Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease38
- Hemophilia A38
- 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 Cancer Institute (NCI)23
Where studies are running
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT03050268Recruiting
Study of childhood cancer risk in families
This study looks at inherited (family) risk for childhood cancers, including families with early cancers or known cancer risk conditions. It may help researchers understand why some children get cancer and improve future risk detection and care.
Memphis, TennesseeAges Any age - NCT03052283Recruiting
Abdominal symptom score test for people with cystic fibrosis
This trial helps create and check a patient-friendly questionnaire that measures abdominal (belly) involvement in cystic fibrosis. It may help your care team better track symptoms over time.
Brandenburg an der HavelAges Any age - NCT03049254Recruiting
Registry and blood/tissue study for certain sudden heart death causes
This study builds a registry and collection of samples to better understand families affected by sudden heart death and related heart rhythm problems that are not clearly caused by a heart attack. It may help researchers identify patterns and improve future care, and it offers a way for patients and families to contribute to research.
Rochester, MinnesotaAges Any age - NCT03055247RecruitingPhase 2
Try ibuprofen plus growth factor and stem-cell mobilizer for X-CGD
This trial tests a combination of medicines to help your body release (“mobilize”) stem cells for future treatment in people with X-linked chronic granulomatous disease (X-CGD). If it works well and is safe for you, it may make stem-cell collection easier and more successful.
Rome, LazioAges 18–45 - NCT03058185Recruiting
Study of people with LMNA or EMD gene mutations
This study follows people who have a confirmed harmful (pathogenic) mutation in the LMNA and/or EMD gene. It aims to better understand these conditions through regular follow-up and health information collection, which may help improve future care.
Angers, AngersAges Any age - NCT03059420Recruiting
Genetic study of strabismus and certain birth eye-movement disorders
This study looks for genetic (inherited DNA) causes of strabismus (eyes that don’t line up) and certain birth conditions that affect eye movement and brainstem/cranial nerves. Your participation may help researchers better understand these conditions and guide future testing and care.
Boston, MassachusettsAges 1 day+ - NCT03065686Recruiting
Study genes in cleft lip or palate without a known cause
This study looks for genetic reasons behind cleft lip and/or cleft palate when the cause is not known. The results may help researchers understand risk factors and improve future care.
AmiensAges Any age - 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 - NCT03083431RecruitingPhase 2
Oral propranolol to prevent early retinopathy in preemies
This trial tests whether giving propranolol by mouth to certain very premature babies with early eye changes can stop retinopathy of prematurity from getting worse. It may help reduce the need for eye treatments later on.
Tübingen, Baden-WurttembergAges 1 month–3 months - NCT03088020Recruiting
CCHS patient registry for people with PHOX2B gene changes
This study is a registry, meaning it collects health information to better understand congenital central hypoventilation syndrome (CCHS). It enrolls only people whose CCHS has been confirmed by a PHOX2B gene test.
Chicago, IllinoisAges Any age - NCT03107520RecruitingEarly Phase 1
Ultrasound during hip surgery to check blood flow
This early-phase study tests a special ultrasound with an added contrast medicine (Lumason) during surgery for babies with developmental dysplasia of the hip (DDH). It aims to better see blood flow at the time of surgery, which may help guide and improve care.
Philadelphia, PennsylvaniaAges 4 months–2 years - NCT03109197Recruiting
SUDC registry to study sudden unexplained child deaths
This registry collects information (and sometimes DNA) from families affected by sudden unexplained death, to help researchers learn possible underlying causes. If you qualify, you may be contacted about participating in a DNA study or completing family information.
New York, New YorkAges 11 months–100 years - NCT03124212Recruiting
Genetic testing guidance for inherited breast, ovarian, or colon cancer risk
This study helps people in Switzerland who already have a known inherited cancer gene change understand what it means for them and their family. It focuses on people with specific known mutations related to hereditary breast/ovarian cancer and Lynch syndrome.
Fribourg, Canton of FribourgAges 18 years+ - NCT03128996RecruitingPhase 1/Phase 2
Bone marrow transplant with lighter chemo for non-cancer illnesses
This early-phase study tests a safer “lighter” conditioning chemo plan before a bone marrow transplant for people with non-cancer blood and immune disorders. It aims to reduce transplant risk while using donor marrow that does not match perfectly in the HLA type.
New Haven, ConnecticutAges 1 day–21 years - NCT03131427Recruiting
Registry for inherited liver and metabolism-related conditions
This is a study that collects health information and samples (if applicable) from people with certain genetic or metabolic liver diseases. It may help doctors better understand these conditions and improve future care.
Beijing, Beijing MunicipalityAges Any age - NCT03137355Recruiting
Registry for people with Leigh syndrome
This study is a registry that collects information from people diagnosed with Leigh syndrome. It may help researchers understand the condition better and improve future care.
Houston, TexasAges birth–100 years - NCT03139786Recruiting
Heart valve follow-up study for bicuspid aorta patients
This study follows patients who have a bicuspid aortic valve—a heart valve with two leaflets instead of three. Researchers track how this condition changes over time to better understand its long-term effects and help guide future care.
Amiens, PicardieAges 18 years+ - NCT03160274Recruiting
Genetic testing for certain adrenal and nerve tumors
This study looks at genetic (DNA) changes in people with pheochromocytoma or paraganglioma and related conditions. It may help clarify why these conditions happen and how they run in families.
San Antonio, TexasAges Any age - NCT03185702Recruiting
Turner syndrome research registry for people with Turner syndrome
This registry study is collecting information from people who have Turner syndrome. It may help researchers better understand the condition and plan future studies that could lead to improved care.
Houston, TexasAges Any age - NCT03190837Recruiting
Long-term study for people with Gaucher disease
This study is designed to learn what happens over time in people who have Gaucher disease. It may help researchers understand the long-term effects of the condition and improve future care.
Durham, North CarolinaAges Any age - NCT03193476Recruiting
XLH patient registry for people with X-linked hypophosphatemia
This registry collects information about people diagnosed with X-linked hypophosphatemia (XLH). It helps researchers better understand the condition and may support future studies by tracking patients over time.
BrusselsAges Any age - NCT03198702RecruitingPhase 3
Early botulinum shots to prevent shoulder shape problems
This trial tests whether early injections of botulinum toxin into a baby’s arm muscles can prevent the shoulder from changing shape in infants with obstetrical brachial plexus palsy (OBPP). It also checks that the injections are safe and effective over time.
BrestAges 10 months–11 months - NCT03206190Recruiting
Study for early SPG4 symptoms in family members
This study looks at people in families with a known SPG4 gene change (a SPAST mutation) to understand early, subtle signs and the beginning of symptoms. It may help researchers find better ways to detect SPG4 earlier, before full walking problems start.
TübingenAges 18–70 - NCT03214354RecruitingPhase 2
Stem cell transplant for children with sickle cell and ABO mismatch
This trial studies a stem cell transplant approach for children with sickle cell disease, using a sibling donor whose blood type is not compatible. It aims to see if this transplant method can safely reduce serious sickle cell complications.
Calgary, AlbertaAges 1–19
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.