Clinical trials
Inherited Disease clinical trials
Below are recruiting inherited disease clinical trials, each written for real people, not researchers. We’re tracking 44 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT04880356Recruiting
Study of very rare inherited brain diseases over time
This study follows adults over time who have a very rare inherited brain disease, or whose illness seems like it may run in families. The goal is to better understand these conditions and how they progress.
Milan, MilanoAges 18 years+ - NCT06491615Recruiting
eyeGENE study: genetics of rare eye diseases
This study collects DNA samples and medical information from people with rare inherited eye diseases and their close relatives. The goal is to learn more about the genetic causes of these conditions and improve diagnosis and care.
Bethesda, MarylandAges 1 day–120 years - NCT02771236Recruiting
Study of inherited eye conditions in families
This study looks at families who have inherited (passed down) eye conditions, using eye exams and blood tests. It may help researchers understand what causes these conditions and find better ways to diagnose them.
La Jolla, CaliforniaAges 4–120 - NCT06651736Recruiting
Low vision rehab for people with inherited eye disease and distress
This study tests a 10-week low vision rehabilitation program for people with inherited retinal diseases who also feel emotionally distressed. The goal is to see if the program improves daily function and emotional well-being.
Ann Arbor, MichiganAges 18 years+ - NCT06471842Recruiting
Eating issues in kids with metabolic diseases on special diets
This trial studies eating disorders in young children with certain inherited metabolic diseases that require a special diet. It aims to understand how often these eating problems happen and what they look like.
ParisAges 1–6 - 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 - NCT01900132Recruiting
Measures nerve and muscle signals in healthy people and patients
This study uses a painless electrical method to record how muscles and nerves work over time. It aims to better understand normal patterns (healthy volunteers) and to learn how these signals change in people with neuromuscular or movement-related conditions.
Bethesda, MarylandAges 2–110 - NCT06561503Recruiting
Quality of life in inherited metabolic diseases
This study looks at how certain rare metabolic disorders affect quality of life. Researchers at Sohag University Hospital want to understand the daily challenges patients face, so they can improve care and support.
SohagAges 1 day–18 years - NCT03568630Recruiting
Blood tests to study early pancreatic cancer risk
This study looks at blood “markers” to find early signs or higher risk for pancreatic cancer. You may join if you have certain risk factors (like new diabetes, pancreatic cysts/pancreatitis, or a strong family history) and can come to Omaha for blood draws twice a year.
Omaha, NebraskaAges 19 years+ - NCT07656753RecruitingEarly Phase 1
Gene therapy trial for RLBP1-related retinal dystrophy
This trial tests an injection (PUMCH-E111) for people with a specific genetic form of inherited retinal dystrophy caused by RLBP1 mutations. It aims to see if the treatment is safe and can help preserve vision.
Beijing, Beijing MunicipalityAges 18–55 - NCT05158738Recruiting
Study of inherited heart conditions in children
This trial studies children with inherited (genetic) heart conditions that started before age 16. It may help improve how doctors identify the genetic cause and understand which families are affected.
LondonAges Any age - NCT03854318Recruiting
Study of families with suspected RUNX1 gene changes
This study follows people who have a known or suspected RUNX1 gene variant linked to FPDMM-like features. It may help improve understanding of the gene, and participants may contribute samples that researchers use for genetic testing and research.
Bethesda, MarylandAges 1 day–100 years - NCT06380075Recruiting
Comparing two imaging systems for inherited retinal disease
This trial compares two different imaging systems (Clarus and Optos) to see how well they can capture images of the retina in people with inherited retinal diseases. The goal is to find which system works better for diagnosing and tracking these conditions.
Madison, WisconsinAges 18 years+ - NCT06451757RecruitingPhase 3
A trial of sonlicromanol for mitochondrial disease
This trial tests a new medicine, sonlicromanol, for people with a specific type of mitochondrial disease (caused by the m.3243A>G mutation) who also have chronic fatigue and muscle weakness. The goal is to see if it helps improve symptoms and daily function.
Boston, MassachusettsAges 18 years+ - NCT06789445RecruitingPhase 1/Phase 2
Cell therapy for inherited retinal disease (CLARICO)
This study tests a new cell therapy (OpCT-001) for adults with inherited retinal diseases that affect the light-sensing cells. It aims to see if the treatment is safe and possibly helps improve vision.
Los Angeles, CaliforniaAges 18 years+ - NCT06999954Recruiting
Global survey for Shwachman-Diamond syndrome and related conditions
This trial is a global survey and registry for people with Shwachman-Diamond Syndrome and related inherited blood disorders. It aims to connect patients, families, and researchers to better understand these conditions and improve care.
Woburn, MassachusettsAges Any age - NCT02471287Recruiting
Genetics study for inherited eye conditions
This study looks at genes in people with inherited eye conditions and in close family members who may or may not have the condition. It helps researchers understand what causes these eye diseases and how they might be better studied in the future.
Bethesda, MarylandAges 1–120 - NCT05007990Recruiting
Interview study of caregiving networks over a person’s life
This study uses interviews and questionnaires to better understand who makes up a caregiver’s support network when caring for someone with a long-term health condition. Your answers may help researchers understand how caregiving changes over time and across different health situations.
Bethesda, MarylandAges 18–100 - NCT02435940Recruiting
Registry for inherited eye vision conditions
This study is a registry, meaning it collects information about people with inherited retinal (retina) diseases. It may help researchers learn how these conditions progress and connect you with future studies or treatments.
Columbia, MarylandAges Any age - NCT05196789Recruiting
Genetic testing to diagnose inherited bone marrow failure
This study looks at patients with suspected inherited (families-linked) bone marrow failure to better understand the cause using genetic testing. It may help confirm a diagnosis and refine how different inherited conditions are classified.
Melbourne, VictoriaAges 3 months+ - NCT07502664Recruiting
A study on vision and navigation in inherited retinal disease
This study is looking at how people with inherited retinal disease that affects peripheral vision see and move around. It will test a new way to measure vision and navigation to see if it can help doctors understand how the disease affects daily life.
Irvine, CaliforniaAges 18 years+ - NCT02254863RecruitingPhase 1
Stem cell transplant into the spinal fluid for rare brain diseases
This Phase 1 trial tests a transplant using special donated stem-cell–like cells placed into the spinal fluid to treat certain inherited brain diseases. It is mainly designed to check safety, and it may offer benefit by targeting brain and nerve damage.
Durham, North CarolinaAges 1 week–22 years - NCT04969926Recruiting
Study of parathyroid problems in children and adults
This is an observational study that follows people who have or may develop parathyroid-related conditions. The goal is to better understand how these problems change over time and what patterns show up, which can help improve future care.
Bethesda, MarylandAges 6 months–100 years - NCT06431425Recruiting
Online genetic counseling clinic for inherited heart conditions
This trial tests an online genetic counseling clinic for people with certain inherited heart muscle diseases and their family members. It aims to provide presymptomatic counseling (before symptoms appear) through video calls, making it easier to access care from home.
Utrecht, UtrechtAges 18–90
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Common questions
- Are there clinical trials for inherited disease?
- Yes. Clin2 currently lists 44 recruiting inherited 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 inherited 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 inherited 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.