Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,863 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis129
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease39
- Hemophilia A39
- 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 Human Genome Research Institute (NHGRI)23
Where studies are running
- California339
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona77
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,863 total
- NCT05702645Recruiting
Down syndrome long-term study after leukemia treatment
This study follows children and young adults with Down syndrome who have survived acute leukemia (ALL or AML) to learn about their longer-term health after treatment ends. It may help families and doctors understand what health problems to watch for and how to provide better follow-up care.
Birmingham, AlabamaAges 6–39 - NCT06834594RecruitingPhase 4
Bleeding patterns in teens with Turner syndrome on progesterone
This study looks at how different ways of taking progesterone (a hormone given along with estrogen) affect bleeding patterns in teens with Turner syndrome. The goal is to find the best hormone schedule to cause regular, predictable periods.
Kansas City, MissouriAges 12–20 - NCT07551921Recruiting
Blood Test Validation for Phenylketonuria Monitoring
This study tests a new fingerstick blood test (PheCheck™) designed to help monitor phenylketonuria (PKU), a rare condition affecting how the body processes a protein called phenylalanine. If you or your child has PKU and are already being monitored for it, this study may help improve how your care team tracks the condition.
Chicago, IllinoisAges 1 year+ - NCT06366464RecruitingPhase 3
Study of a drug for sleepiness in Prader-Willi syndrome
This trial tests a medication called pitolisant to see if it helps reduce excessive daytime sleepiness in people with Prader-Willi syndrome. You or your loved one may be able to join if they have a confirmed diagnosis and a caregiver who can regularly help with study tasks.
Los Angeles, CaliforniaAges 6 years+ - NCT07281079RecruitingPhase 3
Testing NNZ-2591 for children with Phelan-McDermid syndrome
This trial tests a new medicine, NNZ-2591, to see if it helps children with Phelan-McDermid syndrome. It is for children aged 3 to 12 who have a specific genetic change (SHANK3) and weigh at least 10 kg.
Birmingham, AlabamaAges 3–12 - NCT07771023Enrolling by invitation
Exercise for people who had aortic repair
This trial looks at whether a supervised exercise program can improve fitness and quality of life in adults who were born with a narrowed aorta (coarctation) and had surgery to fix it as a baby or child. It aims to see if exercise is safe and helpful for heart health and daily energy, without placing extra strain on the repaired area.
LjubljanaAges 18 years+ - NCT07431112RecruitingPhase 1
Study of AIR-001 for adults with alpha-1 antitrypsin deficiency
This study tests an experimental RNA-based medicine (AIR-001) for people with a genetic form of alpha-1 antitrypsin deficiency (AATD). It aims to see if the drug can help boost your body's own protective protein levels and may slow lung damage.
MelbourneAges 18–74 - NCT05373264RecruitingPhase 3
Hydrochlorothiazide to help polycystic kidney disease and quality of life
This Phase 3 study tests whether hydrochlorothiazide can help people with autosomal dominant polycystic kidney disease (ADPKD) and improve quality of life. It also looks at whether it affects kidney health while you stay on your current ADPKD-related treatment.
GrazAges 18–80 - NCT07425574Recruiting
Study on how Stargardt eye conditions progress in children and adults
This study observes how Stargardt disease and similar eye conditions change over time in children and adults. It aims to learn more about the disease progression to help develop future treatments.
Phoenix, ArizonaAges 6 years+ - NCT06163482Recruiting
Meal Hormone Study in Cystic Fibrosis
This study looks at how the body processes a mixed meal in people with cystic fibrosis who are on CFTR modulator therapy. It may help researchers understand how these medications change hormone and blood sugar responses.
Cincinnati, OhioAges 18–45 - NCT06210698Recruiting
Angioedema biomarker research study
This study collects blood samples (and optional skin samples) from people with angioedema to learn more about the condition and find better ways to diagnose and treat it. If you join, you may help scientists understand angioedema better.
Wheaton, MarylandAges 12–75 - NCT07780981Recruiting
Body position study for endoscopy pressure measurements
This study looks at whether lying on your back or side affects a measurement taken during a routine endoscopy procedure to check how well your esophagus and stomach opening are working. It may help doctors get more accurate readings to guide your care.
Baltimore, MarylandAges 5–21 - NCT00001465Recruiting
Study of lymphangioleiomyomatosis (LAM) disease process
This study looks at the natural history and disease process of lymphangioleiomyomatosis (LAM), a rare lung disease that mostly affects women. It may help understand how LAM progresses and how it affects daily life, and may include exercise testing and other evaluations.
Bethesda, MarylandAges 16–100 - NCT06668805RecruitingPhase 2
Study of vosoritide for children with Noonan syndrome and short stature
This trial tests a new drug, vosoritide, to help children with Noonan syndrome who are still growing but are shorter than expected despite growth hormone treatment. It aims to see if the drug can improve their growth.
Los Angeles, CaliforniaAges 3–11 - NCT07781267Recruiting
Long-term outcomes of congenital adrenal hyperplasia
This study looks at the long-term experiences of adults with classic congenital adrenal hyperplasia (CAH), a condition affecting hormone production. It aims to understand patient satisfaction and health outcomes over time.
LilleAges 18–65 - NCT07781566Recruiting
Speech therapy intensity for cleft palate speech errors in children
This study looks at how well two different intensities of speech therapy work for children with a cleft palate who have speech sound errors. It aims to find the best way to help your child speak more clearly.
Ghent, East-FlandersAges 4 years+ - NCT05871970RecruitingPhase 2
TARA-002 treatment for lymphatic cysts in children
This Phase 2 trial tests whether an injected medicine called TARA-002 placed inside lymphatic cysts can safely shrink lymphatic malformations in children. It may help especially when the cysts are mainly in the head, neck, or chest area.
Birmingham, AlabamaAges 6 months–18 years - NCT07587242RecruitingPhase 3
Testing a New Therapy for DMD with Exon 44 Mutations
This study tests whether a new medicine called AOC 1044 (delpacibart zotadirsen) can help boys with Duchenne muscular dystrophy (DMD) who have a specific genetic mutation. The medicine works by helping the body skip a damaged part of the gene to make a functional protein.
LeuvenAges 7–16 - NCT05253131RecruitingPhase 2
Selumetinib plus durvalumab for advanced sarcoma
This Phase 2 study tests whether selumetinib and durvalumab can slow or shrink certain advanced sarcomas. It’s for adults with disease that has come back, progressed, or can’t be safely removed with surgery.
Birmingham, AlabamaAges 18–99 - NCT06502171RecruitingPhase 1
Cabozantinib and selumetinib for plexiform neurofibromas
This trial tests a combination of two targeted drugs (cabozantinib and selumetinib) for people with NF1 who have plexiform neurofibromas that are growing or causing significant problems. The goal is to see if this combination can shrink or slow the growth of these tumors.
Birmingham, AlabamaAges 16 years+ - NCT04405700Recruiting
Tracking birth outcomes and birth defects after delivery
This study follows pregnant people and their babies to better measure adverse outcomes and possible congenital (from birth) conditions. It may help improve how birth risks and birth defects are identified and recorded at the clinic.
EldoretAges Any age - NCT07776626RecruitingPhase 1
Study of YOLT-203 for Primary Hyperoxaluria Type 1
This study tests a new treatment for primary hyperoxaluria type 1, a rare condition that causes too much oxalate in the body, which can lead to kidney stones and kidney damage. The treatment is given as an injection, and the study will see if it is safe and how the body responds.
Shanghai, Shanghai MunicipalityAges 6 years+ - NCT07456046RecruitingPhase 1
Study of D3S-003 for advanced solid tumors with KRAS G12D mutation
This trial tests a new medicine called D3S-003 in people whose cancer has a specific change (mutation) known as KRAS G12D. The medicine aims to target and attack cancer cells with this mutation. It may be an option if standard treatments have stopped working or are not available.
New Haven, ConnecticutAges 18 years+ - NCT07426419RecruitingPhase 1/Phase 2
Gene therapy for BAG3-related dilated cardiomyopathy
This trial tests a gene therapy (AFTX-201) for people with dilated cardiomyopathy caused by a BAG3 gene mutation. The therapy aims to improve heart function, and the study will check if it is safe and effective.
Miami, FloridaAges 18–70
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,863 recruiting medical genetics studies from the U.S. registry right now, out of 5,730 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.