Clinical trials
Genetic Syndrome clinical trials
Below are recruiting genetic syndrome clinical trials, each written for real people, not researchers. We’re tracking 90 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT01601171Recruiting
Genetic study of reproductive problems and cleft lip or palate
This study looks at genetic (inherited) causes of certain hormone and reproductive conditions, including Kallmann syndrome and cleft lip/palate. You might be asked for medical and family history and possibly a DNA sample, helping researchers find what drives these conditions.
Lausanne, Canton of VaudAges Any age - NCT06552052Recruiting
Natural history study of genetic blood vessel disease
This study tracks the health of people with a confirmed ACTA2 gene change over time to better understand the disease. It may help researchers learn how to improve care for this condition.
Boston, MassachusettsAges 4 weeks+ - NCT06886425Recruiting
Study of how azacytidine works in blood cancers
This study looks at how certain enzymes in your body affect the way a drug called azacytidine works against blood cancers like acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). The goal is to better understand who might benefit most from this treatment.
MarseilleAges 18 years+ - NCT06647641Recruiting
Genetics study for PSP, CBS, MSA, and related conditions
This study looks at genetic factors in people with PSP, CBS, MSA, or similar brain conditions, and also in their family members. It involves genetic testing to learn more about these diseases and may help find new treatments.
Boston, MassachusettsAges 35 years+ - NCT02735824Recruiting
Genetic study of immune problems in children
This study looks for new genetic causes of immune system conditions that can run in families. If you join, researchers will collect health information (and usually samples) from children with immune concerns and from close relatives for comparison.
Zurich, Canton of ZurichAges Any age - NCT00499317Recruiting
Genetic study of chronic pelvic pain and bladder symptoms
This study looks for genetic (inherited) factors behind chronic pelvic pain and related urinary and sexual symptoms. You may be able to help researchers by providing a few samples and answering short questions, which could improve understanding of these conditions.
Boston, MassachusettsAges Any age - NCT00006150Recruiting
Understanding Hyper-IgE Syndrome: Natural History and Genetics
This study follows people with or suspected Hyper-IgE syndrome (a rare immune disorder causing repeated infections and skin problems) to understand how the condition develops, how best to manage it, and which genes are involved. Researchers also welcome healthy relatives of patients to help identify genetic patterns.
Bethesda, MarylandAges 1 month–120 years - 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 - NCT06244433Recruiting
Genetic testing for sudden infant death
This study looks for gene changes that might be linked to sudden unexpected infant death. It compares the DNA of babies who died suddenly with DNA from their parents, to find possible inherited causes.
Nantes, Loire-AtlantiqueAges Any age - NCT05562778Recruiting
Chatbot helps you complete hereditary cancer genetic risk testing
This study tests whether a chatbot can help people complete hereditary cancer genetic risk assessment before a gynecology new-patient visit. It may help you understand and organize next steps for genetic testing, if needed.
Brooklyn, New YorkAges 18 years+ - NCT00033137Recruiting
Genetic study of Birt-Hogg-Dubé syndrome and kidney cancer risk
This research study examines the genes behind Birt-Hogg-Dubé (BHD) syndrome, a condition that increases kidney cancer risk. Researchers want to understand who inherits this condition and how to better identify and help people at risk.
Bethesda, MarylandAges 2 years+ - NCT07106359Recruiting
Learning about Lynch syndrome genetic services for families
This study tests a program to help families talk about genetic services for Lynch syndrome. It aims to support people who may be at risk but haven't yet had genetic counseling or testing.
Birmingham, AlabamaAges 18 years+ - NCT02967822Recruiting
Study of genes in MRKH syndrome and related families
This study looks at DNA (your genes) to better understand Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. It may help researchers learn more about the condition, and it can include both people with MRKH and healthy family relatives.
ParisAges Any age - NCT00556530Recruiting
Study genes and severity in 22q11.2 deletion
This study looks at how genetic differences affect how severe 22q11.2 deletion syndrome is for different people. It may help researchers understand what drives symptom severity and guide future care.
New York, New YorkAges Any age - NCT00389142Recruiting
Find genes linked to bladder pain and urinary symptoms
This study looks for genetic (inherited) causes of bladder pain syndrome (IC/BPS), using information from people who have typical urinary symptoms. It may help doctors understand why IC/BPS happens, which could guide better future care.
Boston, MassachusettsAges 1 year+ - NCT01084967Recruiting
Study genes behind obesity in young people from East China
This study looks at how genes may contribute to obesity in young people living in East China. If you meet the weight and background criteria and can consent, you may be able to help researchers learn more and improve care for obesity.
Shanghai, Shanghai MunicipalityAges 14–30 - 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 - NCT06927947Recruiting
Helping families learn about inherited cancer risk
This study tests different ways to help family members of people with inherited cancer syndromes get genetic testing. It aims to improve cancer prevention and early detection.
Ann Arbor, MichiganAges 18 years+ - NCT05918861RecruitingPhase 3
Tested heart-risk drug for people with recent heart-attack genetics
This trial studies whether dalcetrapib can lower future heart and blood-vessel risk in people who recently had an ACS (acute coronary syndrome, often a heart attack or unstable chest pain) and have a specific genetic marker. It may help people like you by targeting a risk pathway related to that genetic background.
Alexander City, AlabamaAges 45 years+ - NCT02432079Recruiting
Study genetics in heterotaxy and certain heart defects
This study looks at the genes behind heterotaxy and related congenital (from-birth) heart defects. You may be able to join if you have this condition—or if you are a close family member of someone who does.
Indianapolis, IndianaAges Any age - NCT04888936Recruiting
Study families with genetic RAS syndromes, including adults and children
This study looks at people with certain inherited genetic conditions called RASopathies and their family members. It helps researchers understand these conditions and how genetic changes run in families, which may improve future care.
Bethesda, MarylandAges 1 month–99 years - NCT03160274Recruiting
Genetic testing for certain adrenal and nerve tumors
This study looks at genetic (DNA) changes in people with pheochromocytoma or paraganglioma and related conditions. It may help clarify why these conditions happen and how they run in families.
San Antonio, TexasAges Any age - NCT06507007Recruiting
Inner ear function in Turner syndrome
This study looks at why some people with Turner syndrome have inner ear problems. It uses MRI and CBCT scans to understand the genetic and epigenetic causes.
HerningAges 18–60
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Common questions
- Are there clinical trials for genetic syndrome?
- Yes. Clin2 currently lists 90 recruiting genetic syndrome 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 syndrome 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 syndrome 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.