Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,771
- Phase 2284
- Phase 1235
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis128
- Congenital Heart Disease86
- 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
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT06325280Recruiting
Exercise MRI for Kids with Heart Conditions
This study uses an MRI while exercising to check heart and lung fitness in children with heart disease. It helps doctors learn more about how to care for kids who have had a heart transplant or were born with heart problems.
Edmonton, AlbertaAges 10–18 - NCT06325488Recruiting
Kidney Health Study in Fabry Disease
This study uses MRI scans to look at how Fabry disease affects the kidneys, including scarring, swelling, and oxygen levels. It may help researchers understand kidney problems better and find new ways to monitor the disease.
CopenhagenAges 18 years+ - 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 - NCT06325618Recruiting
Studying lymphedema and blood vessels in Turner syndrome
This study looks at swelling (lymphedema), inflammation, and blood vessels in women with Turner syndrome. It uses MRI scans to understand these issues better.
Aarhus NAges 18–100 - NCT06401538RecruitingPhase 2
BMB-101 for absence epilepsy and DEE
This trial tests a new drug called BMB-101 for people with absence epilepsy (including Jeavons syndrome) or developmental epileptic encephalopathies (DEE) like Dravet or Lennox-Gastaut. It aims to see if the drug can reduce seizure frequency and is safe.
Randwick, New South WalesAges 18–65 - NCT04143724RecruitingPhase 2
Luspatercept for children with beta-thalassemia
This study tests a medicine called luspatercept to see if it safely helps children with beta-thalassemia need fewer blood transfusions or keep their hemoglobin levels stable. It is for children aged 6 to 17 who either get regular transfusions or have low hemoglobin and few transfusions.
Los Angeles, CaliforniaAges 6–17 - NCT06560242Recruiting
Tracking early sound perception in Fragile X syndrome
This study uses safe brain monitoring (fNIRS and EEG) to see how infants with Fragile X syndrome process sounds compared to other infants. The goal is to find early signs of hearing or perception issues.
Cincinnati, OhioAges 6 months–2.2 years - NCT06998524RecruitingPhase 3
Testing emicizumab for type 3 von Willebrand disease
This study tests whether emicizumab can help prevent or treat bleeding episodes in people with type 3 von Willebrand disease, a rare and severe bleeding disorder. It may offer a new option for those who have not had good control with standard treatments.
Sacramento, CaliforniaAges 1 month+ - NCT07523581RecruitingPhase 2
Exaluren for Alport Syndrome Kidney Disease
This study tests whether a new medication called exaluren can slow kidney damage in people with Alport Syndrome caused by specific genetic mutations. Alport Syndrome is a genetic condition that damages the kidneys, and this trial aims to see if exaluren can help preserve kidney function and reduce protein loss in urine.
Los Angeles, CaliforniaAges 12 years+ - NCT06328608RecruitingPhase 2/Phase 3
PRX-102 for children with Fabry disease
This study tests a new enzyme replacement therapy called PRX-102 for children with Fabry disease. It aims to see if the drug is safe and helps manage symptoms like pain and eye or skin changes.
Phoenix, ArizonaAges 2–17 - NCT06328712RecruitingPhase 1/Phase 2
Cell therapy for Charcot-Marie-Tooth type 1A (CMT1A)
This trial tests a new cell therapy called EN001 for people with CMT1A. It aims to see if the treatment is safe and can help with nerve function and muscle weakness.
GyeongjuAges 19 years+ - NCT06330350Recruiting
Talking about family planning for genetic skin conditions
This study interviews people with inherited skin conditions (genodermatoses) who want to have children, and the doctors who care for them. The goal is to learn how to better support family planning decisions, like counseling about genetics and pregnancy risks.
Maastricht, LimburgAges Any age - NCT06330441Recruiting
Pancreatic cancer screening for high-risk groups
This study screens people at high risk for pancreatic cancer using imaging tests. It aims to catch cancer early in those with certain genetic conditions or strong family history.
BrnoAges 18 years+ - NCT06332807RecruitingPhase 1/Phase 2
Gene therapy trial for classic PKU
This trial tests a one-time gene therapy called NGGT002 for adults with classic PKU who cannot take or do not respond well to current treatments. The goal is to see if it can safely lower blood phenylalanine levels.
Orange, CaliforniaAges 18–55 - 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+ - NCT06333067Recruiting
Ultrasound treatment for lifting sagging skin and wrinkles
This study tests a new ultrasound device to lift sagging facial skin and reduce wrinkles. It is for people who want a non-surgical option to tighten their face and neck.
La Mesa, CaliforniaAges 35–80 - 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 - NCT06336044Recruiting
Facial filler trial with hyaluronic acid and collagen
This trial tests a new injectable filler made from hyaluronic acid and recombinant collagen to smooth wrinkles and add volume. It may help people who want a non-surgical option for facial rejuvenation.
RomaAges 18–70 - NCT06336369Recruiting
Brown fat activity in Gilbert's syndrome
This study looks at brown fat activity in people with Gilbert's syndrome, a harmless condition that causes slightly high bilirubin levels. It compares them to people without the condition to see if the extra bilirubin affects brown fat, which may help with weight and metabolism.
ViennaAges 18–65 - NCT06336733RecruitingPhase 3
Trial of anakinra for FMF attacks in patients who refuse daily shots
This trial tests if taking anakinra (a targeted medicine) only when you have a painful FMF attack can help, instead of taking it every day. It is for people with Familial Mediterranean Fever (FMF) whose attacks continue despite taking colchicine, and who do not want daily injections.
ParisAges 6 years+ - NCT06337864Recruiting
Large neutral amino acids for adults with classical PKU
This study tests whether a specific mix of large neutral amino acids (LNAAs) can help adults with classical PKU by lowering phenylalanine levels in the brain. It includes an MRI and PET scan to see how the treatment affects brain activity.
CopenhagenAges 18–50 - NCT06338891Recruiting
Can gluten or wheat trigger FMF attacks?
This trial looks at whether foods like gluten or wheat might cause attacks in people with Familial Mediterranean Fever (FMF). If you have FMF, joining could help understand if changing your diet can prevent attacks.
Palermo, SicilyAges 6 months–80 years - NCT06339593RecruitingEarly Phase 1
Using MRI to Monitor CF Lung Health
This study uses MRI scans to monitor lung health in teens and young adults with cystic fibrosis who are taking Trikafta. It aims to find better ways to track how the disease affects the lungs over time.
Cincinnati, OhioAges 12–21 - NCT06340685RecruitingPhase 1
Triheptanoin for children with PDC deficiency
This trial tests an oil called triheptanoin for children with a rare genetic condition (PDCD) that affects how their bodies use energy. The study aims to see if triheptanoin can help improve their health.
Pittsburgh, PennsylvaniaAges 1–17
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,764 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.