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
- NCT07133789Recruiting
Better understanding chromosome changes in children with developmental disorders
This study uses a new technique called optical mapping to better understand chromosome changes found in children with neurodevelopmental disorders. It aims to give clearer answers to families about these genetic findings.
Paris, ParisAges 2 years+ - NCT07131293Recruiting
European registry study on lymphatic treatments
This study is for people of any age with a confirmed central lymphatic disorder (a problem in the main lymphatic vessels, often linked to heart conditions or occurring on its own). Researchers want to collect information from different hospitals to learn more about these disorders and the best ways to treat them.
CopenhagenAges Any age - NCT07126470Recruiting
Ring for better lens placement in RP cataract surgery
This trial tests whether using a capsular tension ring (a small support ring) during cataract surgery helps keep the artificial lens more stable in people with retinitis pigmentosa (RP) and cataracts. It may reduce lens shifting after surgery.
Guangzhou, GuangdongAges 18 years+ - NCT07134387Recruiting
Long-term effects of BPD on family quality of life
This study looks at how bronchopulmonary dysplasia (BPD), a lung condition in premature babies, affects the long-term health and quality of life of children and their families. Parents or caregivers of children born early with or without BPD can join to compare experiences.
München, BavariaAges birth–18 years - NCT07133464Recruiting
CDH1 gene and BCDS syndrome registry
This registry studies people with changes in the CDH1 gene who may have blepharocheilodontic syndrome (BCDS). It collects information to better understand the condition and improve care.
Columbus, OhioAges Any age - NCT02986087Recruiting
FETO balloon procedure for severe congenital diaphragmatic hernia
This trial studies a fetal procedure called FETO (placing a small balloon in the baby’s windpipe) to help severe congenital diaphragmatic hernia babies develop better lungs before birth. It may help some babies whose scans suggest very limited lung growth, but it requires specific timing and pregnancy conditions.
Cincinnati, OhioAges 18–50 - NCT06342752Recruiting
Breath test for early lung disease in premature babies
This trial studies a breath test to predict lung disease in very premature babies. It could help doctors start treatment earlier to prevent serious breathing problems.
Edegem, AntwerpAges birth–3 days - NCT07118280Recruiting
Oral health and saliva study in OPMD patients and families
This study looks at the mouth health and saliva of people with OPMD and their household members. By understanding saliva changes, researchers hope to learn more about the disease and find ways to help manage symptoms.
Ramat GanAges 18 years+ - NCT07124377Recruiting
Study of hereditary ATTR amyloidosis symptoms
This study looks at how a specific genetic change (Val50Met) affects people with hereditary ATTR amyloidosis. It may help doctors better understand the condition and its symptoms.
Charata, Chaco ProvinceAges 20 years+ - NCT07124312Recruiting
Placenta study for identical twin pregnancies
This trial studies the placentas of identical (monochorionic) twin pregnancies to learn more about their structure and health. Participation involves donating the placenta after birth for analysis.
Birmingham, West MidlandsAges Any age - NCT07123155RecruitingPhase 2
Testing a new add-on treatment for late-onset Pompe disease
This trial tests a new medication, S-606001, given alongside your current enzyme replacement therapy (ERT) for late-onset Pompe disease. It may help improve your breathing and walking ability.
Irvine, CaliforniaAges 18 years+ - NCT07125066Enrolling by invitationPhase 1
Testing ACER-001 for combined D,L-2 hydroxyglutaric aciduria
This trial tests a drug called ACER-001 in a single patient with a rare metabolic disorder. The goal is to see if the drug helps manage symptoms.
Pittsburgh, PennsylvaniaAges Any age - NCT07118631Recruiting
Emergency surgery for bleeding brain blood vessel malformation
This study tests emergency surgery for patients with bleeding from a brain blood vessel malformation (AVM). It aims to see if urgent surgery can help people with this type of stroke.
BeijingAges 18–70 - NCT07122505Recruiting
Mouth muscle therapy for sleep apnea in kids with Down or Prader-Willi syndrome
This study tests a therapy that strengthens mouth and tongue muscles to help children with Down or Prader-Willi syndrome who have mild obstructive sleep apnea. It aims to improve breathing during sleep without surgery or machines.
GhentAges 4–18 - NCT07115654RecruitingPhase 2
A bispecific antibody trial for POEMS syndrome
This trial tests a new drug, BCMA/CD3 bispecific antibody, for people with POEMS syndrome. The drug helps the immune system attack abnormal plasma cells that cause the disease. It may offer a new treatment option for those who haven't had prior anti-plasma cell therapy.
TianjinAges 18–78 - NCT07125040Recruiting
Understanding LAMA2 muscle disease over time
This study follows people with LAMA2-related muscular dystrophy (a genetic muscle-weakening condition) to learn how it changes over time and find better ways to measure it. By participating, you help researchers identify new disease markers that could improve future treatments.
MilanAges Any age - NCT07116772Recruiting
Fertility experiences in sickle cell anemia
This study looks at fertility in people with sickle cell anemia. It aims to understand how the disease and its treatments affect fertility over time.
Santo DomingoAges 8 years+ - NCT07124572Recruiting
Building a Better Diagnosis System for Thyroid Eye Disease
This study aims to build a better system for diagnosing and treating thyroid-associated ophthalmopathy (a thyroid eye condition). It may help improve care for people with this disease, and also involves healthy volunteers as a comparison group.
Hangzhou, ZhejiangAges 7–90 - NCT07120971RecruitingEarly Phase 1
Metformin study for premature babies with lung disease
This study tests whether metformin, a medicine used for diabetes, can help premature babies with chronic lung disease (bronchopulmonary dysplasia, or BPD) breathe better. It may reduce the need for breathing machines.
Milwaukee, WisconsinAges 1 week–6 months - NCT06676345Recruiting
Heart Attack Complications Study
This study looks at people who have had a heart attack and developed a related structural problem in the heart (like a tear or valve issue). It aims to learn more about these complications to improve future care.
VareseAges 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 - NCT07113262RecruitingPhase 3
Study of IBI311 for people with inactive thyroid eye disease
This trial tests a new medication called IBI311 for people whose thyroid eye disease is no longer active but still causes bulging eyes. It aims to see if the drug can reduce eye bulging safely.
Shenyang, LiaoningAges 18–80 - NCT07114718Recruiting
Stent for babies with heart defect needing extra blood flow
This trial tests a special stent for babies with a heart defect that needs a temporary blood vessel to stay open. The stent is placed to help blood flow to the lungs until the baby can have a more permanent surgery.
Los Angeles, CaliforniaAges 1 minute–6 months - NCT07115004RecruitingPhase 3
Testing an injectable drug for von Willebrand disease
This trial tests a new drug called VGA039 that is injected under the skin to prevent bleeding episodes in people with von Willebrand disease. It is for those who bleed frequently and are not currently using regular preventive treatments.
Little Rock, ArkansasAges 12–75
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.