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
- NCT07570459Recruiting
Understanding Tremor in Charcot-Marie-Tooth Disease
This study examines tremor (involuntary shaking) in people with Charcot-Marie-Tooth disease, a genetic nerve condition that affects the legs and feet. Researchers will compare people with CMT who have tremor to healthy volunteers to better understand this symptom.
Göttingen, Lower SaxonyAges 18–65 - NCT07569419RecruitingEarly Phase 1
Testing Linaclotide for Cystic Fibrosis Bowel Function
This early-stage study tests whether a medication called linaclotide can help improve bowel function in people with cystic fibrosis. Researchers will use MRI scans and other tests to see how the medication affects your digestive system.
NottinghamAges 18–65 - NCT07569445Recruiting
Brain activity and hearing tests in Rett syndrome
This study measures brain waves and hearing in people with Rett syndrome to better understand how the condition affects the brain's ability to process sound. The information may help develop better treatments and support.
Rochester, New YorkAges 2 years+ - NCT07572435Recruiting
Remote Heart Exercise Program for Kids With Heart Surgery
This study tests whether kids aged 8–18 who had complex heart surgery can safely improve their fitness and well-being using exercise activities at home through a mobile app or video. The goal is to help them become more active after surgery.
SeoulAges 8–18 - NCT07572825RecruitingPhase 1
Safety study of NMN supplement for DHDDS-CDG
This trial tests whether a supplement called NMN is safe and well-tolerated in children and adults with a rare genetic condition called DHDDS-CDG. NMN may help support cellular energy and protein production, which are affected by this condition.
New York, New YorkAges 4 years+ - NCT07573735Recruiting
Blood markers and skin inflammation in atopic dermatitis
This study examines a specific blood marker (cfDNA-STING) that may help explain why atopic dermatitis develops. Researchers will compare this marker in people with and without atopic dermatitis to understand the condition better.
Nanjing, JiangsuAges 18 years+ - NCT07576816Recruiting
Hip vs. Knee Exercises for Flat Feet
This study compares two types of exercises—one focusing on hip muscles and one on knee muscles—to see which better improves flat feet, balance, and leg strength. If you have flexible flat feet without pain, this trial may help you strengthen your feet and improve stability.
Faisalābad, Punjab ProvinceAges 25–40 - NCT07570446Recruiting
Autonomic Function in Charcot-Marie-Tooth Disease
This study examines how autonomic nerves (the nerves that control automatic body functions like heart rate and blood pressure) are affected in people with CMT (Charcot-Marie-Tooth disease), a genetic nerve disorder. Understanding this may help improve treatment and quality of life for CMT patients.
Göttingen, Lower SaxonyAges 18–65 - NCT07570121RecruitingPhase 1
How Caffeine Moves Through Pregnancy and to the Baby
This study looks at how caffeine is absorbed and transferred to a baby during pregnancy in women at risk of early delivery. Researchers hope to understand safe caffeine use in this situation and potentially help prevent complications.
Indianapolis, IndianaAges 18 years+ - NCT06614777Recruiting
Darier's disease immune and microbiome study
This study looks at immune markers and gut/skin bacteria in people with Darier's disease. It aims to better understand the condition, which could lead to better treatments in the future.
Toulouse, Centre Hospitalier Universitaire de ToulouseAges 18 years+ - NCT06708572Recruiting
GCSF after Kasai surgery for biliary atresia
This study tests a medicine called GCSF (helps make white blood cells) in babies who have had Kasai surgery for biliary atresia. It aims to see if GCSF can improve liver function and overall outcomes.
Cairo, Menofia GovernorateAges 3 weeks–1 year - NCT06727669Recruiting
Long-term study of blood clotting and bleeding disorders
This study observes patients with blood clotting or bleeding disorders over time to collect health information and improve care.
Beijing, Beijing MunicipalityAges Any age - NCT06354790Recruiting
LAMA2-related dystrophy natural history study in children
This study follows children with LAMA2-related muscular dystrophy to learn how the condition changes over time. It does not test a new treatment, but helps researchers understand the disease better.
GarchesAges 2–15 - NCT06723951Recruiting
Quality of life questionnaire for spina bifida patients
This study tests a new questionnaire QUALAS to see how well it measures quality of life in Dutch people with and without spina bifida. If you have spina bifida or are a healthy volunteer, you may help validate this tool.
GroningenAges 8 years+ - NCT06730464Recruiting
Predicting dangerous heart rhythms in non-ischemic heart disease
This study uses heart MRI scans to predict who might develop dangerous heart rhythms. It's for people with certain types of non-ischemic heart disease who have already had an MRI with contrast.
Milan, ItalyAges 18 years+ - NCT07566494RecruitingPhase 1
Testing VAS-101 for sickle cell disease
This early-phase trial tests a new drug called VAS-101 for people with sickle cell disease. It aims to find a safe dose and see how the drug affects the body.
Bethesda, MarylandAges 18–90 - NCT07560956Enrolling by invitation
Quality of Life in Adults With Untreated Fabry Disease
This study looks at how Fabry disease affects daily life in adults who haven't started treatment yet. Researchers want to understand your experiences and challenges to improve care for people with this rare genetic condition.
GothenburgAges 18 years+ - NCT07560020RecruitingPhase 2
Surlorian for RYR1 muscle weakness: strength and safety study
This trial tests whether a new drug called Surlorian can improve muscle strength in adults with a rare genetic muscle condition (RYR1-related myopathy). You'd receive either the drug or a placebo and be monitored for safety and changes in muscle function.
Marseille, Bouches-du-RhôneAges 18–65 - NCT07560618RecruitingPhase 4
Testing a new cream for itch relief in atopic dermatitis
This study tests whether roflumilast cream (a new anti-inflammatory medication applied to the skin) can reduce the intense itching caused by atopic dermatitis (eczema). You'll track your itching daily using a smartphone app and visit the clinic to see if the cream helps over time.
Sacramento, CaliforniaAges 12 years+ - NCT07567131Recruiting
Understanding sun sensitivity in rare porphyria disorders
This study tracks how your body reacts to sunlight if you have erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP)—rare genetic conditions that cause painful skin reactions to sun exposure. Researchers will use special devices and daily logs to better understand your symptoms and how light affects your skin.
Boston, MassachusettsAges 12 years+ - 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 - NCT05078723Recruiting
Study links limonene to CYP2C19 gene differences
This study looks at how a person’s CYP2C19 gene type affects how their body processes limonene (a citrus compound). The results may help researchers understand differences in drug and nutrient processing based on genetics.
Stanford, CaliforniaAges 18–45 - NCT07561359Enrolling by invitation
12-Week Home Exercise Program for Hereditary Spastic Paraplegia
This trial tests whether a guided 12-week strength and movement exercise program, done at home using your phone or computer, can improve walking ability and muscle strength in people with hereditary spastic paraplegia (a genetic condition that causes leg stiffness and weakness). The program is tailored to your current fitness level.
Porto Alegre, Rio Grande do SulAges 16–70 - NCT07563660Recruiting
Heart imaging study for arrhythmogenic right ventricular cardiomyopathy
This study uses a special type of heart scan (FAPI PET/CT) to better visualize and understand arrhythmogenic right ventricular cardiomyopathy (ARVC), a condition where the heart muscle weakens and causes irregular heartbeats. The scan may help doctors understand the disease better and improve patient care.
Istanbul, FatihAges 18 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.