Clinical trials
Genetic Disease clinical trials
Below are recruiting genetic disease clinical trials, each written for real people, not researchers. We’re tracking 225 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT03287193Recruiting
Study genes behind rare, genetic-looking illnesses
This study is trying to find the gene or body-process cause of rare diseases (or rare forms of common diseases) when the reason is not yet understood. If you qualify, you may be asked to give genetic and health information that could help doctors diagnose and understand the condition better.
DijonAges Any age - 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 - NCT04586075Recruiting
Get help finding the cause of an undiagnosed genetic condition
This study evaluates people whose medical cause is still unclear even after genetic tests and other workups. It uses coded health data and lab samples to look for a new or rare genetic cause, and it may return additional (“secondary”) genetic findings.
Madison, WisconsinAges Up to 100 years - NCT05499091Recruiting
Study rare disease genetics using family and health data
This study tries to find genetic causes for rare diseases that are not yet understood. It uses a national rare-disease data bank and collects consent from patients and sometimes close family members.
AngersAges Any age - NCT06435468Recruiting
Biocollection for rare childhood-onset immune diseases
This study collects blood and tissue samples from patients with rare immune system diseases that started in childhood, and from their relatives and healthy volunteers. The goal is to build a biocollection for future research to better understand these diseases.
Bron, BronAges 1 year+ - NCT06898307Recruiting
Genetic test study for inherited heart rhythm conditions
This study uses genetic testing to better diagnose, predict, and manage inherited heart rhythm diseases. It is designed for patients at the University of Ferrara's Cardiogenetic Center who have a confirmed genetic heart condition.
FerraraAges Any age - NCT06926127Recruiting
Genomic study for rare and genetic diseases
This study aims to use advanced genetic testing to better understand rare and genetic diseases. It may help find a diagnosis or guide personalized care for you or your child.
Rome, LazioAges 1 minute–90 years - 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 - NCT00001405Recruiting
Blood Cell Collection Study for Immune and Blood Disorders
This study collects blood cells and bone marrow from people with immune system or blood disorders, and from healthy volunteers. Researchers will study these cells and may convert them into special stem cells (iPS cells) to better understand diseases and develop treatments.
Bethesda, MarylandAges 18–70 - NCT02650622Recruiting
Study of genetic and metabolic diseases in children
This study looks at children who may have genetic (inherited) or metabolic (body chemistry) problems, including newborn screening and episodes of trouble. The goal is to better understand these conditions and identify children who may benefit from further care.
Dallas, TexasAges 1 day+ - NCT05432349Recruiting
Rett syndrome genetic registry for MECP2 changes
This trial is a registry that collects health and genetic information from people with Rett syndrome. It may help researchers better understand how MECP2 loss-of-function changes lead to symptoms and how to support patients.
Birmingham, AlabamaAges birth–99 years - NCT07608432RecruitingPhase 3
Testing a New DMD Treatment Given Every 4 Weeks
This study tests whether a new medicine called zeleciment rostudirsen can help ambulatory (walking) males with Duchenne muscular dystrophy (DMD). The medicine is given as an intravenous infusion (through a vein) every 4 weeks and works by helping the body produce a protective muscle protein.
Hillsborough, North CarolinaAges 4–18 - NCT06235580Recruiting
Genetics and immune-brain health study
This study looks at genetic diseases that affect the immune system and the brain. It aims to better understand these conditions by comparing patients, their relatives, and healthy controls.
Paris, Île-de-France RegionAges Any age - NCT07365254Recruiting
Newborn whole genome sequencing for genetic disease risk
This study looks at using whole genome sequencing in newborns and families with ongoing pregnancies, including those conceived naturally or with fertility treatments. It aims to better understand and manage genetic disease risks early.
Hangzhou, ZhejiangAges Any age - NCT00478712Recruiting
Genetic study of Hirschsprung disease and family members
This study looks at genes in people with Hirschsprung disease and in their first-degree relatives (parents, siblings, and children). It may help researchers understand why Hirschsprung disease happens and how it can vary between families.
New York, New YorkAges 1 week–100 years - NCT07587242RecruitingPhase 3
Testing a New Therapy for DMD with Exon 44 Mutations
This study tests whether a new medicine called AOC 1044 (delpacibart zotadirsen) can help boys with Duchenne muscular dystrophy (DMD) who have a specific genetic mutation. The medicine works by helping the body skip a damaged part of the gene to make a functional protein.
LeuvenAges 7–16 - NCT05587439Recruiting
Study of inherited genetic risk in lung and related cancers
This study looks for inherited (family-passed) genetic changes that may raise the risk of lung cancer and related thoracic cancers. It may help people and families understand their genetic risk by collecting health information and sometimes specimens from patients and relatives.
Boston, MassachusettsAges 18 years+ - NCT06057181Recruiting
Helix research network for adults
This study is a research network that collects health information from adults to better understand health and disease. It is open to most adults who are willing to follow the study procedures.
Fort Wayne, IndianaAges 18 years+ - NCT06917690RecruitingPhase 3
Testing oleogel-S10 for epidermolysis bullosa in Japanese patients
This trial tests a gel called oleogel-S10 on wounds caused by a rare skin condition called epidermolysis bullosa (EB). It is only for people of Japanese descent who have a specific type of EB called junctional or dystrophic EB. The gel is put on the wound to help it heal.
FukuokaAges 3 weeks+ - NCT06306521Recruiting
Newborn screening for hundreds of genetic diseases by genome sequencing
This research study tests a new way to screen newborns for hundreds of genetic diseases using a sample of their blood or saliva. It aims to find conditions early so your baby can get the right care sooner.
San Diego, CaliforniaAges 1 day–4 weeks - NCT06672237RecruitingPhase 3
Study of NTLA-2001 for hereditary ATTR amyloidosis with nerve damage
This study is testing a new gene-silencing treatment called NTLA-2001 for people with hereditary ATTR amyloidosis that causes nerve damage. It works by stopping the body from making a faulty protein that builds up and harms nerves.
Buenos AiresAges 18–85 - NCT06775561Recruiting
Study of hidden DNA causes for rare neuromuscular and epilepsy diseases
This study is for people with a neuromuscular disease or epilepsy whose genetic testing hasn't found a clear answer. It uses advanced techniques to look at parts of the DNA that don't code for proteins, to find hidden causes and help guide future treatments.
BolognaAges Any age - NCT02471287Recruiting
Genetics study for inherited eye conditions
This study looks at genes in people with inherited eye conditions and in close family members who may or may not have the condition. It helps researchers understand what causes these eye diseases and how they might be better studied in the future.
Bethesda, MarylandAges 1–120 - NCT05876416Recruiting
Study genetics of rare bone growth disorders
This study looks at genetic causes of skeletal (bone growth) disorders in people who show signs based on height and bone imaging. Genetic testing may help explain what’s behind the condition, especially when it seems inherited.
StockholmAges Any age
Hear when a new Genetic Disease trial opens
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Genetic Disease trials by city
Studies with a site in or near these metro areas.
Genetic Disease trials by state
Studies with a site anywhere in these states.
Common questions
- Are there clinical trials for genetic disease?
- Yes. Clin2 currently lists 225 recruiting genetic disease studies from the U.S. registry, each rewritten for real people, not researchers, so you can see what it’s testing and who it’s for.
- How do I know if I qualify for a genetic disease trial?
- Each study lists its eligibility criteria — rules about age, diagnosis, and prior treatments. On every Clin2 trial page we explain these in words written for real people and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Does it cost anything to join a genetic disease trial?
- Using Clin2 is always free. Many trials cover the cost of the study treatment and related visits; some reimburse travel. The study team explains exactly what’s covered before you decide.
Related conditions
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov. Talk with your doctor about whether a specific trial is right for you.