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 Disease84
- 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
- California325
- Maryland160
- Alabama133
- Massachusetts107
- Arizona88
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT03382158Recruiting
Learn about DICER1-related tumors through a patient registry
This registry collects information about people with known or suspected DICER1-related conditions, including certain rare chest and other tumor types. It helps doctors and researchers understand these conditions better and may support future studies.
Minneapolis, MinnesotaAges birth–100 years - NCT04535349Recruiting
Imaging heart uptake of bone tracer in ATTR amyloidosis
This study uses special imaging tracers to see how much they build up in the heart in people with cardiac transthyretin (ATTR) amyloidosis. It may help researchers better measure disease activity and understand who benefits from treatments like tafamidis.
CaenAges 18–100 - NCT07444723RecruitingPhase 2/Phase 3
New imaging to find parathyroid tumors before surgery
This study tests two advanced imaging techniques (PET/MR and PET/CT) to find overactive parathyroid glands or tumors that need surgery. Participants get a special scan before surgery to help surgeons locate the problem more accurately.
Bethesda, MarylandAges 18–100 - NCT05287022Recruiting
Nasal nitric oxide test to improve primary ciliary dyskinesia care
This study tests whether a breathing test called nasal nitric oxide can help improve care for people with primary ciliary dyskinesia (PCD) or related lung/sinus problems. The goal is to see if the test can better guide diagnosis and treatment planning.
Little Rock, ArkansasAges 2–99 - NCT06742697Recruiting
Exercise program to improve walking in Hereditary Spastic Paraplegia
This study tests a combined exercise program with flexibility, strength, aerobic, and movement training to see if it helps improve walking in adults with Hereditary Spastic Paraplegia. Participants attend at least 10 supervised sessions over several weeks.
Bosisio Parini, LombardyAges 18 years+ - NCT06788808Recruiting
Ultrasound study of fetal brain development in pregnancy
This study uses ultrasound to examine fetal brain and spine development in pregnant women. It compares scans from pregnancies where a brain or spine issue is suspected with those from healthy pregnancies to improve understanding and diagnosis.
Bologna, BolognaAges 18–45 - NCT06688396Recruiting
Finding early signs of dilated cardiomyopathy with AI and mobile screening
This trial uses a smartphone app to screen first-degree relatives of people with dilated cardiomyopathy (DCM) for early signs of the condition. It aims to detect heart muscle weakness before symptoms start, so that treatment can begin sooner.
Lancaster, PennsylvaniaAges 18 years+ - NCT07447648Recruiting
Evinacumab for plaque buildup in HoFH
This observational study looks at how adding evinacumab to standard cholesterol-lowering therapy affects plaque in the heart arteries of people with homozygous familial hypercholesterolemia (HoFH). It compares those who started evinacumab within the last 2 years to those on standard therapy alone, using CT scans taken before and after treatment.
ParisAges 12 years+ - NCT07452575Enrolling by invitation
3D ultrasound to check ankle bleeds in hemophilia
This study tests whether a 3D ultrasound can better see and check ankle joint bleeding in people with hemophilia or other bleeding disorders. It may help doctors find and treat ankle bleeds more quickly, which could protect the joint.
Toronto, OntarioAges 5–18 - NCT07448935Recruiting
Understanding a gene's role in AL amyloidosis and POEMS
This study looks at how a specific gene (IGLV1-44) affects two rare diseases: AL amyloidosis and POEMS syndrome. It involves a blood draw and possibly a bone marrow sample to learn more about how the gene works in these conditions.
PaviaAges 18–99 - NCT07451613RecruitingPhase 1/Phase 2
Stem cell therapy trial for Huntington's disease
This trial tests whether human neural stem cells are safe and tolerable for people with Huntington's disease. It involves a neurosurgical procedure to inject the cells into the brain, along with MRI scans and other monitoring.
Irvine, CaliforniaAges 18–65 - NCT07448181Recruiting
Daily tracking of hereditary angioedema burden
This study uses a smartphone app to track how hereditary angioedema affects your daily life over 8 weeks. It aims to better understand the real-world burden of the condition and may help improve care.
MilanAges 18 years+ - NCT07444801Recruiting
Tralokinumab for eczema with genital symptoms
This trial tests if tralokinumab, a drug already approved for moderate-to-severe eczema, helps people who also have eczema in the genital area. It aims to understand how well the drug works for this specific symptom.
Augsburg, MünchenAges 18 years+ - NCT07447063RecruitingPhase 4
Does Dietary Salt Affect Eczema Severity?
This study tests whether adding or reducing salt in your diet changes the severity of eczema. You will have an MRI to look at your skin and may be asked to take sodium tablets temporarily.
San Francisco, CaliforniaAges 18 years+ - NCT07453251Recruiting
Tracking aortic strength for aneurysm surgery patients
This study tracks how the thickness of the aortic wall relates to strength in people having surgery for an aortic aneurysm. It aims to better understand the condition and possibly improve future care.
San Donato Milanese, MIAges 18 years+ - NCT07449143Recruiting
Physical activity program for adults with MPS
This study tests a physical activity program for adults with MPS in the UK. It aims to help with movement and daily function through group workshops.
LondonAges 18 years+ - NCT07450612Recruiting
Blood test and AI for early colorectal cancer detection
This study uses a simple blood test (liquid biopsy) and computer analysis to find early signs of colorectal cancer, precancerous growths, and Lynch syndrome. It aims to improve early detection and monitor for any remaining cancer after treatment.
Milan, LombardyAges 18 years+ - NCT07445347Enrolling by invitation
Bevacizumab for severe HHT liver issues with high heart output
This study looks at how well the drug Bevacizumab works and how safe it is for people with HHT who have severe liver problems that cause their heart to pump too much blood. It aims to help doctors understand if this treatment can help manage these serious symptoms.
PoitiersAges 18 years+ - NCT07445919RecruitingPhase 2
Testing SM17 for moderate-to-severe eczema
This trial tests an investigational drug called SM17 for people with moderate-to-severe atopic dermatitis (eczema). It aims to see if SM17 can reduce itching and skin symptoms when topical treatments haven't worked well enough.
BeijingAges 18–70 - NCT07447557RecruitingPhase 1/Phase 2
Gene therapy study for Charcot-Marie-Tooth type 4J (CMT4J)
This trial tests a gene therapy medicine (ELP-02) given through a spinal tap for children and young adults with a specific genetic form of CMT (CMT4J). It aims to slow or stop the disease from getting worse.
Palo Alto, CaliforniaAges 3–20 - NCT07453602RecruitingPhase 1
Study of ARQ-234 for healthy adults and those with atopic dermatitis
This trial tests a new medication called ARQ-234 in healthy adults and people with moderate-to-severe atopic dermatitis (eczema). The study looks at how the body handles single and multiple doses, and if it can help treat eczema.
Miami, FloridaAges 18–65 - NCT07446400RecruitingPhase 1
Drug interaction study for repinatrabit
This trial tests how repinatrabit interacts with common medications like birth control, metformin, and others. It helps doctors understand safe dosing and potential side effects.
Melbourne, VictoriaAges 18–55 - NCT07450664Enrolling by invitation
Observational study of VYKAT XR for Prader-Willi syndrome
This study follows people with Prader-Willi syndrome who are already taking or starting VYKAT XR, including those switching from an earlier version of the drug (DCCR). It aims to understand how the treatment works in everyday life.
Phoenix, ArizonaAges 4 years+ - NCT07450547RecruitingPhase 2
A trial of a new medicine for cystic fibrosis and pancreatic problems
This trial tests a new medicine (ANG003) for people with cystic fibrosis who have severe pancreatic problems. It looks at how safe and effective the medicine is, and whether it helps with digestion.
Long Beach, CaliforniaAges 12 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 5,456 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.