Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,863 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis129
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease39
- Hemophilia A39
- 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 Human Genome Research Institute (NHGRI)23
Where studies are running
- California339
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona77
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,863 total
- NCT03750266Recruiting
3D models to help manage babies with diaphragmatic hernia
This study uses 3D animation and physical models to help plan care for pregnancies where the baby has diaphragmatic hernia (CDH). It may help patients and clinicians understand the baby’s condition better and make management decisions more easily.
Sheffield, South YorkshireAges 18 years+ - NCT07606274RecruitingPhase 1/Phase 2
Study of NVC-001 for heart muscle disease caused by LMNA gene change
This trial tests an experimental drug called NVC-001 for people with a specific genetic heart condition (LMNA-related dilated cardiomyopathy) that causes the heart to become weak and enlarged. The goal is to see if the drug can help improve heart function.
Birmingham, AlabamaAges 18 years+ - NCT07080905RecruitingPhase 3
Gene therapy for teens with severe hemophilia B
This trial tests a single dose of CSL222, a gene therapy, in adolescent boys with severe or moderately severe hemophilia B. The goal is to see if it can reduce or eliminate the need for regular factor IX infusions.
Orange, CaliforniaAges 11.5 years–17.2 years - NCT06615206Recruiting
First CRISPR RNA therapy for MECP2 duplication syndrome
This trial tests a new CRISPR therapy that edits RNA to treat a rare genetic condition called MECP2 duplication syndrome (MDS). It is for boys aged 2 to 18 who have stable seizures and no other major health problems, with the goal of improving symptoms and safety.
Beijing, Beijing MunicipalityAges 2–18 - NCT06585800Enrolling by invitation
Studying gene changes in tissues
This study looks at genetic changes that occur naturally in human tissues. If you are already scheduled for surgery or a procedure like a biopsy or endoscopy, researchers may ask for a small tissue sample to study how our cells can change over time.
CambridgeAges 18 years+ - NCT06501092Recruiting
Study of the Point Mini prosthetic hand for children
This study tests a new type of prosthetic hand device called the Point Mini. It is designed for children and teens who have partial hand differences, and aims to see how well it works in everyday use at home.
Lafayette, ColoradoAges 3–17 - NCT06357845Recruiting
East Palestine chemical exposure and genetic change study
This study looks at whether the chemical spill in East Palestine in 2023 caused changes in people's genes. It involves giving a blood or saliva sample to measure any tiny genetic changes linked to the exposure. It helps researchers understand long-term health risks.
Cleveland, OhioAges 18 years+ - NCT05448326Recruiting
Revisiting test results for children and adults without a diagnosis
This study re-checks earlier genetic testing for people who still do not have a diagnosis for a developmental or physical difference. It may offer new genetic testing (like genome sequencing) using new or stored samples to help find a cause when the first results were unclear or negative.
DijonAges Any age - NCT05020158Recruiting
Family Talk support after a serious illness in the family
This trial tests a “Family Talk” support program for families dealing with a child’s life-threatening or life-limiting illness. It aims to help families talk and cope together during the early period after diagnosis or relapse.
StockholmAges 6 years+ - NCT04604418Recruiting
Tracking outcomes during non-heart procedures in children with heart defects
This study looks at how children with congenital heart disease do during routine non-heart procedures, including medical or minor treatments that are not heart-related. It also measures how much health care they use afterward, which may help improve care planning for families.
Los Angeles, CaliforniaAges Up to 21 years - NCT06880991Recruiting
Study on visible tumors in neurofibromatosis type 1
This study talks with people who have NF1 (and caregivers of children with NF1) about how visible tumors affect them. The goal is to create questionnaires that measure these concerns, which could lead to better support and treatments.
Bethesda, MarylandAges 5–120 - NCT07749586RecruitingPhase 1/Phase 2
Study of ARV-6723 alone or with pembrolizumab for advanced solid tumors
This trial tests an experimental drug called ARV-6723, alone or with another drug called pembrolizumab, for people with advanced solid tumors that have not responded to other treatments. The goal is to see if these combinations can help shrink tumors or slow their growth.
Huntersville, North CarolinaAges 18 years+ - NCT07750379Recruiting
Acid-reducing medicine for aspiration in children with laryngomalacia
This study tests whether giving a common acid-reducing medicine (a proton pump inhibitor) to children with laryngomalacia can reduce choking and aspiration. It may help if your child has frequent choking episodes.
Minya, Minya GovernorateAges 6 months–5 years - NCT07555171Enrolling by invitation
Brain Wave Changes During Fenfluramine Treatment in Lennox-Gastaut Syndrome
This study tracks how brain wave patterns change when children and young adults with Lennox-Gastaut Syndrome (a severe seizure disorder) take fenfluramine, a medication that helps reduce drop seizures. Researchers will use EEG (brain wave recordings) to understand how this treatment affects the brain.
Chicago, IllinoisAges 2–35 - NCT07416604RecruitingPhase 3
Study of NXT007 vs emicizumab for hemophilia A
This trial tests if a new medicine, NXT007, is better than emicizumab at preventing bleeding episodes in people with hemophilia A. It may be an option for those with or without inhibitors who are willing to switch to a preventive treatment.
Orange, CaliforniaAges 12 years+ - NCT06612541Recruiting
Eye imaging test for premature babies at risk of ROP
This study tests a new eye imaging device to check for retinopathy of prematurity (ROP), a condition that can affect vision in premature babies. It may help doctors diagnose ROP earlier and more easily at the bedside.
Nashville, TennesseeAges 6 months–8 months - NCT07700225Recruiting
Long-term study of myotonic dystrophy type 1
This study is a long-term follow-up for people with myotonic dystrophy type 1. It aims to find better ways to measure how the disease progresses, which could help develop future treatments.
Richmond, VirginiaAges 18–70 - NCT06461897RecruitingPhase 3
Comparing upadacitinib to dupilumab for eczema in children
This study tests whether an oral medicine (upadacitinib) works as well as a shot (dupilumab) for children aged 2 to 12 with moderate to severe eczema. It aims to see which treatment better controls symptoms like itching and skin rashes.
Little Rock, ArkansasAges 2–11 - NCT05374824Recruiting
Palliative surgery versus more seizure medicines for Lennox-Gastaut
This trial compares two treatment approaches for children with Lennox-Gastaut syndrome: palliative (comfort-focused) surgery versus adding more anti-seizure medicines. It aims to see which option works better for seizure control and day-to-day well-being.
Chicago, IllinoisAges Up to 26 years - NCT07673302Recruiting
Study of drugs to boost fetal hemoglobin in beta thalassemia
This trial tests if certain drugs can safely increase fetal hemoglobin (a type of hemoglobin that helps carry oxygen) in people with beta thalassemia major. It may offer a new way to manage the condition and reduce the need for transfusions.
Rawalpindi, Punjab ProvinceAges Any age - NCT04715191RecruitingPhase 1
CAR T therapy for GPC3-positive pediatric solid tumors
This Phase 1 study tests a customized immune-cell treatment (CAR T cells) made to recognize GPC3, a marker found on some tumors. It’s designed for children and young people whose solid tumors have not been cured by standard treatment and who can safely receive this therapy.
Houston, TexasAges 1–21 - NCT07290803Recruiting
Atopic dermatitis treatment registry for teens and adults
This study is a long-term registry for adolescents and adults with atopic dermatitis (eczema) who are starting or switching to a systemic medication (a drug that works throughout the body). It will track how these treatments work in real life and how patients feel over time.
Birmingham, AlabamaAges 12 years+ - NCT07223697RecruitingPhase 2
Long-term safety of Afimkibart for eczema patients
This study tests the long-term safety and effectiveness of a medicine called Afimkibart for people with atopic dermatitis (eczema). It is for people who already completed a previous study of this medicine and had at least a 50% improvement in their eczema.
Los Angeles, CaliforniaAges 18 years+ - NCT07643766RecruitingPhase 2
Testing ENV-294 for moderate-to-severe atopic dermatitis
This study tests whether a new medication called ENV-294 can help adults with moderate-to-severe atopic dermatitis (eczema) that hasn't responded well to other treatments. The trial will check if the drug reduces itching and skin inflammation safely.
Encinitas, CaliforniaAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,863 recruiting medical genetics studies from the U.S. registry right now, out of 5,730 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.