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
- NCT05130606Recruiting
Story-based program to improve genetic cancer counseling for Latina women
This study tests a Spanish/English narrative (story-based) program designed to help improve genetic counseling and genetic testing for hereditary breast and ovarian cancer risk. It may help you better understand your options and feel more prepared to get the right type of genetic care.
Washington D.C., District of ColumbiaAges 18 years+ - NCT05129605Recruiting
Prostate cancer genetic risk screening study for men
This study looks at your personal and family risk for prostate cancer and helps decide who should have extra screening like MRI. It may help you find cancer earlier if you are at higher genetic risk.
Boston, MassachusettsAges 35–74 - NCT05130437RecruitingPhase 1/Phase 2
Follow-up study for an mRNA vaccine given before
This is a follow-up study for people who already received the mRNA-3927 vaccine in an earlier trial. It looks at how safe the treatment is over the long term and whether it continues to have benefit.
Los Angeles, CaliforniaAges 1 year+ - NCT05135975RecruitingPhase 2
Cabozantinib maintenance to help stop pediatric cancer from growing
This trial studies cabozantinib given after standard treatment to try to keep high-risk pediatric solid tumors from coming back or getting worse. It is offered to children and young adults whose cancer has not fully disappeared but is not progressing at the start of this maintenance phase.
Birmingham, AlabamaAges 1.5 years–40 years - NCT05145127RecruitingPhase 3
Marstacimab follow-up study for people with hemophilia
This Phase 3 study looks at how well and how safely marstacimab works over a longer follow-up period. You may join if you already finished a related parent study for hemophilia, and you can keep up with frequent visits and lab tests.
Iowa City, IowaAges 1–74 - NCT05146193Recruiting
AI tool that analyzes spine curves from images
This trial is testing an AI computer system that automatically measures scoliosis and related spine curve problems using medical images. If you qualify, you may be asked to have or allow specific imaging so the system can be checked for accuracy and usefulness.
Hong KongAges 10–80 - NCT05147701RecruitingPhase 1
Testing stem cell treatment for NAION safety
This Phase 1 study tests whether lab-made stem cells taken from donated umbilical cord are safe for people with NAION. It mainly looks for side effects and safety rather than proving the treatment works.
St John'sAges Any age - NCT05163899Recruiting
Surgery to release an occult tethered cord
This trial studies whether a specific back surgery (cutting/releasing part of the filum terminale) helps people with an “occult” tethered cord syndrome when symptoms have not improved with medicine. It may help by reducing traction on the spinal cord to improve bladder/bowel, skin, or nerve-related symptoms.
New York, New YorkAges 2–80 - NCT05163288RecruitingPhase 3
N-acetyl-leucine trial for Niemann-Pick disease type C
This Phase 3 trial tests whether N-acetyl-leucine can improve symptoms in people with Niemann-Pick disease type C (NPC). If you qualify, you will be asked to take study medicine and complete symptom and movement tests over time.
Rochester, MinnesotaAges 4 years+ - NCT05170412Recruiting
Diet habits study for adults with sickle cell disease
This study asks adults with sickle cell disease about what they eat and their eating routines. The goal is to understand diet patterns in sickle cell and how they may relate to health, which could help future care and guidance.
Bethesda, MarylandAges 18–120 - NCT05171894RecruitingPhase 2
Test of lower light dose for port-wine birthmarks
This Phase 2 study tests whether using a lower light dose during a treatment called Hemoporfin PDT can safely shrink port-wine birthmarks (PWB). It aims to find a dose that works well while causing fewer side effects.
Irvine, CaliforniaAges 18–75 - NCT05178277Recruiting
Alpha-1 antitrypsin deficiency registry study
This study collects health information from people who have alpha-1 antitrypsin deficiency. It may help doctors better understand the condition and improve care over time.
Prague, Czech RepublicAges Any age - NCT05190991RecruitingPhase 2
RPH-104 to prevent repeat fevers in colchicine-resistant FMF
This Phase 2 study tests whether RPH-104 can help prevent recurrent fever attacks in adults with Familial Mediterranean Fever (FMF) who cannot tolerate colchicine or whose disease does not respond to it. Participants may receive the medicine at the clinic or learn to give it as a self-injection, depending on what fits your situation.
YerevanAges 18–80 - NCT05196984Recruiting
Gamma brain stimulation study for adults with Down syndrome
This trial tests a brain stimulation approach aimed at affecting brain activity in people with Down syndrome. It may help researchers understand whether this kind of stimulation can improve certain brain or thinking-related outcomes.
Cambridge, MassachusettsAges 25–65 - NCT05196789Recruiting
Genetic testing to diagnose inherited bone marrow failure
This study looks at patients with suspected inherited (families-linked) bone marrow failure to better understand the cause using genetic testing. It may help confirm a diagnosis and refine how different inherited conditions are classified.
Melbourne, VictoriaAges 3 months+ - NCT05201144RecruitingPhase 2
Test of sildenafil after diaphragm hernia surgery in newborns
This trial studies whether sildenafil (a medicine that helps relax blood vessels) can improve outcomes in babies born with a congenital diaphragmatic hernia (CDH) after they’ve had surgery. Babies are selected based on an ultrasound/echo of heart function after repair.
Salt Lake City, UtahAges Any age - NCT05200429Recruiting
Study of long-term effects of CFTR modulator medicines in CF
This observational study follows people with cystic fibrosis (CF) to understand the long-term impact of CFTR modulator medicines. It may help researchers see how these treatments work over time in real life.
Vancouver, British ColumbiaAges Any age - NCT05200715Recruiting
Registry study for inherited and inflammatory eye and joint diseases
This study is a registry, meaning it collects your medical information to better understand several inflammatory (auto-inflammatory) conditions. It may help doctors and researchers improve diagnosis and future treatments for people with these disorders.
AlgiersAges Any age - NCT05202210Recruiting
Biobank study for people with Noonan syndrome
This study collects biological samples to better understand what causes Noonan syndrome. If you qualify, your participation could help researchers learn how the condition works and guide future care.
ToulouseAges 18–99 - NCT05208281RecruitingPhase 2/Phase 3
GNR-055 for Hunter syndrome after standard enzyme treatment
This trial tests the safety and effectiveness of a study medicine called GNR-055 in people with Hunter syndrome (MPS II). It may help researchers learn whether the treatment improves outcomes and how the body handles the medicine.
MoscowAges Any age - NCT05209776Recruiting
Studying heart inflammation patterns in specific heart rhythm conditions
This study compares inflammation-related signals in people with arrhythmogenic right ventricular cardiomyopathy versus people having certain heart procedures for non-cancer, non-inflammatory reasons. It may help researchers better understand what drives abnormal heart rhythms in this condition.
ToulouseAges 18–99 - NCT05210114Recruiting
Skin hydration study in people with sickle cell
This study looks at how hydrated your skin is in people with sickle cell disease. It aims to better understand skin-related changes, which may help doctors monitor health and treatments in the future.
Pittsburgh, PennsylvaniaAges 12 years+ - NCT05211570RecruitingPhase 1/Phase 2
Study drug AB8939 for AML after prior treatments
This Phase 1/2 study tests AB8939 in people with acute myeloid leukemia (AML) whose disease has come back or did not respond to earlier treatment. It may help researchers find a safe dose and learn whether the treatment can control the leukemia.
Houston, TexasAges 18 years+ - NCT05213598Recruiting
Biomarker study for liver disease after Fontan surgery
This study looks for blood and/or test markers that can better show how severe liver disease is in people who had the Fontan heart procedure. It also involves medical imaging and/or a liver biopsy or related procedures to help evaluate those markers.
Bethesda, MarylandAges 18–100
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.