Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,756 recruiting studies in this area right now.
By phase
- Not applicable2,677
- Phase 2277
- Phase 1238
- Phase 3210
- Phase 1/Phase 2208
- Phase 497
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis125
- Congenital Heart Disease84
- Cystic Fibrosis76
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy37
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)28
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
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
- Massachusetts General Hospital22
Where studies are running
- California325
- Maryland161
- Alabama133
- Massachusetts107
- Arizona86
- New York85
- Texas70
- Minnesota68
- Pennsylvania62
- Florida59
Recruiting studies3,756 total
- NCT05081115Recruiting
Stress echo imaging for people with heart valve or muscle issues
This trial studies a stress echocardiogram (an ultrasound of the heart during stress) to better understand and improve future heart imaging. It may help by comparing how well the test works for different heart conditions.
BeneventoAges 18–75 - NCT04613089Recruiting
Study of Batten disease progress and clinical changes over time
This trial tracks how Batten disease (NCL) affects the body and how symptoms change over time. If you have a confirmed genetic (molecular) diagnosis—especially CLN2 with Brineura treatment—it may help researchers understand disease patterns and care needs.
HamburgAges Any age - NCT05178277Recruiting
Alpha-1 antitrypsin deficiency registry study
This study collects health information from people who have alpha-1 antitrypsin deficiency. It may help doctors better understand the condition and improve care over time.
Prague, Czech RepublicAges Any age - NCT04010188Recruiting
Study comparing people with Charcot-Marie-Tooth and healthy controls
This study follows people who have Charcot-Marie-Tooth disease (CMT) and compares them with people without it. It aims to better understand CMT, using both clinical symptoms and genetic test results, which may help future care.
FuzhouAges Any age - NCT05200429Recruiting
Study of long-term effects of CFTR modulator medicines in CF
This observational study follows people with cystic fibrosis (CF) to understand the long-term impact of CFTR modulator medicines. It may help researchers see how these treatments work over time in real life.
Vancouver, British ColumbiaAges Any age - NCT05238610Recruiting
Registry for older adults with stroke of unclear cause and PFO
This study follows adults over 60 who had a stroke where the cause is unclear, and where a heart opening (PFO) may have contributed. It mainly collects information to better understand this stroke pattern and how these patients do over time.
SeoulAges 60 years+ - NCT04682470Recruiting
Research study following young adults with cancer
This is an observational study that follows young adults with a confirmed cancer diagnosis to learn more about their experience and care. It does not test a new drug, but your information may help improve future cancer treatment and support.
Amsterdam, North HollandAges 18–39 - NCT02744365Recruiting
Pregnancy complications biobank for future research
This study collects pregnancy-related samples and health information to help researchers learn more about conditions like preeclampsia and prematurity. Your participation may help future studies, but it usually involves whether you can safely consent and whether the pregnancy is continuing at the time of recruitment.
QuébecAges 18 years+ - NCT05283759Recruiting
Brugada syndrome registry study at UZ Brussel
This study keeps a registry (a secure list) of people who have been diagnosed with Brugada syndrome. It helps doctors learn about the condition over time and may support future research aimed at better care.
BrusselsAges 18–100 - NCT02194816Recruiting
Online survey study for people with Parkinson’s or Parkinsonism
This study looks at how changing certain factors over time relates to symptoms in Parkinson’s disease and related conditions. You may help researchers by completing longer online surveys every 6 months for 5 years.
Kenmore, WashingtonAges 19 years+ - NCT05335603Recruiting
Study of adults with liver conditions linked to fatty liver
This study looks at adults with different long-term liver conditions that are associated with fatty liver. It helps researchers better understand these diseases and factors linked to them.
HvidovreAges 18 years+ - NCT04420156Recruiting
Study to understand eye disease risk in premature babies
This study looks at newborn eye exams and genetic information to better understand why some premature infants develop a serious vision problem called ROP. You may be invited because your baby needs routine eye screening or is being moved for specialized eye care.
Palo Alto, CaliforniaAges Up to 1 year - NCT05328050Recruiting
Registry for people with achondroplasia or hypochondroplasia
This is a research registry that enrolls people with achondroplasia or hypochondroplasia. It helps researchers collect information about the condition to improve understanding and future studies.
MilanAges Any age - NCT04746066Recruiting
Study of thalassemia, sickle cell, and inherited anemia with COVID
This observational study looks at people with thalassemia, sickle cell disease, or other inherited anemia who have COVID-19. It aims to learn how COVID affects these conditions and may help improve care planning.
GenovaAges Any age - NCT05081258Recruiting
Tests presurgery shaping for newborn cleft lip and palate growth
This study looks at whether a presurgery orthodontic shaping method affects how newborns with a cleft lip and palate grow over time. It may help clinicians decide on the best early treatment approach.
Erlangen, BavariaAges 1 day–2 years - NCT03479580Recruiting
Registry for coronary and small-vessel heart disease in cardiomyopathy
This study enrolls people with certain types of heart muscle diseases to learn how blocked heart arteries and tiny blood vessels affect symptoms and outcomes. It may help researchers better understand these conditions and improve future care.
La TroncheAges 18–100 - NCT05399745Recruiting
Study of biliary atresia in children with heart disease
This trial is studying children who have biliary atresia, a serious liver problem, including some who also have tetralogy of Fallot (a congenital heart condition). It also includes healthy children for comparison, and may help researchers understand the illness and treatments better.
CopenhagenAges birth–18 years - NCT05402839Recruiting
Screening people who may be prone to malignant hyperthermia
This study looks at people who had a dangerous anesthesia reaction called malignant hyperthermia during or after surgery. It may help teams figure out who might be at risk in the future so they can take safer steps next time.
Beijing, Beijing MunicipalityAges birth–100 years - NCT01601171Recruiting
Genetic study of reproductive problems and cleft lip or palate
This study looks at genetic (inherited) causes of certain hormone and reproductive conditions, including Kallmann syndrome and cleft lip/palate. You might be asked for medical and family history and possibly a DNA sample, helping researchers find what drives these conditions.
Lausanne, Canton of VaudAges Any age - NCT05436587Recruiting
Genetic testing study for hard-to-classify bone marrow failure
This study looks for gene changes in families affected by rare inherited bone marrow failure that can cause fragile bones and fractures. It may help doctors understand the condition better by linking genetic mutations with family health patterns.
SohagAges Any age - NCT03362164Recruiting
Studying heart involvement in people with Fabry disease
This study looks at how the heart is affected in adults with Fabry disease. It may help doctors better understand heart-related changes in order to guide care.
Würzburg, BavariaAges 18 years+ - NCT02329210Recruiting
Registry study for people with Bardet-Biedl syndrome
This study is a registry that collects health and genetic information from people with Bardet-Biedl syndrome. It may help researchers better understand the condition and improve future care by building a clear group of eligible patients.
Marshfield, WisconsinAges Any age - NCT03718403RecruitingPhase 4
Theophylline trial for pseudohypoparathyroidism
This Phase 4 study tests whether the medicine theophylline can help people with pseudohypoparathyroidism type 1A or 1B. It may be considered if you’re trying to improve how your body uses parathyroid hormone and manage related calcium levels.
Boston, MassachusettsAges 5–21 - NCT05058781Recruiting
Study of early hormone changes in newborns at risk
This trial looks at “minipuberty,” a normal early hormone window in newborns, in babies who may have hormone-signaling problems. It may help doctors understand what to watch for and how early care could be planned.
Lausanne, Canton of VaudAges Up to 9 months
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,756 recruiting medical genetics studies from the U.S. registry right now, out of 5,439 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.