Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,767 recruiting studies in this area right now.
By phase
- Not applicable2,684
- Phase 2280
- Phase 1241
- Phase 3210
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)38
- 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
- Massachusetts108
- Arizona87
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,767 total
- NCT05284513Enrolling by invitation
Care team study for families with high cholesterol
This study tests a “reach everyone” approach in primary care clinics to improve care for people with familial hypercholesterolemia (families with very high cholesterol). It may help families get recognized sooner and get the right follow-up.
Multiple Locations, PennsylvaniaAges 26 years+ - NCT05285345Recruiting
A new discharge plan for very premature babies with lung disease
This trial tests a standardized, team-agreed discharge plan to help preterm babies with lung disease (often called BPD) leave the hospital safely. It may help by making the discharge process more consistent, especially for babies going home on breathing support like oxygen.
Boston, MassachusettsAges birth–1 year - NCT05302271RecruitingPhase 1
Gene therapy for the heart problems in Friedreich's ataxia
This trial tests a one-time gene therapy that delivers a corrected copy of the frataxin gene directly to the heart. It aims to improve or stabilize heart function in people with Friedreich's ataxia who have early or advanced heart involvement.
New York, New YorkAges 12–50 - NCT05275972RecruitingPhase 3
Compare cornea surgery thickness results for FECD
This Phase 3 trial compares outcomes from two cornea transplant procedures in people with FECD, a disease that makes the cornea swell and affect vision. It may help you and others by identifying which approach best supports clear vision and stable corneal thickness after surgery.
Palo Alto, CaliforniaAges 18 years+ - NCT05279040Recruiting
Trikafta plus exercise program for adults with cystic fibrosis
This study tests how starting Trikafta affects exercise ability and breathing in adults with cystic fibrosis. You may be asked to do supervised breathing and exercise tests to see if Trikafta helps your lung function and stamina.
Vancouver, British ColumbiaAges 19 years+ - NCT05264753Recruiting
Follow-up study for a device that closes an abnormal heart blood vessel
This study checks how well and how safely the Occlutech PDA Occluder works over time to close a patent ductus arteriosus (PDA). You may be considered if your PDA can be treated with this non-surgical device and you can return for follow-up visits.
MontrealAges Any age - NCT05308927Enrolling by invitation
Registry for children with Noonan syndrome on growth hormone
This trial is a real-world registry that collects information about children with Noonan syndrome who are treated with Norditropin (a growth hormone). It helps researchers understand how these children do over time in routine care.
AngersAges Any age - NCT05295433RecruitingPhase 1/Phase 2
Long-term follow-up for an mRNA vaccine dose you already received
This is a follow-up study that checks the long-term safety and health benefits of mRNA-3705 for people who took it in an earlier trial (or had to pause dosing due to COVID-19 vaccination). You may be invited if you completed the earlier study schedule or can transition early because you missed several doses.
Los Angeles, CaliforniaAges 1 year+ - NCT04522193Recruiting
Testing causes of dumping symptoms after esophagus repair
This study looks at how sugars move and how “dumping” symptoms happen in babies after surgery for an esophagus problem. It may help doctors understand what causes these symptoms and how to monitor them safely.
LilleAges 2 months–3 months - NCT02841553Recruiting
Online registry for Wolfram syndrome worldwide
This study builds an international online registry to learn how Wolfram syndrome (and related WFS1 conditions) changes over time. It may help researchers understand the disease course and improve future care by collecting health and family history data.
St Louis, MissouriAges birth+ - NCT04365998Recruiting
Testing a new light device for newborn jaundice
This study tests a new phototherapy (special light treatment) device to treat newborn jaundice. It may help by seeing whether this device can treat jaundice safely and effectively.
LilleAges Up to 4 weeks - NCT04645251Recruiting
Join a UK registry for polycystic liver disease
This registry is for people with polycystic liver disease who have a high number of liver cysts. It helps collect information about your condition to better understand and support future care.
NijmegenAges 18 years+ - NCT04826744Recruiting
Atopic dermatitis study tracking eyelid involvement
This study looks at how often the eyelids are affected in adults with atopic dermatitis (a long-term skin condition). It may help doctors better understand patterns of skin and eyelid symptoms so care can be improved.
LilleAges 18 years+ - NCT04911036Recruiting
Compare parent stress after diagnosis before versus after birth
This study looks at how the timing of a baby’s diagnosis—before birth (antenatal) versus after birth (postnatal)—affects parents’ stress and emotional reactions after their child has surgery. You may be able to contribute by sharing experiences as a parent of a child who had this specific surgery.
LilleAges 18 years+ - NCT05213598Recruiting
Biomarker study for liver disease after Fontan surgery
This study looks for blood and/or test markers that can better show how severe liver disease is in people who had the Fontan heart procedure. It also involves medical imaging and/or a liver biopsy or related procedures to help evaluate those markers.
Bethesda, MarylandAges 18–100 - NCT05237973Recruiting
Neuromuscular ultrasound study for healthy people and patients
This study uses an ultrasound scan to look at muscles and nerves (including the breathing muscle). It may help researchers better understand neuromuscular problems and how well ultrasound can detect them.
Bethesda, MarylandAges 18–110 - NCT05239858Recruiting
International registry for people with Wilson’s disease
This trial is a patient registry that collects health information from people with Wilson’s disease, including those without symptoms yet and those taking any type of treatment. It helps researchers understand the disease and how it progresses, which can support future studies and care improvements.
LeuvenAges 12 years+ - NCT05234567Recruiting
Study of children with HPP on (or starting) asfotase alfa
This study follows children with hypophosphatasia (HPP) to better understand how they do while receiving asfotase alfa. It may help improve care for families living with pediatric-onset HPP.
Hartford, ConnecticutAges Any age - NCT05248230RecruitingPhase 2
Study drug for adults with cystic fibrosis lung disease
This Phase 2 trial tests 4D-710 to improve lung health in adults with cystic fibrosis who either cannot take CFTR modulator medicines or are not doing well enough on them. You may be eligible if you have moderate lung function and stable oxygen levels, and you meet other safety and health requirements.
Birmingham, AlabamaAges 18 years+ - NCT05231798RecruitingPhase 2
PET and brain scans in adults with Down syndrome
This study looks at how well a brain chemical system works in adults with Down syndrome as they age, including how it relates to Alzheimer’s-type brain changes and thinking skills. It uses brain scans and memory/thinking tests to see whether these measures can help track risk or changes over time.
Nashville, TennesseeAges 18–55 - NCT05236595Enrolling by invitation
Personalized study for rare genetic diseases using genetic “target” drugs
This study looks for rare genetic conditions where a personalized genetic medicine (an antisense drug) could potentially work. If the team finds a “targetable” DNA or RNA change in your family, you may be followed to see how the best therapy could be planned.
Scottsdale, ArizonaAges Any age - NCT05209776Recruiting
Studying heart inflammation patterns in specific heart rhythm conditions
This study compares inflammation-related signals in people with arrhythmogenic right ventricular cardiomyopathy versus people having certain heart procedures for non-cancer, non-inflammatory reasons. It may help researchers better understand what drives abnormal heart rhythms in this condition.
ToulouseAges 18–99 - NCT05213676RecruitingPhase 4
Testing stopping inhaled nitric oxide in newborns with CDH
This trial studies whether stopping inhaled nitric oxide (a breathing medicine) can be safely used in newborns with congenital diaphragmatic hernia (CDH). It may help the team decide the best way to use this medicine during early newborn care.
Birmingham, AlabamaAges birth–1 month - NCT05234723Recruiting
CMV Infection Treatment Outcomes in Transplant Patients
This study tracks how well ganciclovir (an antiviral medicine) works in transplant recipients who develop a resistant CMV infection. Researchers will review medical records to understand treatment success and patient outcomes.
Houston, TexasAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,767 recruiting medical genetics studies from the U.S. registry right now, out of 5,497 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.