Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,864 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3217
- 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
- California340
- Maryland161
- Alabama130
- Massachusetts116
- New York84
- Arizona76
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,864 total
- NCT07419334RecruitingPhase 3
Study of a new drug for Stargardt disease
This trial tests a new drug, ALK-001, to see if it can slow down vision loss from Stargardt disease. It is for people who have a confirmed genetic diagnosis and are between 8 and 45 years old.
Phoenix, ArizonaAges 8–45 - NCT07251790Recruiting
Better breathing support for very preterm babies
This trial tests different ways to help very preterm babies when they are first taken off a breathing machine and switched to CPAP. It aims to find the safest and most effective breathing support to help them breathe on their own.
Melbourne, VictoriaAges birth+ - NCT07651631Recruiting
Brain Bleeding Surgery Registry and Treatment Study
This study tracks patients who have had sudden, severe bleeding in the brain and received minimally invasive surgery (a less-invasive surgical approach) to treat it. Researchers want to understand outcomes and improve treatment for this serious condition.
Atlanta, GeorgiaAges 18 years+ - NCT06875089Recruiting
Newborn gene screening study in France
This study is testing a new way to screen newborns for certain health conditions by analyzing their DNA from a small blood sample. It aims to see if parents find this type of screening acceptable and helpful.
AngersAges birth–4 weeks - NCT06740266Recruiting
Parenting support for mothers and their babies
This study tests if a specially designed parenting program can help mothers and their babies bond better and possibly affect the baby's cells in a positive way. If you are a mother with a baby between 3 and 12 months old, receiving Medicaid, and getting care at WakeMed, you may be able to join.
Raleigh, North CarolinaAges 18 years+ - NCT06515574Recruiting
Developmental care for very low birth weight babies
This trial tests whether a special care approach, called developmental care, helps very low birth weight babies (under 1500 grams) who need a breathing machine. The goal is to see if this type of care improves their development and health in the NICU.
Shanghai, Shanghai / 上海Ages birth–4 weeks - NCT06357923Recruiting
How Lamp-2 protein changes as we age
This study looks at how levels of a protein called Lamp-2 change in healthy adults over 60. It may help researchers understand aging and related health conditions.
NiceAges 60–99 - NCT07785011Recruiting
Sensory integration for gross motor and balance in children with Down syndrome
This study tests whether sensory integration therapy helps improve gross motor skills and balance in children with Down syndrome. It focuses on kids aged 3-5 who can stand alone and have specific IQ and sensory issues, while excluding those with heart problems, severe cognitive issues, recent leg surgery, obesity, or hip problems.
CairoAges 3–5 - NCT00040352Recruiting
Melanoma risk in families and individuals
This study looks at people and families with a high risk of melanoma, especially if it runs in the family or is linked to certain genetic conditions. The goal is to better understand what causes melanoma and how to detect it earlier.
Bethesda, MarylandAges 4 weeks–99 years - NCT06823635Recruiting
Catheter closure of ventricular septal defects
This study gathers information on a procedure to close a specific type of heart hole using a device inserted through a catheter. It aims to evaluate how well this procedure works in different medical centers.
CopenhagenAges 1 month+ - NCT04322318RecruitingPhase 2
Study of combination chemotherapy for Wilms tumor in children
This Phase 2 trial tests combination chemotherapy for children with certain types of Wilms tumor—either newly diagnosed diffuse anaplastic Wilms tumor or favorable Wilms tumor that has come back. The goal is to see how well the treatment controls the tumor and is tolerable for children.
Birmingham, AlabamaAges Up to 30 years - 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
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,864 recruiting medical genetics studies from the U.S. registry right now, out of 5,713 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.