Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,767 recruiting studies in this area right now.
By phase
- Not applicable2,684
- Phase 2280
- Phase 1241
- Phase 3210
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)38
- Duchenne Muscular Dystrophy36
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)29
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
- Children's Hospital of Philadelphia23
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
Where studies are running
- California324
- Maryland160
- Alabama133
- Massachusetts108
- Arizona87
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,767 total
- NCT06063850RecruitingPhase 1/Phase 2
Gene therapy for adults with hard-to-control epilepsy
This trial tests a one-time gene therapy (AMT-260) for adults whose seizures start in one area of the brain (the temporal lobe) and aren't controlled by medication. The goal is to see if it's safe and reduces seizure frequency.
Birmingham, AlabamaAges 18–75 - NCT06079398RecruitingPhase 2
Weekly injection for infants with achondroplasia
This trial tests a new weekly injection called TransCon CNP for infants with achondroplasia (the most common form of dwarfism). The goal is to see if it can help children grow better than a placebo (a shot with no medicine).
Saint Paul, MinnesotaAges birth–2 years - NCT03920774Recruiting
Study of Familial Dysautonomia in People With IKBKAP Changes
This study looks at how familial dysautonomia (FD) progresses over time in people who have a confirmed IKBKAP genetic change. It may help doctors better understand the condition and plan future treatments.
New York, New YorkAges 4 years+ - NCT06075251Recruiting
Online support for parents of kids with heart conditions
This study provides an online support program for parents or caregivers of children (ages 3 to 9) who have a congenital heart condition (a heart problem present at birth). The goal is to help you and your child cope and thrive, and you can join from home if you live in Ontario.
Toronto, OntarioAges 3–9 - NCT06056908Recruiting
Shwachman Diamond Syndrome Registry and Study
This study is creating a registry for people with Shwachman-Diamond Syndrome (SDS) or similar conditions, and their family members. It aims to learn more about the condition and improve care by collecting health information over time.
Aurora, ColoradoAges Any age - NCT06071377Recruiting
Learning About Health in People With Sickle Cell Trait
This study is for adults who have or might have sickle cell trait (carrying the sickle cell gene but not the disease). It aims to understand the health effects of sickle cell trait over time by following participants and collecting health information.
Birmingham, AlabamaAges 18 years+ - NCT06058819Recruiting
New blood test to guide antibiotic use in newborns
This study is testing a new blood test to see if it can help doctors decide when to use antibiotics for newborns who may have a late-onset infection. The goal is to reduce unnecessary antibiotic use.
BronAges 1 week–2 weeks - NCT06075693Recruiting
Spinal fluid markers for myotonic dystrophy
This study looks for markers in spinal fluid that could help doctors better understand myotonic dystrophy type 1 (DM1). It involves a spinal tap and MRI scan. It may help people with DM1 and healthy volunteers learn more about the condition.
Boston, MassachusettsAges 18 years+ - NCT06072976Recruiting
How feeding affects gut health in babies with bowel conditions
This study looks at whether breast milk or formula helps babies with certain bowel problems heal faster and reach full feeds sooner. It compares how different milk affects the bacteria in a baby's gut.
Seattle, WashingtonAges birth–55 years - NCT06069479Recruiting
Surgery vs. watching: study for kids with trigonocephaly
This study compares two approaches for children with trigonocephaly (a condition where the skull has a triangular shape): surgery or careful monitoring without surgery. The goal is to understand which approach leads to better clinical results, emotional well-being, and lower costs.
RotterdamAges Up to 8 years - NCT06080074RecruitingPhase 2
Emergency heart-lung machine study for children with severe heart failure
This study tests a specific heart-lung machine called Cardiohelp to help children with severe heart failure. It looks at how well the machine works and whether a blood thinner (either heparin or bivalirudin) is safer and more effective.
Palo Alto, CaliforniaAges birth–16 years - NCT06072495Recruiting
Understanding Why Some Cleft Palate Repair Patients Have Ongoing Speech Issues
This study uses special MRI scans to help doctors understand why some children who had cleft palate surgery still have difficulty with certain speech sounds. By looking at how the muscles in the back of the throat work, researchers hope to improve future surgical techniques and speech outcomes.
AmiensAges 7–12 - NCT06072079Enrolling by invitation
Structural chromosome changes and brain disorders
This trial is for people who have or might have a rare disease or a change in their chromosomes. The study aims to learn more about how these changes relate to brain disorders.
StockholmAges Any age - NCT06057714Recruiting
MRI study of airway function in cystic fibrosis
This study uses a special MRI technique (19F MRI) to look at how well your lungs are working and where any blockages are. The goal is to understand airway problems in cystic fibrosis better.
Chapel Hill, North CarolinaAges 18–99 - NCT02143830RecruitingPhase 2
Stem cell transplant chemotherapy for Fanconi anemia
This Phase 2 study tests a stem cell transplant approach using adjusted chemotherapy doses for people with Fanconi anemia. It may help replace damaged bone marrow and treat blood problems like severe aplastic anemia, MDS, or leukemia.
New York, New YorkAges 3 months+ - NCT05210114Recruiting
Skin hydration study in people with sickle cell
This study looks at how hydrated your skin is in people with sickle cell disease. It aims to better understand skin-related changes, which may help doctors monitor health and treatments in the future.
Pittsburgh, PennsylvaniaAges 12 years+ - NCT03723564RecruitingPhase 1
Serial amnioinfusions for severe fetal kidney underdevelopment
This Phase 1 study tests whether repeatedly adding fluid into the amniotic sac (amnioinfusion) can help babies with very severe kidney problems before birth. The goal is to see if this “regenerative therapy” is safe and potentially beneficial, while closely tracking pregnancy and baby outcomes.
Rochester, MinnesotaAges Any age - NCT00792155Recruiting
Register people with diagnosed ADPKD to build a kidney data resource
This trial builds a secure database by collecting information from adults who already have autosomal dominant polycystic kidney disease (ADPKD). Your information can help researchers understand the condition better and improve future care.
New York, New YorkAges 18 years+ - NCT03797183Recruiting
Check heart and lung function using a painless chest scan
This study uses a noninvasive scan that measures electrical signals across the chest to better understand breathing and heart-related circulation problems. It may help doctors learn what to monitor and how conditions like lung/airway pressure and vessel narrowing progress.
Aurora, ColoradoAges 2 weeks–40 years - NCT05704036RecruitingPhase 4
Estrogen use and bone health in women with cystic fibrosis
This observational study looks at how taking (or not taking) estrogen affects bone health in women with cystic fibrosis (CF). If you may have low estrogen, it also explores whether estrogen levels and symptoms relate to bone density over time.
Baltimore, MarylandAges birth–100 years - NCT04422847Recruiting
3D printed tools to help anesthesia for children with cleft face
This study uses computer planning and 3D printed models to help the anesthesia team manage breathing and airway safety during a child’s cleft-related surgery. It may improve planning and safety by matching the anesthesia plan to your child’s anatomy.
Brno, Jihomoravská KrajAges Up to 2 years - NCT06050369Recruiting
Study of repetitive behaviors in OCD and Tourette syndrome
This study looks at repetitive behaviors in people with OCD or Tourette syndrome. It uses MRI scans to understand the brain, and aims to help improve treatments for these conditions.
CréteilAges 15–65 - NCT06036693Recruiting
MPS Long-Term Study
This study follows people with MPS, a rare genetic condition, to learn more about the disease over time. If you have a confirmed MPS diagnosis, you may be able to join.
AngersAges Any age - NCT06056297RecruitingPhase 3
Study of Mavorixafor for chronic neutropenia with infections
This trial tests if mavorixafor can help people with certain types of long-term low neutrophil counts (chronic neutropenia) who still get frequent or serious infections. It aims to reduce infection risk by boosting your body's infection-fighting cells.
Phoenix, ArizonaAges 12 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,767 recruiting medical genetics studies from the U.S. registry right now, out of 5,497 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.