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
- NCT05253560Recruiting
Study prodromal Parkinson signs in GBA1 mutation carriers
This study looks at early (before full disease) Parkinson-like symptoms in people who carry a specific genetic change called GBA1. It may help researchers understand who could develop Parkinson’s and how early signs can be tracked.
Jerusalem, Please Select...Ages 40–75 - NCT05250284Recruiting
Study of cancer care support for working men’s well-being
This study looks at how cancer treatment care affects the well-being of working men during the first months after diagnosis. It may help identify ways to support you while you continue working or plan to return to work.
Aurora, ColoradoAges 21–70 - NCT05224778Recruiting
Study for young children with neonatal myotonic dystrophy type 1
This study looks at measurements and child-focused outcomes in babies and toddlers with myotonic dystrophy type 1 (DM1) that started in the newborn period. It may help researchers better track how the condition affects children and evaluate care plans more accurately.
Los Angeles, CaliforniaAges Up to 4.9 years - NCT05241262RecruitingPhase 1
N-acetylcysteine for people with m.3243A>G and low brain glutathione
This trial tests whether the supplement N-acetylcysteine (NAC) can help people who have the m.3243A>G mitochondrial genetic change and low levels of a brain chemical called glutathione. The study aims to see if raising glutathione in the brain is safe and potentially beneficial for these patients.
New York, New YorkAges 18–80 - 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+ - 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 - NCT05214742Enrolling by invitation
Using stem cells to study rare growth disorders
This study looks at rare growth conditions (Silver-Russell, Beckwith-Wiedemann, and Temple syndrome) by creating lab cell models from patient information. It aims to help researchers better understand why these disorders happen and how they work.
ParisAges 3 months+ - NCT05253196Recruiting
Enema device study for children with spina bifida
This trial tests an enema device to help children and young adults with spina bifida better manage bowel leaks. If you already do regular enemas, the study will see whether the device makes bowel care easier and more effective.
Aurora, ColoradoAges 2–30 - NCT05238909Enrolling by invitation
Tracking tumor burden in people with NF1
This study looks for better ways to measure how much tumor activity people with neurofibromatosis type 1 (NF1) have over time. The goal is to develop “biomarkers,” which are test results that may help doctors track disease more easily.
Chicago, IllinoisAges Any age - NCT05183165Recruiting
Study measures copper levels in breast milk for Wilson’s disease
This study measures how much copper is present in breast milk in people with Wilson’s disease. It aims to provide safer guidance for breastfeeding during treatment, including during pregnancy.
ParisAges 18 years+ - NCT05170412Recruiting
Diet habits study for adults with sickle cell disease
This study asks adults with sickle cell disease about what they eat and their eating routines. The goal is to understand diet patterns in sickle cell and how they may relate to health, which could help future care and guidance.
Bethesda, MarylandAges 18–120 - NCT05189925RecruitingPhase 1
Correcting a missing immune enzyme using an mRNA cell therapy
This early-phase trial tests whether an mRNA-based treatment can correct a key immune problem in people with chronic granulomatous disease (CGD). It may help your immune cells work better against infections, but this is mainly to check safety and early signs of benefit.
Bethesda, MarylandAges 18–75 - NCT05145127RecruitingPhase 3
Marstacimab follow-up study for people with hemophilia
This Phase 3 study looks at how well and how safely marstacimab works over a longer follow-up period. You may join if you already finished a related parent study for hemophilia, and you can keep up with frequent visits and lab tests.
Iowa City, IowaAges 1–74 - NCT05145010Enrolling by invitationPhase 2
Infigratinib follow-up for children with achondroplasia
This trial studies how well infigratinib works and remains safe for children with achondroplasia. It includes children who already took infigratinib in a prior QED study, and some who are starting treatment for the first time.
Oakland, CaliforniaAges 3–18 - NCT05171894RecruitingPhase 2
Test of lower light dose for port-wine birthmarks
This Phase 2 study tests whether using a lower light dose during a treatment called Hemoporfin PDT can safely shrink port-wine birthmarks (PWB). It aims to find a dose that works well while causing fewer side effects.
Irvine, CaliforniaAges 18–75 - NCT05163288RecruitingPhase 3
N-acetyl-leucine trial for Niemann-Pick disease type C
This Phase 3 trial tests whether N-acetyl-leucine can improve symptoms in people with Niemann-Pick disease type C (NPC). If you qualify, you will be asked to take study medicine and complete symptom and movement tests over time.
Rochester, MinnesotaAges 4 years+ - NCT05142189RecruitingPhase 1
Testing BNT116 for advanced non-small cell lung cancer
This trial tests an experimental immunotherapy called BNT116, given alone or with other drugs, for people with advanced non-small cell lung cancer (NSCLC). The goal is to see if it is safe and if it can help shrink tumors.
Lexington, KentuckyAges 18 years+ - NCT05159739Enrolling by invitation
Study of family genetic risk for joint implant infections
This study looks at whether certain families have a higher genetic risk for infections around joint implants. It may help researchers understand who is more at risk and how to prevent these infections.
Salt Lake City, UtahAges 18–100 - NCT05139797Recruiting
AI-guided heart ultrasound screening for suspected amyloidosis
This study tests whether an artificial-intelligence system can help decide who should get a special heart workup for a rare disease called cardiac amyloidosis. If you have signs that make doctors suspect this, the AI-guided ultrasound screening may help find it sooner.
Los Angeles, CaliforniaAges 18 years+ - NCT05146193Recruiting
AI tool that analyzes spine curves from images
This trial is testing an AI computer system that automatically measures scoliosis and related spine curve problems using medical images. If you qualify, you may be asked to have or allow specific imaging so the system can be checked for accuracy and usefulness.
Hong KongAges 10–80 - NCT05181748RecruitingPhase 2/Phase 3
Platelet-rich plasma into ovaries for low egg response
This trial tests whether injecting your own platelet-rich plasma (PRP) into the ovaries can improve egg production in people who don’t respond well to fertility stimulation. It may help some “poor responders” get more usable eggs for IVF.
Athens, AtticaAges 35–47 - NCT05152823Enrolling by invitationPhase 1/Phase 2
Gene therapy for IGHMBP2-related nerve conditions
This early-phase study tests a gene therapy meant to treat people who have IGHMBP2 gene changes. It aims to improve the way the nervous system works and to see if the treatment is safe, especially in young children.
Columbus, OhioAges 2 months–14 years - NCT05158049Enrolling by invitation
Study of bionic eye outcomes over time
This study follows people who already have an implanted bionic eye device to see how they do over time. It may help researchers understand what to expect day to day and guide future care.
Melbourne E., VictoriaAges Any age - NCT05146830Enrolling by invitation
Long-term follow-up for people previously treated for cystinosis
This study checks how people with cystinosis are doing long-term after finishing an earlier study medicine called CTNS-RD-04. It may help researchers understand the lasting effects and safety of that treatment over time.
La Jolla, CaliforniaAges 14–50
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.