Clinical trials
Genetic Disorder clinical trials
Below are recruiting genetic disorder clinical trials, each written for real people, not researchers. We’re tracking 93 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- 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 - NCT00341874Enrolling by invitation
Genetic study of deafness in Pakistani families
This study looks at genetic causes of deafness by comparing affected and unaffected family members. It may help researchers understand why some people are born or develop deafness and guide future diagnosis for families in Pakistan.
LahoreAges 2 years+ - NCT03781752RecruitingPhase 4
Test of methylphenidate effects based on a genetic difference
This trial studies whether a genetic difference called “carboxylesterase 1” changes how methylphenidate (a common ADHD medicine) works for children with ADHD. It’s a single-dose test, meant to help understand why some children respond differently to ADHD medication.
Gainesville, FloridaAges 6–17 - NCT07653412Recruiting
Genetic test for predicting weight loss drug response
This trial looks at whether your genes can predict how well you will respond to weight loss medications like semaglutide (Wegovy/Ozempic) or tirzepatide (Mounjaro). It may help doctors choose the right drug for you based on your DNA.
AthensAges 18 years+ - NCT05318222Recruiting
Virtual genetic evaluation for undiagnosed rare disease
This study helps children who have a rare genetic illness but have not yet received a diagnosis. It uses virtual evaluation to try to find answers and possible next steps for care.
Edinburg, TexasAges 1 day–18 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 - NCT06630104Recruiting
Studying blood cell changes after CAR-T therapy for blood cancers
This study looks at how CAR-T therapy affects blood cell counts (cytopenia) in people with multiple myeloma or certain lymphomas/leukemias. You will provide biological samples to help researchers understand these effects.
Scottsdale, ArizonaAges 18 years+ - NCT03987633Recruiting
Study links health records and samples to understand health gaps
This study asks people affected by a specific illness (or their family member) to share saliva (and sometimes blood) and answer health and quality-of-life questions. The goal is to better understand and reduce health inequality by matching new information with medical records.
Wolverhampton, West MidlandsAges 6 years+ - NCT06058702RecruitingPhase 1
Genetics of cannabis use disorder and response
This study looks at how genes affect cannabis use disorder and how people respond to cannabis. It may help explain why some people develop problems with cannabis while others do not.
West Haven, ConnecticutAges 21–60 - NCT06803784Recruiting
Bioproducts in body fluids for early brain disease detection
This study is looking for proteins in blood and other body fluids that could help detect brain diseases like Parkinson's, Alzheimer's, and ALS early. It aims to improve diagnosis and future treatments.
Pozzilli, ItalyAges 20 years+ - NCT05437588Recruiting
Blood-based biomarkers for suicide risk in teens with depression
This study looks at tiny blood particles (exosomes) and specific microRNAs to see if they can signal suicide risk and predict treatment outcomes in adolescents. If you qualify, your blood may be used to help researchers find better ways to understand and track suicidality and depression treatment response.
Birmingham, AlabamaAges 10–24 - NCT00230165Recruiting
Genetics and blood testing for inherited bleeding disorders
This study looks at genes and blood function in people with inherited (passed-down) problems with platelets, white blood cells, or blood clotting. It may help improve understanding of the cause of these conditions and how they work in the body.
New York, New YorkAges Any age - NCT05656365Recruiting
Study of genes and immunity in PFAPA and other tonsil problems
This study looks at genetic markers and immune system patterns in people with PFAPA (periodic fevers with mouth sores and throat/neck gland symptoms) or similar tonsil problems. It may help researchers understand why these conditions happen and how they might be better diagnosed or treated.
Washington D.C., District of ColumbiaAges 1 month–99 years - 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 - NCT01238250Recruiting
Online autism genetics study for families with certain genetic changes
This study asks people with specific genetic changes linked to autism and their family members to complete online tasks and questionnaires. It may help researchers better understand how these genetic differences relate to autism traits.
Boston, MassachusettsAges Any age - NCT06641726Recruiting
Global database linking genetics and health records for mental illness
This trial is building a research database that combines genetic information and long-term health data to improve personalized treatment for serious mental illness. You may be eligible if you have been diagnosed or treated for depression, bipolar disorder, schizophrenia, or dementia.
Oxford, OxfordAges 18–110 - NCT01193088Recruiting
Study genetics to find who modifies Charcot-Marie-Tooth (CMT)
This study looks at DNA changes in families with Charcot-Marie-Tooth (CMT), especially a known gene duplication called PMP22. It aims to understand what other genetic factors may change how CMT shows up, which could help future diagnosis and care.
Los Angeles, CaliforniaAges Any age - NCT04463316Recruiting
Clinic study for people with rare genetic conditions
This study is for people who have a rare syndrome or rare congenital condition and are seen at a rare-disease clinic. It aims to better understand these conditions and how care works in a team setting, which may help guide future treatment decisions.
Rotterdam, South HollandAges 18 years+ - NCT07217522Recruiting
Genetics of pulmonary hypertension study
This study looks at the genes that may be linked to pulmonary hypertension. By providing a saliva sample and filling out a health survey from home, you can help researchers learn more about this condition.
Piscataway, New JerseyAges 18 years+ - NCT05765864Recruiting
Study of self-harm in at-risk teens
This study looks at self-harm and thoughts/behaviors related to safety in teenagers who are considered at higher risk. It may help researchers better understand what supports are needed for teens who self-harm without wanting to die.
LjubljanaAges 13–18
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Common questions
- Are there clinical trials for genetic disorder?
- Yes. Clin2 currently lists 93 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.