Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- 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
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT07037862RecruitingPhase 1/Phase 2
Study of ENTR-601-44 for Duchenne muscular dystrophy (exon 44 skipping)
This trial tests a new medicine called ENTR-601-44 for people with Duchenne muscular dystrophy whose genetic mutation can be treated by skipping a part of the gene called exon 44. The goal is to see if it is safe and helps with muscle function.
GhentAges 4–20 - NCT07038200RecruitingPhase 3
Study of Del-brax (AOC 1020) for People with FSHD
This study tests an experimental medicine called Del-brax (AOC 1020) for people with facioscapulohumeral muscular dystrophy (FSHD). The goal is to see if it can help improve muscle strength and slow the disease. You may be able to join if you have a confirmed FSHD diagnosis and can walk at least 10 meters on your own.
Orange, CaliforniaAges 16–70 - NCT07037901RecruitingPhase 2
Testing IMG-007 for moderate-to-severe eczema
This study tests a new medicine called IMG-007 for adults with moderate-to-severe eczema (atopic dermatitis) that hasn't gotten better with standard creams. The goal is to see if it safely reduces itching and skin symptoms.
Lancaster, CaliforniaAges 18–74 - NCT07036731Recruiting
Urine test study for second bladder surgery
This trial compares the need for a second surgery for people with early-stage bladder cancer. It uses a simple urine test to see if the test can help decide whether a second operation is necessary, which could save some patients from an extra procedure.
Nanjing, JiangsuAges 18–80 - NCT07039734Recruiting
Ovarian reserve in Fragile X premutation carriers
This study looks at egg supply (ovarian reserve) in women who carry the Fragile X premutation. It aims to understand fertility potential better and help guide future family planning.
Paris, FranceAges 18–40 - NCT07038239Recruiting
MORC2 gene mutation study for nerve and brain conditions
This study looks at how changes in the MORC2 gene relate to nerve or brain development problems. It may help doctors better understand these conditions and improve care.
BesançonAges 4 years+ - NCT07035028Recruiting
Scalp stimulation test for baby's oxygen levels during labor
This trial tests a simple, non-invasive scalp stimulation on your baby's head during labor to see if it can predict whether your baby is getting enough oxygen, potentially avoiding the need for a more invasive blood test.
MadridAges 18–50 - NCT07039084Recruiting
Tablet for helping children with rare genetic conditions communicate
This study tests whether a speech-generating tablet (like an iPad with a communication app) can help children with rare genetic conditions who are minimally verbal (using fewer than 50 words) to communicate better. If your child fits the criteria, they could get a device and training to see if it helps them express themselves more easily.
Melbourne, VictoriaAges 3–12 - NCT07036848Recruiting
Surgery for type IVa bile duct cyst
This study tests how well and safely a surgery works for treating a certain type of bile duct cyst (Todani type IVa). It aims to improve outcomes for people who need this operation for the first time.
Beijing, Beijing MunicipalityAges Up to 80 years - NCT07039799Recruiting
Virtual reality for arm function in Duchenne
This trial tests whether using virtual reality (VR) games can help improve arm and hand function in people with Duchenne muscular dystrophy. It may be a fun and engaging way to do exercises that strengthen your upper body.
Istanbul, FatihAges 7–18 - NCT07040774Recruiting
Study of type 1 interferonopathies in Europe
This study looks at people with a confirmed type 1 interferonopathy, a rare immune condition caused by a gene change. It aims to learn more about how the condition progresses over time.
InnsbruckAges Any age - NCT07039552Recruiting
Ovarian cancer risk check for family members
This study looks at family members of people with ovarian cancer to build a better tool for predicting their risk. If you have a BRCA1 or BRCA2 gene mutation, you may be able to join.
Beijing, Beijing MunicipalityAges 18 years+ - NCT07037238RecruitingPhase 2
Everolimus for treating vascular malformations
This study tests a drug called everolimus to see if it helps treat vascular malformations (abnormal clusters of blood vessels). It is for adults aged 18 to 65 who have been diagnosed by MRI and are able to take oral medication.
BeijingAges 18–65 - NCT01793168Recruiting
Rare disease registry and history study
This study keeps a registry (a structured list) of people with rare diseases and may also track how the condition changes over time. It can help researchers better understand rare illnesses and find gaps in care, which may improve future treatments.
Sioux Falls, South DakotaAges Any age - NCT06725901Recruiting
Platform to support genetic diagnosis in children
This trial is building a platform to help doctors diagnose rare genetic diseases in children. It asks neuropediatricians at a specific hospital to share their experience and help improve the process of referring kids to genetic specialists.
Valparaíso, ValparaisoAges Any age - NCT06975982Recruiting
Lung function and frailty in children with esophageal atresia
This study compares breathing, muscle strength, and frailty in children who had esophageal atresia repair with healthy children. It aims to understand how this condition affects lungs and everyday physical abilities.
Ankara, AnkaraAges 6–18 - NCT07024316RecruitingPhase 1/Phase 2
Oral ciclopirox for skin sensitivity in CEP
This trial tests an oral medication called ciclopirox (ATL-001) to see if it can reduce skin sensitivity to sunlight in adults with CEP. It aims to improve the skin lesions caused by this rare disease.
Cleveland, OhioAges 18 years+ - NCT07027345RecruitingPhase 2
Topical TolaSure cream for epidermolysis bullosa simplex
This study tests a medicated cream called TolaSure on skin affected by epidermolysis bullosa simplex (EBS), a condition that causes fragile skin and blistering. The cream aims to reduce blistering and improve healing by targeting a faulty protein in the skin. It is for people with localized, intermediate, or severe EBS who are currently having active blistering.
Palo Alto, CaliforniaAges 2 years+ - NCT07024693RecruitingPhase 2
Study of DT-168 for corneal transplant patients with Fuchs dystrophy
This trial tests an investigational eye drop (DT-168) in people with Fuchs endothelial corneal dystrophy who are already scheduled for a corneal transplant. The goal is to see if DT-168 can improve outcomes or delay the need for surgery.
Indianapolis, IndianaAges 30 years+ - NCT07029594Recruiting
Thermal spa for Primary Ciliary Dyskinesia (PCD)
This trial tests whether a stay at a thermal spa can improve symptoms of Primary Ciliary Dyskinesia (PCD), a genetic lung condition. It's for adults with stable PCD who haven't had a recent infection or spa treatment.
NiceAges 18 years+ - NCT07031323Recruiting
OnTrackCF: Using a smartphone app to help manage CF treatment
This study tests a smartphone app designed to help people with cystic fibrosis stay on track with their twice-daily CFTR modulator medication. Researchers want to see if the app is easy to use and helpful.
Birmingham, AlabamaAges 18 years+ - NCT07029230Recruiting
Blood test during heart surgery to predict heart failure in kids
This study looks at a substance called sST2 in the blood of children having heart surgery. The goal is to see if sST2 levels can help doctors predict heart failure after surgery.
Zurich, Canton of ZurichAges Up to 18 years - NCT07027020RecruitingPhase 3
Bladder oxybutynin for children with spina bifida
This trial tests a liquid form of the medication oxybutynin placed directly into the bladder (via catheter) for children with spina bifida who have bladder overactivity. It may be an option if oral medications haven't worked well or caused side effects.
BesançonAges 6–17 - NCT07029282RecruitingPhase 3
Vitamin supplement study for pregnant women and new moms
This trial tests a special vitamin supplement (MMSPlus) given before and after birth to improve baby growth. Pregnant women with a healthy single baby can join, and then continue after birth if they plan to breastfeed.
Karachi, SindhAges 15–49
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.