Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- 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
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT06325644Recruiting
Ketogenic diet for polycystic kidney disease
This study tests whether a ketogenic diet can slow the progression of polycystic kidney disease in adults who are at risk for rapid decline. You'll follow a carefully planned low-carb, high-fat diet to see if it helps protect your kidneys.
Columbus, OhioAges 18–65 - NCT06335862Enrolling by invitation
Surgery to stop windpipe collapse in babies with esophageal atresia
This trial tests a surgery called posterior tracheopexy to prevent the windpipe from collapsing in babies with esophageal atresia and tracheomalacia. It may help your child breathe more easily.
RotterdamAges 8 months+ - NCT06335524Recruiting
Helping preterm babies learn: a parent-baby program
This study tests a program to help parents support their preterm baby's early thinking and learning skills. It may help your baby's brain development during this important time.
Birmingham, AlabamaAges 1 week–4 months - NCT06319872RecruitingPhase 1
Study of disulfiram for vision in retinal degeneration
This trial tests whether disulfiram, a drug used for alcohol use disorder, can improve vision in people with retinal degeneration. You must have an alcohol use diagnosis and agree to avoid alcohol for 6 months.
Rochester, New YorkAges 18 years+ - NCT06333041RecruitingPhase 2/Phase 3
CBD study for Sanfilippo syndrome
This study tests whether a cannabis-derived medicine called cannabidiol (CBD) can help children with Sanfilippo syndrome, a rare genetic disorder. It may be a good fit for children who have already tried other treatments or whose disease is more advanced.
Torrance, CaliforniaAges 4 years+ - NCT06330324Enrolling by invitation
Reproductive choices for genetic skin conditions
This study looks at the choices families have when they carry a genetic skin condition. It aims to learn more about how prenatal testing and IVF with genetic testing can help.
Maastricht, LimburgAges Any age - NCT06089421Recruiting
Genetic information assistant for cancer risk testing
This study tests a tool called GIA (Genetic Information Assistant) that helps people understand genetic testing for cancer risk. You would use the tool on a smartphone or computer during a genetic counseling session.
Charlottesville, VirginiaAges 18 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 - NCT06313398RecruitingEarly Phase 1
Measuring red blood cell lifespan in sickle cell disease
This study uses a harmless vitamin (biotin) to label your red blood cells and track how long they survive. It aims to understand how different blood disorders affect red blood cell lifespan, which may help improve treatments.
Bethesda, MarylandAges 18–100 - NCT06298071RecruitingPhase 1
Peguricase with methotrexate for uncontrolled gout
This early-phase trial tests a new injectable medication (Peguricase) combined with methotrexate to lower uric acid in people with gout that standard pills haven't controlled. You would first take a low dose of methotrexate to check your tolerance, then receive Peguricase infusions while stopping your usual gout medications.
Bengbu, AnhuiAges 18–70 - NCT06302348RecruitingPhase 3
Sepiapterin study for phenylketonuria
This study tests a new medicine called sepiapterin to see if it can help control blood phenylalanine levels in people with PKU. The trial aims to find a safe and effective dose for different age groups.
Indianapolis, IndianaAges Up to 9 years - NCT06305234Recruiting
Long-term immune response study for Palynziq PKU treatment
This long-term study checks how the immune system reacts to Palynziq (a treatment for PKU) over time. It involves extra blood tests for people already in another PKU study called 165-501.
Aurora, ColoradoAges Any age - NCT06311682RecruitingPhase 3
Testing a new shot plus steroid cream for children with eczema
This study tests an investigational shot (tralokinumab) plus a steroid cream for children with moderate-to-severe eczema that hasn't been controlled by creams alone. It aims to see if the combination is safe and works better than the cream alone.
Birmingham, AlabamaAges 6 months–11 years - NCT06300307RecruitingPhase 1/Phase 2
Study of ATX-01 for Myotonic Dystrophy Type 1
This trial tests an experimental drug called ATX-01 for people with myotonic dystrophy type 1 (DM1), a condition that causes muscle weakness and stiffness. The study aims to see if ATX-01 can help reduce symptoms like muscle stiffness (myotonia) and improve daily function.
Los Angeles, CaliforniaAges 18–64 - NCT06312189Enrolling by invitationPhase 3
Long-term safety study of valbenazine for Huntington's chorea in Canada
This study is for people in Canada who have already been taking valbenazine for Huntington's chorea in a previous study (NBI-98854-HD3006). It tests the long-term safety of the medicine and continues for up to 156 weeks.
Vancouver, British ColumbiaAges 18 years+ - NCT06303986Enrolling by invitation
Observation study for newborns with or without NAS
This study is collecting information from two groups of newborns: those with Neonatal Abstinence Syndrome (NAS, caused by drug exposure before birth) and healthy newborns. The goal is to see if an automated system makes it easier to gather data without extra tests or procedures.
Albuquerque, New MexicoAges Up to 4 weeks - NCT06298630Recruiting
Long-term study of BRL-101 for transfusion-dependent beta-thalassemia
This study follows patients who have already been treated with BRL-101 for transfusion-dependent beta-thalassemia. Its goal is to track long-term outcomes and safety.
Guangzhou, GuangdongAges 3–35 - NCT06315556Recruiting
Study of Eylea for preterm babies with retinopathy of prematurity in the UK
This study collects information on how the medicine Eylea is given to preterm babies with retinopathy of prematurity (an eye problem in premature infants) using a special dosing device. The goal is to see how the treatment works in everyday hospital care.
Multiple LocationsAges Up to 1 year - NCT06315933Recruiting
Anesthesia and brain development in children with congenital scoliosis
This study looks at how anesthesia (medicine used to put children to sleep during surgery) may affect the brain development of children with congenital scoliosis. It will help doctors understand how to make anesthesia safer for children with this condition.
Beijing, Beijing MunicipalityAges 6–16 - NCT06301893Recruiting
Sickle cell surveillance study in Uganda
This study collects blood samples from up to 1 million people in Uganda to learn more about sickle cell disease. It helps doctors understand how common it is and how to better care for those affected.
KampalaAges Up to 1 year - NCT06300502Enrolling by invitationPhase 1
Monthly injections for NF1 skin bumps
This study tests if a monthly injection of deoxycholate can shrink or reduce the number of visible skin bumps (cutaneous neurofibromas) in people with NF1. It is designed for adults with at least 6 bumps that can be treated and monitored.
Boston, MassachusettsAges 18–85 - NCT06315348Recruiting
Gum shaping during braces with a vibration tool
This trial tests a new, less invasive surgical technique (using a special tool that vibrates, not a scalpel) to help reshape the gums while straightening teeth with braces. It is for people who need braces for mild to moderate crowding and have healthy gums.
MadridAges 16–70 - NCT06300697Recruiting
Food allergy and eczema study at University of Michigan
This study looks at how food allergies and eczema (atopic dermatitis) are related. You will have an oral food challenge (eating a small amount of a possible allergen in a safe setting) and give blood and skin samples to help researchers learn more.
Ann Arbor, MichiganAges 10–55 - NCT06296394Recruiting
Health outcomes for new parents with cystic fibrosis
This study looks at the health of parents with cystic fibrosis who have recently become a first-time parent to a young child. It aims to understand how parenting affects their health.
Birmingham, AlabamaAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.