Clinical trials
Genetic Disorder clinical trials
Below are recruiting genetic disorder clinical trials, each written for real people, not researchers. We’re tracking 91 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT07348926Recruiting
Family well-being & independence in rare genetic disorders
This study looks at how a child's ability to function independently affects the well-being of their family. It is for caregivers of young children (0–4 years) with rare genetic disorders who have been in physiotherapy for at least 6 months.
IstanbulAges 18–65 - NCT06610695Enrolling by invitation
Bile acid PET/CT scan for genetic liver disorders
This study uses a special PET/CT scan with a tracer called 11C-Csar, which is similar to bile acid, to see how well your liver handles bile. It is for healthy people and those with genetic liver diseases that cause cholestasis (slowed bile flow). The goal is to improve diagnosis and understanding of these conditions.
AarhusAges 18 years+ - NCT06362473Recruiting
Italian Genetic Record for Lipid Disorders
This study creates a registry of people with inherited lipid disorders to better understand and track these conditions. It does not test a new treatment but helps researchers learn more about your condition.
Sesto San Giovanni, MilanoAges Any age - NCT01694940Recruiting
Mitochondrial disease registry and sample collection study
This trial builds a large database and collection of lab results, and possibly tissue samples, from people with suspected or diagnosed mitochondrial conditions. It helps researchers learn more about these disorders and mitochondrial DNA changes, which may improve future diagnosis and treatments.
San Diego, CaliforniaAges Any age - NCT06736158RecruitingEarly Phase 1
Genetic testing for inherited bleeding disorders
This trial uses early genetic testing to find the cause of unexplained bleeding in people who may have an inherited bleeding disorder. The goal is to see if genetic testing can help diagnose these conditions sooner.
Kingston, OntarioAges 12 years+ - NCT07445984Recruiting
Gene testing for blood cancer patients
This study looks at gene patterns in people with blood cancers to better understand the disease and find possible treatments. If you are being tested for a blood cancer or have a blood cancer that came back or got worse, you may be able to join.
Parma, PRAges 1 year+ - NCT06144957Enrolling by invitation
SLC13A5 deficiency natural history study (US only)
This study follows people with SLC13A5 deficiency (a rare genetic condition that affects brain development) to learn more about the disease over time. It collects health information, assessments, and samples to help understand the condition and plan future treatments.
Palo Alto, CaliforniaAges Any age - NCT04681781Enrolling by invitation
Remote study of SLC13A5 deficiency history
This study follows people with SLC13A5 deficiency to better understand how the condition changes over time, using surveys and clinical check-ins done remotely. If you (or your child) have this genetic condition, it may help researchers learn what symptoms to expect and how to track them.
Palo Alto, CaliforniaAges Any age - NCT01500447Recruiting
Study of inherited causes of low puberty hormones
This study looks at families to understand inherited (genetic or family-related) reasons some people have delayed puberty or develop puberty abnormally. It may help doctors better figure out the cause of low sex hormone levels and related hormone problems.
Bethesda, MarylandAges 1 month–120 years - NCT07008612Recruiting
Study of MYT1L syndrome in children and adults
This study looks at MYT1L syndrome, a rare genetic condition that affects brain development. It aims to understand the disorder better by studying people with the syndrome and a comparison group.
RouenAges 6 years+ - NCT07493096Recruiting
Intensive therapy program for children with brain-based conditions
This trial tests an intensive therapy program designed to help children with brain-based conditions like cerebral palsy or autism improve their skills in movement, thinking, and daily activities. The program runs for 2 weeks with daily sessions, and researchers will check for changes in your child's abilities.
The Woodlands, TexasAges 4–12 - 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 - NCT07049042Recruiting
Hormone study in genetic brain development conditions
This study looks at whether certain genetic brain development conditions affect hormone production in the body. It may help find out if people with these conditions have low sex hormones.
Sheffield, SelectAges birth–99 years - NCT06871696Recruiting
Genetics of intellectual disability and autism spectrum disorders
This study collects information about people with intellectual disabilities or autism that have a known genetic cause. Parents or family members can enter data about their child, and adults with the condition can also share their own experiences.
Paris, Île-de-France RegionAges 18 years+ - NCT03283852Recruiting
Genetic study for certain childhood hormone and development disorders
This study looks for new genetic causes of certain “development disorders” that involve hormone problems and how the body develops at puberty. It may help families understand the root cause, which can guide future care and testing.
ParisAges Any age - 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 - NCT05747976Recruiting
Study for children with very high body size measurements
This study is building a program database for children who have unusually high body size measurements for their age. By collecting genetic and health information, researchers hope to better understand causes of obesity and guide care.
Houston, TexasAges Any age - NCT06594913Recruiting
Eating Disorders Genetics Study
This study looks at genes linked to eating disorders. It compares people who have had certain eating disorders (like anorexia or bulimia) with people who have never had any eating problems, to find genetic differences.
Chapel Hill, North CarolinaAges 12–99 - NCT07329257Recruiting
Project PENGUIN: Study of rare brain development disorders
This study looks at rare and ultra-rare conditions that affect brain development. It aims to learn more about what causes these conditions. You may join if you or your child have a diagnosed or suspected neurogenetic disorder.
Columbia, MissouriAges Up to 99 years - NCT00001373Recruiting
Understanding the genetics of autoinflammatory diseases
This study collects genetic samples and medical histories from people with autoinflammatory diseases (like Familial Mediterranean Fever), their relatives, and healthy volunteers to understand how these conditions run in families and what causes them. Participation mainly involves providing a mail-in DNA sample.
Washington D.C., District of ColumbiaAges 2 months–115 years - NCT07412028Recruiting
Gene study in women with severe insulin resistance and PCOS
This study is looking for women with a type of severe insulin resistance linked to genetics, especially those who have PCOS or a condition called lipodystrophy. The goal is to better understand the genes involved so doctors can offer more targeted treatments.
ParisAges 18–45 - NCT00041600Recruiting
Brain Development and Genetic Study for Family Members
This research study investigates how genetic factors affect brain development and function in families where members have brain malformations, intellectual disability, or autism. Researchers hope to identify genetic causes that could lead to better understanding and future treatments.
Boston, MassachusettsAges Any age - NCT02257892Recruiting
Study of rare immune system genetic disorders
This study looks for genetic causes of immune problems, such as unusually frequent infections, abnormal allergies, or autoimmune or inflammation conditions. It may help by improving how doctors understand these disorders and by matching families with possible genetic diagnoses.
Bethesda, MarylandAges 3–99 - NCT05386134Recruiting
Adaptive eye imaging for inherited and acquired retinal conditions
This study tests a special high-detail camera that takes clearer pictures of the retina (the light-sensing layer at the back of the eye). It may help researchers better understand different retinal diseases—and your results could support future diagnosis and care.
Toronto, OntarioAges 5–70
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Common questions
- Are there clinical trials for genetic disorder?
- Yes. Clin2 currently lists 91 recruiting genetic disorder 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 disorder 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 disorder 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.