Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,863 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis129
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease39
- Hemophilia A39
- 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 Human Genome Research Institute (NHGRI)23
Where studies are running
- California339
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona77
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,863 total
- NCT07266584Recruiting
Retinal implant for central vision loss in inherited eye disease
This trial tests a new implant (PRIMA) placed under the retina to help restore central vision in people with inherited retinal degeneration. If you have very poor central vision and a large enough area of retinal damage, this device may help you see better.
Sydney, New South WalesAges 18 years+ - NCT05275972RecruitingPhase 3
Compare cornea surgery thickness results for FECD
This Phase 3 trial compares outcomes from two cornea transplant procedures in people with FECD, a disease that makes the cornea swell and affect vision. It may help you and others by identifying which approach best supports clear vision and stable corneal thickness after surgery.
Palo Alto, CaliforniaAges 18 years+ - NCT07432880Recruiting
Study of children with severe MMA linked to the MMUT gene
This study is for children up to 16 years old with a severe form of methylmalonic acidemia (MMA) caused by a specific gene change (MMUT). It aims to better understand the disease and may lead to future treatments. Both children who have had a liver transplant and those who have not can join, as long as certain criteria are met.
Philadelphia, PennsylvaniaAges Up to 16 years - NCT05929807Enrolling by invitationPhase 2/Phase 3
Weekly injection study for children with achondroplasia
This trial looks at how safe and effective weekly under-the-skin (subcutaneous) TransCon CNP is for children and teens with achondroplasia over the long term. You may be considered if your child has already finished a previous TransCon CNP study and can follow weekly injection and follow-up visits.
Little Rock, ArkansasAges 3–15 - NCT05214742Enrolling by invitation
Using stem cells to study rare growth disorders
This study looks at rare growth conditions (Silver-Russell, Beckwith-Wiedemann, and Temple syndrome) by creating lab cell models from patient information. It aims to help researchers better understand why these disorders happen and how they work.
ParisAges 3 months+ - NCT07766135Recruiting
Liver and blood clotting in heart amyloidosis
This study looks at how the liver and blood clotting are affected in people with a type of heart disease called transthyretin amyloidosis. It may help doctors better understand and manage this condition.
Messina, SicilyAges 18 years+ - NCT07113743Enrolling by invitationPhase 1/Phase 2
Gene therapy for x-linked chronic granulomatous disease
This trial tests a new gene therapy for X-linked chronic granulomatous disease (CGD), a condition where the immune system cannot fight certain infections. The treatment uses your own blood stem cells, which are modified in the lab to help your body produce working immune cells.
Bethesda, MarylandAges 3–60 - NCT05412394RecruitingPhase 4
Once-weekly steroid for very young children with DMD
This trial tests whether a steroid taken once each week is safe and useful for children with Duchenne muscular dystrophy (DMD). It aims to help slow disease effects in very young children whose diagnosis and lab tests confirm DMD.
Chicago, IllinoisAges 1 month–2.5 years - NCT06005181Recruiting
Music training for children with FASD
This study tests whether music training can help children with Fetal Alcohol Spectrum Disorder (FASD). It aims to see if learning music improves brain function and behavior.
Albuquerque, New MexicoAges 8–16 - NCT04104464Recruiting
Patient reports after treatment for vascular malformations
This study looks at how patients feel after a procedure used to treat vascular malformations (abnormal blood vessel growth). You may be asked to complete questionnaires about symptoms and quality of life before and after treatment.
Baltimore, MarylandAges birth–100 years - NCT07761689Recruiting
Kangaroo care for pain relief during newborn jaundice light therapy
This study tests whether holding your baby skin-to-skin (kangaroo care) during light therapy for jaundice can help reduce their pain and discomfort. It aims to see if this simple comfort measure is beneficial.
IstanbulAges 2 days–1 week - NCT06699849RecruitingPhase 2
CSL889 for sickle cell pain crisis
This trial tests a new medicine, CSL889, for people with sickle cell disease who are currently having a pain crisis (vaso-occlusive crisis). The goal is to see if it safely helps reduce the pain and speed recovery.
Oakland, CaliforniaAges 12 years+ - NCT07413965Recruiting
Transcatheter vs surgical valve replacement for severe bicuspid aortic stenosis
This trial compares two ways to replace a narrowed heart valve in people with a bicuspid aortic valve. If you're 50 or older and need a new valve, this study can help figure out which approach works best.
Los Angeles, CaliforniaAges 50 years+ - NCT06255782RecruitingPhase 3
Gene therapy study for baby boys with severe OTC deficiency
This trial tests a gene therapy called ECUR-506 for baby boys under 9 months old with a severe form of OTC deficiency. The goal is to see if it can help their bodies process ammonia better, reducing the need for a strict protein-restricted diet and medications.
Los Angeles, CaliforniaAges 1 day–7 months - NCT07764328Recruiting
Supplement for hormone balance in women with PCOS
This trial tests a dietary supplement designed to improve hormone balance in women with PCOS or PCOS-like symptoms. It may help regulate menstrual cycles and reduce signs like acne or excess hair growth.
Los Angeles, CaliforniaAges 18–40 - NCT07160634RecruitingPhase 3
Gene therapy for ambulant males with Duchenne muscular dystrophy
This trial tests a new gene therapy called SGT-003 in boys and men with Duchenne muscular dystrophy who are still able to walk. The treatment aims to deliver a working version of the dystrophin gene to help muscle cells produce the protein they are missing.
Little Rock, ArkansasAges 7–11 - NCT06192563Recruiting
Dupilumab for severe eczema with limited skin rash
This study looks at how well dupilumab works for children and teens with severe eczema (atopic dermatitis) even when the rash is not widespread. It aims to see if the treatment helps with itching, quality of life, and rashes in visible or sensitive areas.
BolognaAges 6 months–17 years - NCT06687733RecruitingPhase 1/Phase 2
Gene therapy for phenylketonuria
This trial tests a new gene therapy, NGGT002, which delivers a healthy gene to help people with phenylketonuria (PKU) manage their phenylalanine levels. It may reduce the need for strict diet control.
Bengbu, AnhuiAges 18–55 - NCT07027345RecruitingPhase 2
Topical TolaSure cream for epidermolysis bullosa simplex
This study tests a medicated cream called TolaSure on skin affected by epidermolysis bullosa simplex (EBS), a condition that causes fragile skin and blistering. The cream aims to reduce blistering and improve healing by targeting a faulty protein in the skin. It is for people with localized, intermediate, or severe EBS who are currently having active blistering.
Palo Alto, CaliforniaAges 2 years+ - NCT07172958RecruitingPhase 1
Immune cell therapy for children with certain solid tumors
This trial tests a new type of immune cell therapy called CAR T cells that are designed to recognize and attack cancer cells in children and young adults with certain solid tumors that have come back or not responded to standard treatment.
Washington D.C., District of ColumbiaAges 1–23 - NCT07482787RecruitingPhase 3
Study of SD-101 for epidermolysis bullosa in children
This trial tests a new medicine called SD-101 for children with epidermolysis bullosa (EB), a condition that causes fragile skin and blistering. It aims to see if SD-101 can help heal wounds and improve quality of life.
Rancho Santa Margarita, CaliforniaAges 4 weeks–12 years - NCT06609226RecruitingPhase 3
Long-term safety study of etavopivat for sickle cell disease or thalassaemia
This study looks at the long-term safety and benefits of taking etavopivat for people with sickle cell disease or thalassaemia who have already been helped by it in a previous trial. It aims to see if staying on the treatment continues to be safe and effective.
Birmingham, AlabamaAges 2 years+ - NCT03653338RecruitingPhase 1/Phase 2
Bone marrow transplant using donor blood to treat sickle cell
This trial tests a specific type of bone marrow transplant for people with sickle cell disease (or certain other blood disorders) who have had serious complications despite standard care. It aims to see if removing the patient’s immune cells and using a matched donor’s cells can improve outcomes and reduce complications.
Pittsburgh, PennsylvaniaAges 5–40 - NCT06612268RecruitingPhase 3
Testing etavopivat for sickle cell disease
This study tests an experimental pill called etavopivat for people with sickle cell disease who have had some pain crises in the past year. The goal is to see if it reduces these crisis episodes.
Birmingham, AlabamaAges 12 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,863 recruiting medical genetics studies from the U.S. registry right now, out of 5,730 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.