanotide for people with Bardet-Biedl Syndrome (a rare genetic condition) or other severe genetic obesity. It looks at how well the drug works in real-world settings, not just in a lab.
EssenAges Any age - NCT07325487Recruiting
Brain stimulation for walking and balance in SCA6 ataxia
This study tests a new kind of deep brain stimulation that adjusts automatically to improve balance and coordination in adults with SCA6, a genetic form of ataxia. It may help patients who can still walk but have moderate to severe symptoms.
Gainesville, FloridaAges 21–89 - NCT07673809RecruitingPhase 1/Phase 2
Gene therapy trial for Duchenne muscular dystrophy in young boys
This trial tests a gene therapy called GNR-097 for boys with Duchenne muscular dystrophy (DMD). The therapy aims to help improve muscle function, and the study will check how safe and effective it is.
MinskAges 4–9 - NCT06238765Recruiting
Adolescent Eczema Drug Safety Registry
This registry tracks the safety and effectiveness of medications used for moderate to severe atopic dermatitis (eczema) in adolescents aged 10 to 15. It helps doctors understand how well these treatments work and what side effects might occur over time.
Waltham, MassachusettsAges 10–15 - NCT06998134Recruiting
Exoskeleton walking training for children and young adults
This trial tests whether a robotic leg exoskeleton can help improve walking in children and young adults with certain conditions (like cerebral palsy, muscular dystrophy, spina bifida, or spinal cord injury) or those with no walking issues. The goal is to find out if the exoskeleton is safe and effective for everyday use, especially in younger people who might lose the ability to walk as they get older.
Bethesda, MarylandAges 5–25 - NCT07672756RecruitingPhase 1
Testing PL54 injection for adults with PKU
This study tests a new injection called PL54 to see if it is safe and tolerable for adults with phenylketonuria (PKU), a condition where the body cannot break down an amino acid called phenylalanine. It is designed for people with high blood phenylalanine levels and may offer a new treatment option.
Hefei, AnhuiAges 18–55 - NCT05777512Recruiting
Comparing feeding tube placement to improve breathing in preterm infants
This study tests whether placing a feeding tube past the stomach (postpyloric) can help very premature babies with ongoing lung problems breathe better. Infants born before 32 weeks who still need breathing support may join.
Boston, MassachusettsAges birth–1 year - NCT06734611Recruiting
Folic acid salt study in Zambia
This trial tests whether adding folic acid to salt can help prevent birth defects. It is for women who are not pregnant, not planning pregnancy, and not breastfeeding.
Birmingham, AlabamaAges 18–45 - NCT03893643Recruiting
Skin and mouth symptoms of NF2 in children under 15
This study looks at skin and mouth problems that children with NF2 may have. It helps doctors learn more about NF2 symptoms in kids, which may lead to better care.
NiceAges birth–15 years - NCT07577414Recruiting
Fetal Treatment for Congenital Diaphragmatic Hernia
This trial tests a procedure called FETO (fetoscopic endoluminal tracheal occlusion) performed during pregnancy to help babies with congenital diaphragmatic hernia—a birth defect where part of the diaphragm (breathing muscle) has a hole and organs from the belly move into the chest. The procedure temporarily blocks the baby's windpipe to help the lungs grow bigger before birth.
Ann Arbor, MichiganAges 18 years+ - NCT05880576Enrolling by invitation
Watch study for newborns suspected of aortic arch blockage
This study uses heart ultrasound findings and related measurements to better understand blood flow in newborns with suspected blockage in the aortic arch. It may help doctors improve how they evaluate and manage coarctation of the aorta and similar heart narrowing.
Boston, MassachusettsAges birth–2 months - NCT07488065RecruitingPhase 1
New drug for moderate to severe eczema
This trial tests a new injectable drug called SKB575 for people with moderate to severe atopic dermatitis (eczema). It aims to see how safe and effective the drug is, especially for those who haven't had success with strong creams or pills.
ShanghaiAges 18–70
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 5,795 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.