Clinical trials
Genetic Disease clinical trials
Below are recruiting genetic disease clinical trials, each written for real people, not researchers. We’re tracking 226 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT03458962Recruiting
Whole genome testing for children with an unknown genetic cause
This study uses whole genome sequencing (a complete DNA readout) to look for a genetic reason why a child’s medical symptoms are happening. It’s mainly for children who have had at least one test but still do not have a clear diagnosis, and it may help doctors find the right diagnosis or next steps.
Miami, FloridaAges Up to 21 years - NCT05364294Recruiting
Molecular testing for rare inflammatory (autoinflammatory) diseases
This study uses lab testing to better identify the cause of certain rare inflammatory conditions that happen without infection. Finding the cause may help doctors choose more targeted care for you or your child.
ParisAges 1 week–120 years - NCT06644742Recruiting
PKP2 heart condition natural history study
This study is for people with a specific genetic heart condition (PKP2-related arrhythmogenic cardiomyopathy) who already have an ICD. It does not test a new treatment but instead follows participants over time to learn more about the condition.
Boston, MassachusettsAges 12 years+ - NCT05477563RecruitingPhase 3
One-time gene therapy for severe sickle cell and transfusion anemia
This trial tests a single dose of gene therapy (CTX001) to improve outcomes for people with severe sickle cell disease or transfusion-dependent beta-thalassemia. It aims to see how well it works and whether it is safe, especially after a planned stem cell transplant process.
New York, New YorkAges 12–35 - NCT06048523Recruiting
Study of genetic brain diseases
This study follows people with a confirmed genetic nerve or brain disease over time, collecting blood and sometimes spinal fluid samples to learn more about the condition. It may help researchers understand how the disease progresses.
BordeauxAges 6 years+ - NCT03612310Recruiting
Study uses stem cells to model genetic diseases
This study looks at how to create laboratory models of genetic diseases using stem cells made from people’s cells. It may help researchers understand disease causes and how treatments could work, using genetic patients (and some non-patient controls).
Edinburgh, MidlothianAges 1–120 - NCT06504433Recruiting
Natural history of mitochondrial diseases
This study follows people with mitochondrial disease over time to learn more about how the condition progresses. It may help researchers find better ways to manage and treat mitochondrial diseases in the future.
Randwick, New South WalesAges 18 years+ - NCT06450964Enrolling by invitation
Studying Mitochondrial Disease to Improve Genetic Counseling
This study aims to learn more about mitochondrial DNA diseases by building a group of people with these conditions. The information gathered may help doctors give better genetic counseling to families.
Hefei, AnhuiAges Any age - NCT04208529Enrolling by invitationPhase 3
Long-term follow-up after receiving CTX001 infusion
This study follows people for a long time after they received CTX001 in an earlier (parent) study. It helps researchers learn about long-term safety and outcomes of the treatment.
Palo Alto, CaliforniaAges 2 years+ - NCT06337864Recruiting
Large neutral amino acids for adults with classical PKU
This study tests whether a specific mix of large neutral amino acids (LNAAs) can help adults with classical PKU by lowering phenylalanine levels in the brain. It includes an MRI and PET scan to see how the treatment affects brain activity.
CopenhagenAges 18–50 - NCT04760522Recruiting
Genetic testing plan for patients with unclear disease cause
This study helps decide treatment planning based on genetic testing for people whose disease cause is unclear but may be genetic. It’s meant to support a “genomic health” approach, where results guide next steps in care.
TübingenAges Any age - NCT03322306Enrolling by invitation
Genetic testing study for inherited neurological conditions
This trial looks for genetic causes of inherited (in family) neurological diseases by using genetic screening. If you might have an inherited neurological condition, this study may help explain why symptoms happen and guide future care.
Hong Kong, ShatinAges 18–80 - NCT04703179Enrolling by invitation
Rare disease and undiagnosed case research blood and tissue biobank
This study collects and stores samples and related medical information for people with rare diseases or suspected genetic conditions. It may help researchers better understand these conditions and develop future testing and treatments.
Scottsdale, ArizonaAges Any age - NCT05759143Recruiting
Improve support after genetic cancer risk testing for young adults
This study tests better ways to manage information and support for people ages 18–39 after they’ve had genetic testing for cancer risk. It focuses on those who received results showing a possible cancer-risk gene change, and it includes both patients and the clinicians who care for them.
Boston, MassachusettsAges 18–39 - NCT00064870Recruiting
Alzheimer's Disease Family Genetics Study
This study collects biological samples (blood or cells) from families where two or more members have been diagnosed with Alzheimer's disease or dementia. Researchers use these samples to identify genetic factors that may cause or increase risk for these conditions.
Nationwide, IndianaAges 18 years+ - NCT06850311RecruitingPhase 2/Phase 3
Herbal ointment for mild to severe eczema
This trial tests whether a special herbal ointment can help treat atopic dermatitis (eczema). It is for adults with mild, moderate, or severe eczema covering less than 10% of their body surface. The ointment is applied directly to the skin, and participants will also use a gentle, fragrance-free moisturizer.
New Taipei CityAges 18–65 - NCT02266615Recruiting
Biobank for genetic testing in new clinic patients
This trial collects body samples from new patients so doctors can run genetic tests and better understand inherited conditions. You might join if you are visiting the clinical genetics clinic for the first time and your sample is needed for genetic diagnostics.
Maastricht, LimburgAges Any age - 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 - NCT02450851Recruiting
Find answers for undiagnosed medical conditions using genetic testing
This study helps look for causes of health problems when no one has been able to give a diagnosis. It tests and shares medical and genetic information (with privacy protections) so researchers can better match findings to possible causes.
Birmingham, AlabamaAges 1 month–100 years - NCT07469657Recruiting
Cost-effectiveness of a non-invasive prenatal test for genetic disorders
This study is testing a non-invasive prenatal blood test (NIPD) that can check for certain serious genetic disorders in your baby, instead of using more invasive methods like amniocentesis. If you are at risk of passing on a severe genetic condition, this test may help you get answers safely.
Paris, Île-de-France RegionAges 18 years+ - NCT06762002Recruiting
Immune system study for people with certain immune weaknesses
This study is for adults whose immune system has trouble fighting viruses due to specific antibodies or a genetic condition. Researchers want to follow these people over time to better understand the condition and improve care.
LilleAges 18 years+ - NCT06072079Enrolling by invitation
Structural chromosome changes and brain disorders
This trial is for people who have or might have a rare disease or a change in their chromosomes. The study aims to learn more about how these changes relate to brain disorders.
StockholmAges Any age - NCT04848090Enrolling by invitation
Genetic testing for newborns in the hospital intensive care unit
This study uses whole-genome sequencing (a DNA test that looks across the genome) for newborns in the intensive care unit when doctors suspect a genetic condition. It aims to help identify possible genetic causes of illness and improve understanding for families and clinicians.
Pittsburgh, PennsylvaniaAges Up to 1 year - NCT03385876Enrolling by invitation
Rapid whole genome sequencing for children with suspected genetic illness
This study quickly reads a child’s DNA using whole genome sequencing to look for genetic causes of symptoms. It may help families and doctors better understand an underlying genetic condition and guide medical care.
San Diego, CaliforniaAges Any age
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Common questions
- Are there clinical trials for genetic disease?
- Yes. Clin2 currently lists 226 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.