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 Disease83
- 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
- California324
- Maryland160
- Alabama133
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT00929006RecruitingEarly Phase 1
Testing progesterone effects on hormone timing during sleep in teens
This early-phase study tests whether a progesterone medicine can change when “luteinizing hormone” (a puberty-related hormone) pulses during wake versus sleep. It focuses on pubertal girls with either normal or higher-than-expected testosterone levels to see how their hormone timing responds.
Charlottesville, VirginiaAges 10–17 - NCT03068910RecruitingEarly Phase 1
Study of hormone timing in teens with high androgens
This early study looks at how certain “male-type” hormones and brain signals (measured through hormone patterns during the day and night) work in adolescent girls with high androgen levels. It may help researchers better understand causes like PCOS and related hormone timing differences.
Charlottesville, VirginiaAges 10–17 - NCT04723862RecruitingEarly Phase 1
Spironolactone to test sleep hormone patterns in teen girls
This early-phase study tests whether spironolactone can “normalize” a key hormone timing pattern during sleep and wake cycles in mid-to-late pubertal girls who have high male-hormone levels. The goal is to learn how this medicine may affect hormone rhythms related to conditions like PCOS.
Charlottesville, VirginiaAges 10–17 - NCT06724029Recruiting
Neurosurgery outcomes research for multiple conditions
This study collects data from people having brain or spine surgery for many different conditions. It aims to understand how well different treatments work and how people recover. If you are scheduled for certain brain, spine, or nerve surgeries, you may be able to join.
Bergamo, BGAges 18 years+ - NCT06717412Recruiting
Low-dose conbercept for retinopathy of prematurity
This trial tests whether a low dose of conbercept, given as an eye injection, can safely treat type 1 ROP (an eye disease in premature babies). The goal is to stop abnormal blood vessel growth and prevent vision loss.
Xi'an, ShaanxiAges Any age - NCT06716931Recruiting
Exercise study for myotonic dystrophy type 2
This study tests if a structured exercise program is safe and helpful for people with myotonic dystrophy type 2 (DM2). It aims to improve strength and daily function.
Boston, MassachusettsAges 18–70 - NCT06721299RecruitingPhase 1
Testing clenbuterol for muscle health in FSHD
This study tests a medication called clenbuterol to see if it can reduce activity of the DUX4 gene, which is believed to cause muscle damage in FSHD. If you have FSHD type 1 or 2, you may be able to join and help researchers understand if this drug can improve muscle health.
Kansas City, KansasAges 18–75 - NCT06725550Recruiting
Acupuncture for pain in sickle cell disease
This trial tests whether adding acupuncture to standard pain treatments can help manage pain in people with sickle cell disease. It involves brain scans, questionnaires, and acupuncture sessions to see if this approach reduces pain and improves quality of life.
Cincinnati, OhioAges 14–80 - NCT06723925Recruiting
Biotinidase deficiency newborn screening and follow-up study
This study looks at babies who had low biotinidase enzyme activity on their newborn screening test. It aims to understand the genetic cause and track their health over time. If your child had low activity on this test, this study may help provide important follow-up care.
Bologna, BolognaAges Up to 3 years - NCT06726642Recruiting
Blood test study for people with inherited cancer risk
This study looks for DNA fragments in blood of people with certain inherited cancer syndromes. It may help find cancer earlier or guide better monitoring. You would give blood samples every 4 months (if in the experimental group).
Vancouver, British ColumbiaAges Up to 90 years - NCT06724497Enrolling by invitationPhase 1/Phase 2
Comparing 3D face scan methods for jaw surgery patients
This trial tests whether using a handheld 3D scanner is as accurate as a standard optical scanner for predicting soft tissue changes after corrective jaw surgery. It aims to find a more convenient and accessible way to plan surgery for patients with an underbite.
Cairo, Giza GovernorateAges 18–50 - NCT06724224Recruiting
Comparing thyroid hormone drugs for babies with low thyroid
This study compares two types of levothyroxine (a thyroid hormone medicine) to see which works better for newborns and children with congenital hypothyroidism (a condition where the thyroid gland doesn't work properly from birth). If your child was diagnosed early and lives in the Emilia-Romagna region of Italy, this trial may help find the best treatment.
Bologna, BolognaAges Up to 11 years - NCT06723938Recruiting
Understanding genetic causes of differences in sex development
This study looks at the genetic and physical traits of people with 46,XY DSD (differences in sex development). It aims to better understand the causes and improve care.
Bologna, BolognaAges Up to 18 years - NCT05849077Recruiting
Testing oxygen saturation targets during newborn resuscitation
This study looks at the best oxygen saturation targets and resuscitation approach for very premature babies right after birth. It may help clinicians guide breathing support more safely in the first minutes of life.
Dallas, TexasAges birth–10 minutes - NCT06219239Recruiting
Gene therapy for transfusion-dependent beta-thalassemia
This trial tests a new gene therapy for people with beta-thalassemia who need regular blood transfusions. It uses a virus to deliver a working gene into your own stem cells, then those cells are put back into your body to help your body make healthy red blood cells.
Tianjin, Tianjin MunicipalityAges 3–35 - NCT06115122Recruiting
PEPPI Study: Finding early signs of placental problems in pregnancy
This study looks at blood markers to find women at risk for placental problems during pregnancy. It involves blood tests in early and late pregnancy, and at birth, to see how iron levels and other factors affect the placenta and baby's health.
OuluAges Any age - NCT06712823RecruitingPhase 2
Long-term safety study of atumelnant for adrenal hyperplasia
This study tests the long-term safety and effectiveness of the study drug atumelnant for people with congenital adrenal hyperplasia. It is for those who have already completed a previous atumelnant study and may benefit from continuing treatment.
Minneapolis, MinnesotaAges 16–74 - NCT06714006RecruitingPhase 1
Testing safety of PYC-003 for ADPKD
This study is testing a new investigational medicine called PYC-003 for people with autosomal dominant polycystic kidney disease (ADPKD). It is one of the first studies in humans, so the main goal is to see if the medicine is safe and tolerable. The study is for people with a specific genetic cause (PKD1 mutation) and with certain kidney imaging types.
Southport, Gold CoastAges 18–65 - NCT06711666Recruiting
Maternal mental health and baby's brain in heart disease
This study looks at how a mother's mental health during pregnancy may affect the brain development of babies with a serious heart condition called critical cyanotic congenital heart disease (CHD). It aims to understand this link to improve support for families.
MarseilleAges Up to 50 years - NCT06708468Recruiting
Personalized training for rare neuromuscular disorders
This study tests a personalized exercise program for people with rare neuromuscular diseases like FSHD, DM1, or CMT to see if it improves their physical function and quality of life.
BergenAges 18–70 - NCT06706206Recruiting
Heart artery care in hemophilia study
This study uses a special CT scan to check for heart artery disease in men with hemophilia. It aims to better understand heart risks in this group.
Oxford, OxfordshireAges 45–120 - NCT06708429Recruiting
Lynch syndrome and gut immune system study
This study looks at how the immune system interacts with the gut lining in people with Lynch syndrome and those without. It may help us better understand how Lynch syndrome affects the body.
Monrovia, CaliforniaAges 18 years+ - NCT06705816Recruiting
Cognitive function in Rett syndrome during trofinetide treatment
This study looks at how trofinetide (a medicine for Rett syndrome) affects thinking and memory in people with Rett syndrome. It will follow participants who are starting this treatment through a specific clinic.
Minneapolis, MinnesotaAges 18–99 - NCT06708338Recruiting
Bevel direction during dialysis fistula puncture
This study looks at which way the needle bevel should face when starting dialysis through a new fistula. It might help reduce pain or damage to the fistula.
Le Puy-en-VelayAges 18–85
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 5,482 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.