Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,756 recruiting studies in this area right now.
By phase
- Not applicable2,677
- Phase 2277
- Phase 1238
- Phase 3210
- Phase 1/Phase 2208
- Phase 497
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis125
- Congenital Heart Disease84
- Cystic Fibrosis76
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy37
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)28
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
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
- Massachusetts General Hospital22
Where studies are running
- California325
- Maryland161
- Alabama133
- Massachusetts107
- Arizona86
- New York85
- Texas70
- Minnesota68
- Pennsylvania62
- Florida59
Recruiting studies3,756 total
- NCT01193075Recruiting
Tracking the course of charcot-marie-tooth disease over time
This study follows people with certain types of Charcot-Marie-Tooth disease (CMT), a genetic nerve disorder, over time to understand how the condition progresses. It also includes healthy volunteers as controls, and no experimental treatments are given.
Los Angeles, CaliforniaAges Any age - NCT01193088Recruiting
Genetics study for Charcot-Marie-Tooth disease
This study looks at genes linked to Charcot-Marie-Tooth disease (CMT), a condition that affects nerves in the arms and legs. It aims to find new causes and understand why symptoms vary. If you join, you may give a blood or saliva sample for genetic testing.
Los Angeles, CaliforniaAges Any age - NCT07444580RecruitingPhase 1
Gene-silencing drug for prion disease
This study tests a new drug that targets the genetic material causing prion disease, aiming to slow or stop the disease. It's for people with symptoms or those at high genetic risk, and involves regular check-ups and spinal taps.
Boston, MassachusettsAges 18 years+ - NCT07326592RecruitingPhase 4
Weekly treatment for emphysema caused by alpha-1 antitrypsin deficiency
This study tests a weekly injection of a protein replacement therapy for adults with emphysema due to alpha-1 antitrypsin deficiency. The goal is to see if this treatment can slow down the loss of lung density over three years.
AalborgAges 18–65 - NCT07877727Recruiting
Rare blood disease network for better care
This study creates a national network to collect health information and samples from people with certain rare blood diseases. The goal is to improve treatment and understand these conditions better.
AvellinoAges 4 weeks–65 years - NCT07674277Recruiting
Virtual reality for pain relief in sickle cell crisis
This study tests whether using a virtual reality headset can help reduce pain for adults with sickle cell disease during a painful crisis. The trial aims to see if this non-drug approach can improve comfort while receiving IV pain medication.
Baltimore, MarylandAges 18–88 - NCT07602595Recruiting
Early-life health risks and chronic pain in teens and young adults
This study looks at how early health problems might affect pain that lasts a long time. If you had a muscle or joint surgery, or a rheumatic disease, before age 18, you might help us understand why some people get ongoing pain.
Cincinnati, OhioAges 14–26 - NCT00344331Recruiting
Testing blood and MRI markers for Niemann-Pick type C
This study measures biochemical (blood/biologic) markers and may use clinical evaluation and MRI to better understand Niemann-Pick disease type C. It could help improve how the condition is tracked and understood over time.
Bethesda, MarylandAges 1 day–120 years - NCT07378644RecruitingPhase 2/Phase 3
Testing SKY-0515 for Huntington's disease
This trial tests a new drug called SKY-0515 in people with Huntington's disease. The goal is to see if it can safely improve symptoms or slow the disease down.
Englewood, ColoradoAges 25 years+ - 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.
Naples, FloridaAges Any age - NCT07226726RecruitingPhase 1
Stem cell exosome treatment for congenital myasthenic syndrome
This trial tests a treatment made from stem cell exosomes (tiny particles that may help repair cells) for people with congenital myasthenic syndrome, a muscle-weakening condition. It aims to see if this treatment is safe and could improve symptoms.
Naples, FloridaAges 18 years+ - NCT07762833RecruitingPhase 3
A study of an injectable treatment for moderate-to-severe eczema
This study tests a new injectable medicine (nemolizumab) for people with moderate-to-severe eczema that hasn't been helped enough by topical treatments. It aims to reduce itching and skin symptoms. The trial will compare the drug to a placebo in Chinese participants.
Hangzhou, ZhejiangAges 12 years+ - NCT04141605Enrolling by invitation
Heart transplant candidates matched for better heart preservation
This study creates a worldwide registry and information database to help improve how donor hearts are preserved for transplant. If you are a heart transplant candidate, your details may be recorded to see what matching and preservation approaches work best.
Stanford, CaliforniaAges Any age - NCT06595940Recruiting
Genetic study of unusual disease in non-US populations
This study looks for genetic causes of rare or unusual disease patterns in people living outside the United States. If you or a family member has a condition that seems to run in the family, started very early, or has an unusual form, you may be asked to provide a DNA sample and medical history.
MokaAges 2–100 - NCT03610802Recruiting
Send blood samples to study genetic and immune differences
This study collects blood (and sometimes related samples) to learn how genes and the immune system work in people with primary immunodeficiency (PID) or in family members who may not have it. The goal is to improve understanding of rare immune conditions and help guide future care.
Bethesda, MarylandAges 1 day–99 years - NCT07242638RecruitingPhase 2
Abrocitinib for skin and hair loss in Down syndrome
This study tests if the pill abrocitinib can help people with Down syndrome who have atopic dermatitis (eczema) or alopecia areata (patchy hair loss). The goal is to see if it improves their skin or hair with manageable side effects.
New York, New YorkAges 12 years+ - NCT00029965Recruiting
Natural history of inherited metabolic storage disorders
This study follows people with certain inherited metabolic conditions (like GM1 or GM2 gangliosidosis, sialidosis, or galactosialidosis) to learn more about how these diseases progress over time. Participating may help researchers understand the conditions better, which could improve future care.
Bethesda, MarylandAges 1 day–100 years - NCT04041583Recruiting
Cervical spine fusion using spacers to support healing and function
This study looks at how well a specific neck surgery (posterior cervical fusion using added spacers) works for people with long-standing, non-traumatic neck wear-and-tear problems. It will track outcomes using symptoms and imaging to see if the surgery improves function and healing.
Columbus, OhioAges 18 years+ - NCT07159841RecruitingPhase 2/Phase 3
Study of a new drug for children with classic CAH
This study tests a new medication for children with classic congenital adrenal hyperplasia (CAH). It aims to see if the drug helps better control hormone levels and reduce the need for high doses of current steroid medicines.
San Francisco, CaliforniaAges 1–17 - NCT07405164RecruitingPhase 3
Long-term extension study for people taking belzutifan
This study is for people who are already taking belzutifan in a related trial (LITESPARK-043) and want to continue treatment for advanced solid tumors or von Hippel-Lindau-related conditions. It tests the safety and effects of long-term use.
Boston, MassachusettsAges 18 years+ - NCT07700225Recruiting
Long-term study of myotonic dystrophy type 1
This study is a long-term follow-up for people with myotonic dystrophy type 1. It aims to find better ways to measure how the disease progresses, which could help develop future treatments.
Richmond, VirginiaAges 18–70 - NCT07144163RecruitingPhase 3
Atumelnant for adults with classic CAH
This study tests a new drug, atumelnant, for adults with classic congenital adrenal hyperplasia (CAH) caused by 21-OHD. It aims to see if it can help control hormone levels while allowing lower doses of current steroid medications.
Los Angeles, CaliforniaAges 18–74 - NCT05772130Recruiting
Help family members get cancer genetic test results and counseling
This study tests a family-centered way to share cancer genetic testing results with close relatives, so more relatives get genetic counseling and testing. It may help your eligible family members understand their risk and get the right next steps.
Duarte, CaliforniaAges 18 years+ - NCT00027274Recruiting
Cancer risk in inherited bone marrow failure syndromes
This study looks at why people with inherited bone marrow failure syndromes (rare genetic conditions affecting blood cell production) have higher cancer risk. Researchers want to understand the genetic and medical factors that increase cancer likelihood, which could help doctors monitor and protect affected patients and their families.
Bethesda, MarylandAges 1 day–100 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,756 recruiting medical genetics studies from the U.S. registry right now, out of 5,439 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.