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
- NCT06382636Recruiting
Helping pregnant people make decisions about genetic testing
This study is for pregnant people who were offered prenatal genetic testing. It aims to help them make informed decisions about these tests, with the goal of improving pregnancy outcomes.
Cleveland, OhioAges 18–50 - NCT03102554Enrolling by invitation
Study genes in sex development differences and hypospadias
This study looks for genetic causes of differences in how a baby or child’s sex organs develop, including hypospadias. You may be able to join if doctors can’t find a reason using standard testing.
Boston, MassachusettsAges Any age - NCT07738003Recruiting
Perinatal Autism Genetics and Epigenetics Study
This study looks at genetics and other factors that may be linked to autism. Pregnant women in their first or second trimester are invited to join, and their babies will be followed to see how they develop.
Iowa City, IowaAges birth–50 years - NCT06374719Recruiting
TNNT1 myopathy natural history study
This study follows people with a rare genetic muscle condition called TNNT1 myopathy over time. Researchers will track how the disease progresses to better understand it and help plan future treatments.
Gordonville, PennsylvaniaAges Any age - NCT01858285Recruiting
Genetics study for children with epilepsy
This study looks for genetic (inherited DNA) causes of epilepsy in children. It may help your family better understand what could be driving seizures, even if the cause isn’t known yet.
Boston, MassachusettsAges Any age - NCT00582621Recruiting
Family history study to support genetic testing research
This study collects family and medical history to better understand inherited causes of blood cancers (like lymphoma) and related conditions. It may help researchers build genetic findings that could improve how families understand their risk and future care.
Basking Ridge, New JerseyAges Any age - NCT04727489Recruiting
Study genes in autism and related conditions using blood samples
This study looks for genetic reasons for autism by collecting blood samples from people with autism, people without autism, and their relatives. The results may help researchers better understand causes and risk factors, even if you only participate through testing a sample.
Grenoble, GrenobleAges 2–70 - NCT07165938Recruiting
Genetics of newborn brain injury study
This study looks for genes that may cause or increase the risk of brain injury in newborns. It may help researchers understand why some babies develop encephalopathy and could lead to better treatments in the future.
Boston, MassachusettsAges Any age - NCT05890911Enrolling by invitation
Studying dopamine pathways in breathing problems during sleep
This study looks at how dopamine-related brain pathways may be involved in sleep-related breathing problems. It may help researchers better understand what causes these conditions and how to evaluate them with sleep testing.
WroclawAges 18–80 - NCT03059420Recruiting
Genetic study of strabismus and certain birth eye-movement disorders
This study looks for genetic (inherited DNA) causes of strabismus (eyes that don’t line up) and certain birth conditions that affect eye movement and brainstem/cranial nerves. Your participation may help researchers better understand these conditions and guide future testing and care.
Boston, MassachusettsAges 1 day+ - NCT04770519Recruiting
Family genetic study for eye misalignment and nystagmus
This study looks at genetics in families where eye misalignment (strabismus) and/or constant eye shaking (nystagmus) runs. It may help researchers understand the causes and guide future testing or treatments.
Boston, MassachusettsAges Any age - 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 - NCT07389720Recruiting
Sensorimotor pathways in children with autism
This study looks at how the brain controls movement and senses in children with autism compared to typically developing children. It also includes infants with a family history of autism and parents of all participants.
Bosisio Parini, LeccoAges 1 year+ - NCT02878408Recruiting
Study of immune and genetics factors in bipolar or schizophrenia
This study looks at how the immune system, genetics, inflammation, and past exposures may relate to bipolar disorder or schizophrenia. It may help researchers understand the cause and find better ways to support people with these conditions.
Créteil, FranceAges 16 years+ - NCT04680130Enrolling by invitation
Study of brain, genetics, and clinical symptoms in neurodegenerative illness
This study looks at how your symptoms, brain imaging (MRI), and genetic factors relate to neurodegenerative conditions. It may help researchers better understand what causes these illnesses and how to classify them.
Rochester, MinnesotaAges 21 years+ - NCT07304193Enrolling by invitation
Study of sex chromosome disorders in fetuses
This study looks at the genetics of fetuses with sex chromosome disorders. It compares them to fetuses without these conditions to understand more about how these disorders affect development.
AarhusAges 3 months–5 months - 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 - NCT02720679Recruiting
Study genetics behind blood disorders in children and families
This study looks at genetic (DNA) factors that may contribute to certain blood disorders. You may be invited if you or a close family member is receiving care for a blood condition like MDS or MPN, and the study also includes related relatives.
Memphis, TennesseeAges Any age - NCT06666777Recruiting
Speech therapy and parenting for early communication skills
This study tests a program that combines speech therapy with parenting support to help young children with developmental delays improve their communication and social skills. It is designed for children aged 6 months to 5 years who have developmental challenges, and their parents.
Como, ComoAges 6 months–4.9 years - NCT02910180Recruiting
Biobank study of genetic and metabolic data in brain blood vessel disease
This study collects genetic and other health information from people with brain blood vessel (cerebrovascular) problems. It aims to help researchers understand causes and patterns that could lead to better care in the future.
Los Angeles, CaliforniaAges 18 years+ - NCT07341412Enrolling by invitation
Study of sex chromosome disorders in fetuses and children
This study looks at the genetic and physical health of babies and children who have a sex chromosome disorder (like having an extra or missing X or Y chromosome). It also compares them to children without these conditions. The goal is to learn more about how these disorders affect development.
AarhusAges birth–50 years - NCT02431845Recruiting
Study of OCD genes, proteins, and gut microbes
This study looks at genes, blood/brain proteins, and gut microbes in people with obsessive-compulsive disorder (OCD). It may help researchers understand what drives OCD and how treatments could be better tailored in the future.
SeoulAges 19–70 - NCT06334588Recruiting
Autism brain study using MRI and social thinking tasks
This study uses MRI brain scans (already needed for medical reasons) to better understand how autism affects social thinking. It compares people with autism to healthy volunteers to see differences in brain activity.
ParisAges 3 months–28 years - 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
Hear when a new Genetic Disorder trial opens
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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.