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
- NCT06657859Enrolling by invitationPhase 2
Extended study of GLM101 for PMM2-CDG patients
This study is for people who already completed a previous trial of GLM101 for PMM2-CDG. It offers continued access to the treatment while doctors monitor safety and effects.
Minneapolis, MinnesotaAges 2 years+ - NCT06663358Recruiting
Safety and effectiveness of Elfabrio in Fabry disease patients
This study is for people with Fabry disease who are taking or planning to take the medication Elfabrio (pegunigalsidase alfa). It will look at how safe and effective the treatment is in real-world use.
Birmingham, AlabamaAges 18 years+ - NCT06662188RecruitingPhase 1/Phase 2
Gene therapy for children with SHANK3-related condition
This trial tests a gene therapy called JAG201 for children with a SHANK3 mutation or 22q13.3 deletion, which causes Phelan-McDermid syndrome. The goal is to see if it can help with development and daily function.
Chicago, IllinoisAges 2–9 - NCT06666777Recruiting
Speech therapy and parenting for early communication skills
This study tests a program that combines speech therapy with parenting support to help young children with developmental delays improve their communication and social skills. It is designed for children aged 6 months to 5 years who have developmental challenges, and their parents.
Como, ComoAges 6 months–4.9 years - NCT06664541Enrolling by invitation
Gene therapy decisions and quality of life
This study looks at how people with blood diseases and their families make decisions about gene therapy, and how it affects their quality of life. It involves interviews or surveys to understand your experience.
Washington D.C., District of ColumbiaAges 18 years+ - NCT06669000Recruiting
How long to dissolve gout crystals
This study looks at how long it takes for urate crystals (the cause of gout) to dissolve in the body. It may help if you have gout, are not on uric acid-lowering medicine, and have higher uric acid levels.
ParisAges 18 years+ - NCT06665997RecruitingPhase 4
Depot shot for pain in women with sickle cell disease
This study tests if a hormone shot (depot medroxyprogesterone acetate) can help reduce pain episodes in women with sickle cell disease. It aims to see if the shot improves pain and markers of inflammation.
Atlanta, GeorgiaAges 18–50 - NCT06666816Recruiting
Watching changes in walking for muscle and nerve diseases
This study watches how people with certain muscle or nerve diseases walk over time. It may help doctors understand changes in walking patterns and is open to adults who can walk and have a genetic diagnosis of a neuromuscular condition.
Bosisio Parini, LeccoAges 18–75 - NCT06664866Enrolling by invitation
AI Screening for Heart Amyloidosis
This trial tests an AI program that looks at your heart ultrasound (echocardiogram) to find possible signs of cardiac amyloidosis early. It helps doctors decide if more testing is needed.
Los Angeles, CaliforniaAges 22 years+ - NCT05329935Recruiting
Registry for children with congenital thymus missing
This registry follows children born with congenital athymia (a missing or non-working thymus). It collects information around treatment with RETHYMIC, which may help researchers better understand how care and outcomes look over time.
Durham, North CarolinaAges birth–21 years - NCT06650813Recruiting
Adapting a fatigue program for sickle cell disease
This trial adapts the FACETS program, a fatigue-management course, for people with sickle cell disease. It aims to help participants better cope with fatigue and improve daily life.
GrenobleAges 18 years+ - NCT06648044Recruiting
Finding new treatments for kidney ciliopathies
This study aims to find new treatment targets for nephronophthisis and related kidney ciliopathies. Researchers will collect blood and urine samples from people with these conditions, their healthy relatives, and other volunteers to better understand the disease.
La DefenseAges Any age - NCT06650319RecruitingEarly Phase 1
Testing LY-M003 injection for Wilson disease
This study tests an injection called LY-M003 for people with Wilson disease who have already been treated with standard medicines. The goal is to see if it is safe and works for them.
Hangzhou, ZhejiangAges 10–60 - NCT06646640Recruiting
Long-term follow-up for hemoglobin disorder treatments
This study tracks people with sickle cell disease or thalassemia who have had a bone marrow transplant or gene therapy in the past 15 years. It aims to monitor their health over time to understand long-term effects.
Memphis, TennesseeAges Any age - NCT06651255Recruiting
Algorithm-guided care for bleeding in Von Willebrand disease
This trial tests whether a special algorithm can reduce repeat bleeding from the gut or nose in people with inherited Von Willebrand disease. If you have had serious nosebleeds or digestive bleeding, this study may help find a better way to manage your condition.
Lille, NordAges 18 years+ - NCT06648096RecruitingPhase 1/Phase 2
Testing afatinib for head and neck cancer in Fanconi anemia patients
This trial tests whether the targeted drug afatinib can shrink advanced head and neck cancers in people who also have Fanconi anemia. It is for patients whose tumors cannot be surgically removed and have not responded to or cannot have other standard treatments.
HanoverAges 18 years+ - NCT06647979RecruitingPhase 1
Gene editing for severe sickle cell or thalassemia
This trial tests a new gene therapy that edits your own blood stem cells to help them make more fetal hemoglobin, which can prevent sickling and reduce the need for transfusions. It is for people with severe sickle cell disease or beta thalassemia who do not have a matched sibling donor.
Boston, MassachusettsAges 13–40 - NCT06654752Recruiting
Simpler treatment for lung flare-ups in kids with CF
This study tests a streamlined approach to managing sudden lung symptoms (pulmonary exacerbations) in children with cystic fibrosis. It aims to see if a simpler treatment plan works as well as standard care, which could mean less time in the hospital and fewer disruptions to daily life.
Birmingham, AlabamaAges 3–18 - NCT06651489RecruitingPhase 2
Guselkumab for Hailey-Hailey disease
This study tests the drug guselkumab to see if it can help control Hailey-Hailey disease, a rare skin condition. If you have moderate-to-severe HHD affecting multiple body areas, you may be able to join.
New Haven, ConnecticutAges 18–90 - NCT06649825Enrolling by invitation
Vitamin B1 for familial adenomatous polyposis
This trial tests whether taking vitamin B1 can help people with familial adenomatous polyposis (FAP) reduce the number of polyps in their colon or rectum. It is designed for people who still have most of their bowel and have more than 10 polyps.
Shanghai, Shanghai MunicipalityAges 18–80 - NCT06646250Recruiting
New ultrasound for steady brain monitoring in newborns
This trial uses a new ultrasound device (NeoDoppler) to watch blood flow in a baby's brain continuously. It aims to see if this gentle, bedside tool can help doctors monitor babies—especially those born early or with certain health concerns—without moving them.
TrondheimAges birth–1 year - NCT05740761Recruiting
Gene editing for children with Rett syndrome
This trial tests a gene-editing approach for Rett syndrome in children who have a confirmed MECP2 gene mutation. It may help by targeting specific “hotspot” genetic changes that cause the condition.
Siena, SienaAges 6 months+ - NCT06636344Recruiting
Better care for people with pseudoxanthoma elasticum
This study looks at whether a new way of organizing care helps patients with pseudoxanthoma elasticum (PXE). It also asks some patients about their experience with the new care setup.
AngersAges 6 years+ - NCT06636383Recruiting
A follow-up study for people with GSDIa who received DTX401
This study monitors the long-term health of people with Glycogen Storage Disease Type Ia who have already received the gene therapy DTX401, either in a previous clinical trial or after it was approved. The goal is to gather more information about their condition over time.
Orange, CaliforniaAges 2 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.