Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease38
- Hemophilia A38
- 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 Cancer Institute (NCI)23
Where studies are running
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT05067868RecruitingPhase 4
Replagal for Fabry disease in children and adults in India
This trial studies Replagal (enzyme replacement therapy) for people with Fabry disease who have not used it before. It aims to see how the treatment works and how safely it can be used in children and adults.
KolkataAges Any age - NCT05071222RecruitingPhase 1/Phase 2
Gene therapy trial for Artemis SCID using modified blood cells
This trial tests whether gene therapy can safely and effectively treat children with a specific type of severe combined immunodeficiency (SCID) caused by an Artemis gene problem. It uses the patient’s own stem cells, modifies them to add a missing gene, and then returns them after chemotherapy to help the new cells work.
ParisAges Up to 3.9 years - NCT05072626Recruiting
Special fat formula for babies after biliary atresia surgery
This trial tests whether a special nutritional support formula rich in medium-chain fats can help infants with biliary atresia after the Kasai procedure. It may support feeding and liver recovery during the early months after surgery.
Shanghai, Shanghai MunicipalityAges Up to 3 months - NCT05081115Recruiting
Stress echo imaging for people with heart valve or muscle issues
This trial studies a stress echocardiogram (an ultrasound of the heart during stress) to better understand and improve future heart imaging. It may help by comparing how well the test works for different heart conditions.
BeneventoAges 18–75 - NCT05081258Recruiting
Tests presurgery shaping for newborn cleft lip and palate growth
This study looks at whether a presurgery orthodontic shaping method affects how newborns with a cleft lip and palate grow over time. It may help clinicians decide on the best early treatment approach.
Erlangen, BavariaAges 1 day–2 years - NCT05088798RecruitingPhase 2
PET/MRI scan to help plan surgery for hyperinsulinism
This Phase 2 study uses special PET/MRI imaging to better understand a cause of hyperinsulinemic low blood sugar and guide whether surgery may help. It may help doctors choose the safest plan to reduce severe episodes and protect the brain.
St Louis, MissouriAges Any age - NCT05092685RecruitingPhase 1/Phase 2
Gene therapy trial for children with OTC ammonia build-up
This early-phase study tests an AAV gene therapy meant to reduce ammonia levels in children with ornithine transcarbamylase (OTC) deficiency. It’s designed to slow or stop ammonia-related harm, while also carefully monitoring safety for years.
LondonAges birth–16 years - NCT05097820Recruiting
Study of silicone gel testicular implants after placement
This is an observational study that follows people who receive silicone gel-filled testicular implants. It aims to collect real-world information about safety and healing to help improve future care.
Ghent, East-FlandersAges birth–110 years - NCT05098665Recruiting
Home monitoring to help prevent hospital stays for ATTR heart disease
This trial tests whether using home weight/health tracking can help people with ATTR cardiomyopathy avoid going to the hospital. It may help by catching fluid build-up or worsening earlier so treatment can be adjusted sooner.
London, LondonAges 18 years+ - NCT05099315Recruiting
Gut microbiome study in adults with severe eczema
This trial studies the gut microbiome in people with moderate to severe atopic dermatitis (eczema) who are starting or already receiving systemic (whole-body) treatment. It may help researchers understand what changes in gut bacteria are linked to eczema and to treatment response.
Berlin, State of BerlinAges 18 years+ - NCT05098821Recruiting
Study factors that affect eczema control on dupilumab
This trial studies why eczema (“atopic dermatitis”) varies in severity even when people receive the medicine dupilumab. It may help doctors better predict who responds well and how to monitor treatment.
BerlinAges 18–75 - NCT05099874Recruiting
Computer training to improve attention in sickle cell disease
This trial tests whether a computer-based “attention control” training program can improve attention and daily functioning in children with sickle cell disease. To join, you must meet certain criteria and also pass an initial attention screening test during the study.
Washington D.C., District of ColumbiaAges 8–16 - NCT05099939Recruiting
Monitoring sugar changes in adults with cystic fibrosis
This study uses continuous glucose monitoring (a sensor that checks blood sugar trends) to understand how sugar handling changes over time in people with cystic fibrosis. It may help doctors spot early “pre-diabetes” or abnormal sugar patterns sooner.
Montreal, QuebecAges 18 years+ - NCT05100693Recruiting
FETO balloon removal during pregnancy for diaphragm hernia
This trial studies “smart removal” of a balloon placed in the womb to treat a baby’s congenital diaphragmatic hernia (CDH). It aims to see if removing the balloon in a planned, safer way can improve outcomes for the baby and keep mothers safe.
LeuvenAges 18 years+ - NCT05101304Recruiting
European registry for people with amyloidosis
This study collects health information from people who may have amyloidosis or who already have a confirmed diagnosis. It aims to better understand amyloidosis in real-world care across European centers, which can help future patients and treatments.
CréteilAges Any age - NCT05104983RecruitingPhase 2
Sirolimus to prevent first seizures in babies with TSC
This Phase 2 study tests whether sirolimus (a targeted medicine) can stop or slow the start of seizures in very young babies diagnosed with tuberous sclerosis complex (TSC). If seizures are prevented early, it may also help protect early brain development.
Birmingham, AlabamaAges 1 day–6 months - NCT05109936RecruitingPhase 3
Febuxostat given right away versus later for gout flare
This Phase 3 study compares starting febuxostat immediately during a gout flare versus delaying the start. It aims to see which timing helps control gout better and safely.
CaenAges 18 years+ - NCT05112211Recruiting
Imaging study of doxycycline in thyroid eye disease
This study looks at how doxycycline (an antibiotic) affects thyroid eye disease using special imaging pictures. It may help doctors better understand disease activity and how well treatments work.
Guangzhou, GuangdongAges 18–70 - NCT05112237Recruiting
Study of children’s heart disease caused by MYBPC3 gene changes
This is an observational study that follows children under 18 with cardiomyopathy caused by certain MYBPC3 gene mutations. It aims to better understand how the disease changes over time, which may help future treatments be better targeted.
Little Rock, ArkansasAges birth–18 years - NCT05116904Recruiting
Sleep and eye-movement study in Smith-Magenis autism
This study looks at sleep and certain eye/vision reflexes in children who have Smith-Magenis syndrome and autism. The goal is to better understand sleep-related differences and how they may be measured using a safe eye-reflex test.
BronAges 5–12 - NCT05122962Recruiting
MRI study of heart rhythm and exercise capacity after congenital surgery
This study looks at how blood flow and heart rhythm may affect exercise ability in people born with certain heart defects that have been repaired or treated. It uses a specialized heart MRI and ultrasound measurements to better understand these problems and their causes.
Rochester, MinnesotaAges 18 years+ - NCT05126147RecruitingPhase 4
Hydroxychloroquine for mild Graves’ eye swelling
This trial studies whether hydroxychloroquine can improve mild Graves’ orbitopathy (swelling and discomfort around the eyes). It’s meant for people with mild symptoms and who haven’t recently used certain eye or immune treatments.
HsinchuAges 18–75 - NCT05126810Recruiting
Standard versus personalized counseling for TP53 test results
This trial compares standard genetic counseling with a more personalized approach for people considering or receiving TP53 genetic testing. It may help by seeing which counseling style better supports you before and after testing for a TP53 inherited change.
Houston, TexasAges Any age - NCT05128149Recruiting
PKU care guidelines and how they affect daily well-being
This study looks at whether following specific care guidelines for phenylketonuria (PKU) leads to better metabolic control (blood phenylalanine levels) and better patient well-being. You may be asked to complete questionnaires and follow the study plan while receiving the usual PKU treatment your clinic recommends.
ZurichAges 10 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.