Condition

Genetic Disease clinical trials and research

• 39Clinical trials
• 14NIH research projects
• 21Countries

Newest Genetic Disease clinical trials

All recruiting trials (39)

• Newborn whole-genome sequencing and genetic disease risk in pregnancy and early life

  This project will collect small biological samples from pregnant families and newborns to try whole-genome sequencing and other multi-omics tests to find genetic disease risks.

  Recruiting Women's Hospital School Of Medicine Zhejiang University · Hangzhou, Zhejiang · NCT07365254

• Multicenter study of SHANK3-related Phelan-McDermid syndrome genetic modifiers

  Researchers are testing how other genes may modify the PMS clinical picture in people with SHANK3-related deletions or variants.

  Recruiting Assistance Publique - Hôpitaux de Paris · Paris, Ap-hp / DRCI · NCT07119606

• Prenatal cfDNA Screening in Pregnancies with Diverse Genetic Risk Profiles

  This study tests two cfDNA approaches from a single maternal blood sample to see if they can detect a wide range of fetal genetic conditions in pregnant people with various risk factors.

  Recruiting at 2 sites Women's Hospital School Of Medicine Zhejiang University · Hangzhou, Zhejiang and 1 other locations · NCT07106853

• Natural history of type I interferonopathies in a European patient group

  This project will follow people with genetically confirmed type I interferonopathies across European centers to see how the disease develops and which clinical and blood markers track disease activity.

  Recruiting at 18 sites Imagine Institute · Innsbruck and 31 other locations · NCT07040774

• Speech-generating device to help communication in childhood dementia

  This project will test whether giving children with childhood dementia a speech-generating iPad app helps them communicate better than their usual care.

  Recruiting Murdoch Childrens Research Institute · Melbourne, Victoria · NCT07039084

• Using AI to enhance cardiology patient care

  This study is testing if using AI tools can help cardiologists make better decisions when treating patients with heart conditions compared to traditional methods.

  Recruiting Stanford University · Palo Alto, California · NCT06935253

• Genomic profiling for patients with rare and genetic diseases

  This study is trying to see if using advanced genetic testing can help doctors better understand and treat rare diseases for over 2 million patients in Italy.

  Recruiting Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Rome, Lazio · NCT06926127

• Gene testing for diagnosing and treating heart disease

  This study is trying to see if gene testing can help doctors better diagnose and treat heart conditions related to arrhythmias in patients at the Cardiogenetic Center in Italy.

  Recruiting University Hospital of Ferrara · Ferrara · NCT06898307

• Exploring genetic factors in childhood asthma

  This study is trying to see if certain genetic factors are linked to asthma in children to help find better treatments and prevention methods.

  Recruiting Guangzhou Institute of Respiratory Disease · Guangzhou, Guangdong · NCT06840717

• Enhancing collaboration for genetic disease diagnosis in critically ill infants

  This study is testing whether a new genetic testing method can help doctors quickly diagnose genetic diseases in critically ill infants to provide them with the right treatment sooner.

  Recruiting National Taiwan University Hospital · Taipei · NCT06821386

• Precision diagnosis and therapy for rare eye and neuromuscular diseases

  This study is testing new ways to find the genetic causes of rare eye and muscle diseases to help create more personalized treatments for patients.

  Recruiting IRCCS Azienda Ospedaliero-Universitaria di Bologna · Bologna · NCT06775561

• A platform to support pediatric neurogenetic diagnosis

  This study is testing a new tool to help doctors better diagnose genetic neurological diseases in children and see if it improves the quality of their referrals and evaluations.

  Recruiting Universidad Nacional Andres Bello · Valparaíso, Valparaiso · NCT06725901

• Natural history study of STXBP1 and SYNGAP1 related disorders

  This study is trying to learn more about STXBP1 and SYNGAP1 related disorders by collecting information from participants over five years to help improve future treatments.

  Recruiting at 5 sites Children's Hospital of Philadelphia · Palo Alto, California and 4 other locations · NCT06555965

• Observing the natural history of mitochondrial diseases

  This study is tracking 400 people with mitochondrial diseases and 100 healthy individuals over 10 years to see how the disease affects them and to help improve future diagnosis and treatment.

  Recruiting Neuroscience Research Australia · Randwick, New South Wales · NCT06504433

• Investigating thalidomide's effects on beta thalassemia

  This study is testing whether low doses of thalidomide can help young people with beta thalassemia manage their condition better and reduce the need for blood transfusions.

  Recruiting Phase 2 National Institute of Blood and Marrow Transplant (NIBMT), Pakistan · Karachi, Sindh · NCT06490627

• Collection of biological samples for rare pediatric autoimmune and autoinflammatory diseases

  This study is collecting blood and tissue samples from kids with rare autoimmune diseases to help researchers learn more about these conditions and improve diagnosis.

  Recruiting at 4 sites Hospices Civils de Lyon · Bron, Bron and 12 other locations · NCT06435468

• Newborn screening for genetic diseases using genome sequencing

  This study is testing a new way to screen newborns for genetic diseases using advanced DNA testing to see if it can find more conditions than the usual methods.

  Recruiting Rady Pediatric Genomics & Systems Medicine Institute · San Diego, California · NCT06306521

• Comparing speech perception in cochlear implant patients and those receiving gene therapy for hearing loss

  This study is trying to see how well people with cochlear implants hear and understand speech compared to those who have received gene therapy for hearing loss.

  Recruiting Eye & ENT Hospital of Fudan University · Beijing, Beijing Municipality and 5 other locations · NCT06237790

• Genomic testing for newborns in intensive care

  This study is testing a quick genetic test for sick newborns in intensive care to see if it can help find hidden genetic diseases that regular treatments don’t explain.

  Recruiting Liggins Institute · Auckland · NCT06081075

• Cohort study on neurogenetic diseases

  This study is trying to help people with rare inherited brain disorders by collecting health information and samples over three years to improve research and future treatments.

  Recruiting University Hospital, Bordeaux · Bordeaux · NCT06048523

• Comparing two methods for sperm preparation in IVF

  This study is testing which of two sperm preparation methods helps improve the chances of having healthy embryos for couples undergoing IVF.

  Recruiting The University of Hong Kong · Hong Kong, Hong Kong · NCT06023472

• Observing the natural history of patients with HPDL mutations

  This study is trying to learn more about people with HPDL mutations and their related mitochondrial diseases by collecting health information and blood samples to see how these conditions change over time.

  Recruiting University of California, San Diego · San Diego, California · NCT05848271

• Database for children with severe obesity

  This study is collecting information from young children with severe obesity to better understand how it develops and find out who might need extra help.

  Recruiting Baylor College of Medicine · Houston, Texas · NCT05747976

• Understanding inherited risk factors for lung cancer

  This study is trying to understand how genetic factors affect the risk of lung cancer in people with little tobacco exposure, especially those with family histories of the disease.

  Recruiting Dana-Farber Cancer Institute · Boston, Massachusetts and 1 other locations · NCT05587439

• Understanding Chopra-Amiel-Gordon Syndrome and its effects

  This study is creating a registry to learn more about Chopra-Amiel-Gordon Syndrome by gathering information on symptoms, brain scans, and learning challenges from people with the condition.

  Recruiting Boston Children's Hospital · Boston, Massachusetts · NCT05528744

• Identifying genetic causes of rare diseases

  This study is trying to find out if certain genetic changes are linked to rare diseases by looking at samples from patients whose conditions are not well understood.

  Recruiting University Hospital, Angers · Angers · NCT05499091

• Registry for individuals with Rett syndrome

  This study is gathering information from people with Rett syndrome and their caregivers to help improve care and develop new treatments for the condition.

  Recruiting at 19 sites International Rett Syndrome Foundation · Birmingham, Alabama and 18 other locations · NCT05432349

• Using advanced imaging to study retinal disorders

  This study is testing a new imaging technology to see how it can help understand and track changes in the eyes of people with inherited and acquired retinal disorders.

  Recruiting The Hospital for Sick Children · Toronto, Ontario · NCT05386134

• Identifying genes in systemic autoinflammatory diseases

  This study is trying to find new genes linked to rare autoinflammatory diseases to help doctors diagnose and treat patients better.

  Recruiting Institut National de la Santé Et de la Recherche Médicale, France · Paris · NCT05364294

• Observational study on young adult cancer survivors

  This study looks at young adults who have survived cancer to see how their long-term health and quality of life are affected.

  Recruiting The Netherlands Cancer Institute · Amsterdam, North Holland · NCT04682470

• Program for discovering undiagnosed genetic diseases

  This study is trying to find new genetic causes for rare diseases by testing the DNA of 500 people who haven't been diagnosed yet.

  Recruiting University of Wisconsin, Madison · Madison, Wisconsin · NCT04586075

• Long-term follow-up for patients using preimplantation genetic testing

  This study is trying to learn about the long-term experiences and outcomes of people who have used preimplantation genetic testing during IVF to help improve care in reproductive genetics.

  Recruiting Genomic Prediction Inc. · North Brunswick, New Jersey · NCT04477863

• Observing the natural history of a rare brain disorder called LBSL

  This study looks at how a rare brain disorder called LBSL affects movement and thinking in patients to better understand their challenges and improve their quality of life.

  Recruiting Hugo W. Moser Research Institute at Kennedy Krieger, Inc. · Baltimore, Maryland · NCT03624374

• Protocols to model genetic diseases with induced pluripotent stem cells

  This project will test methods to create and use induced pluripotent stem cells from people with genetic diseases and from healthy controls to build 'disease in a dish' models.

  Recruiting Censo Biotechnologies Ltd · Edinburgh, Midlothian · NCT03612310

• Using rifampin to treat hypercalcemia in patients with CYP24A1 mutations

  This study is testing if rifampin can help people with CYP24A1 mutations lower their high calcium levels and improve their health.

  Recruiting Phase 2 Children's Hospital of Philadelphia · Philadelphia, Pennsylvania · NCT03301038

• Biobank for stroke and related genetic research

  This study is collecting blood and tissue samples from patients to help researchers learn more about the genetic causes of stroke and related diseases.

  Recruiting Chinese University of Hong Kong · Hong Kong · NCT03291392

• Using genomic sequencing to diagnose birth defects in newborns

  This study is testing if a new DNA testing method can help doctors diagnose birth defects and genetic diseases in newborns faster and more accurately than the usual method.

  Recruiting Children's Hospital of Fudan University · Shanghai, Shanghai Municipality · NCT02551081

• Evaluation of individuals with undiagnosed genetic disorders

  This study is trying to help people with undiagnosed genetic disorders by using expert evaluations and genetic testing to find answers about their conditions.

  Recruiting at 24 sites National Institutes of Health Clinical Center (CC) · Birmingham, Alabama and 32 other locations · NCT02450851

• Collection of genetic material and data for future research

  This study is collecting genetic samples and health information from new patients to help researchers learn more about genetic diseases and find new treatments.

  Recruiting Maastricht University Medical Center · Maastricht, Limburg · NCT02266615

NIH-funded research (14)

Early-stage science funded by the US National Institutes of Health. Most of these projects don't enroll patients, but they show what is being worked on.

• Evidence-based diagnostic criteria for pediatric genetic diseases

  A clinician-scientist is testing clearer, data-driven criteria to diagnose rare genetic diseases in children, starting with Basal Cell Nevus Syndrome, to help families get faster, more accurate genetic testing.

  NIH research Children's Hosp of Philadelphia · Philadelphia, United States · NIH-11327359

• Mapping protein changes that cause cystic fibrosis

  This project uses a new computer method to map how genetic changes in the CFTR protein affect its folding and trafficking, with the goal of guiding treatments for people with cystic fibrosis.

  NIH research Scripps Research Institute, the · La Jolla, United States · NIH-11318888

• National primate embryo resource for human genetic disease models

  They are building a national collection of primate embryos that carry human-like genetic mutations to help speed development of new treatments for inherited diseases.

  NIH research Oregon Health & Science University · Portland, United States · NIH-11253307

• Creating better animal models for Alpha-1 antitrypsin deficiency

  This work aims to develop improved animal models to help us understand and find new treatments for Alpha-1 antitrypsin deficiency.

  NIH research Univ of Massachusetts Med Sch Worcester · Worcester, United States · NIH-11146477

• Improving diagnosis of rare genetic diseases in children

  This study is working to improve how doctors diagnose over 7,000 rare genetic diseases in children by creating better guidelines that combine medical history, physical exams, and lab results, so kids can get the right treatment more easily.

  NIH research Children's Hosp of Philadelphia · Philadelphia, United States · NIH-11094052

• Investigating how RNA structure changes contribute to genetic diseases

  This study is looking at how the shape of RNA affects how genes work after they are copied, which could help us understand more about certain diseases and genetic disorders.

  NIH research Univ of North Carolina Chapel Hill · Chapel Hill, United States · NIH-11088257

• Improving rat genome assembly to better understand complex diseases

  This study is working to make the genetic information about rats even better, which will help scientists understand diseases like brain disorders and addiction, ultimately leading to better treatments for patients.

  NIH research University of Texas Hlth Sci Ctr Houston · Houston, United States · NIH-11080198

• Understanding how genetic changes affect protein folding in diseases like cystic fibrosis

  This study is looking at how changes in our genes affect the way proteins, like the one involved in cystic fibrosis, are shaped and work, with the hope of finding better treatments for people with this condition.

  NIH research Scripps Research Institute, the · La Jolla, United States · NIH-11074144

• Understanding how adults with childhood genetic diseases plan for their futures

  This study is looking at how adults who were diagnosed with genetic diseases as kids are managing their lives and health now that treatments are improving, and it aims to understand their experiences and needs as they grow older.

  NIH research University of Pennsylvania · Philadelphia, United States · NIH-11054943

• Correcting genetic diseases using precision genome editing

  This study is exploring new ways to fix genetic problems that cause heart issues like dilated cardiomyopathy, using special techniques that could allow for a one-time injection to make lasting changes, and it's currently being tested in mice to see how well it works.

  NIH research Johns Hopkins University · Baltimore, United States · NIH-11052618

• Analyzing how genetic variations affect protein function in diseases

  This study is looking at how changes in our genes can affect proteins in the body, especially for people with rare neurodegenerative diseases, to help us understand these conditions better and find new treatments.

  NIH research Indiana University Indianapolis · Indianapolis, United States · NIH-11010000

• Creating a resource of non-human primate models for human genetic diseases

  This study is working to create a special resource of non-human primates that can help scientists test new treatments for genetic diseases that affect humans, with the hope of finding better options for patients facing tough health challenges.

  NIH research Oregon Health & Science University · Portland, United States · NIH-11003343

• Creating animal models to test therapies for Alpha-1 antitrypsin deficiency

  This study is creating special mice and ferrets to help test new treatments for Alpha-1 antitrypsin deficiency, which could lead to better options for people living with this condition.

  NIH research Univ of Massachusetts Med Sch Worcester · Worcester, United States · NIH-10914220

• Understanding how genetic disease risks change over time and among different populations

  This study is looking at how the risks of genetic diseases have changed over time by examining DNA from both ancient and modern people, especially from groups that haven't been studied much before, to help create better health tools for everyone, no matter their background.

  NIH research Georgia Institute of Technology · Atlanta, United States · NIH-10673157

Related topics

Quick answers

How many Genetic Disease clinical trials are recruiting right now?

39, as of November 12, 2026. We update this list each time we refresh our data from ClinicalTrials.gov.

Where are these trials running?

In 21 countries. The most sites are in United States (13 trials), China (6 trials), France (6 trials), Italy (4 trials), United Kingdom (2 trials). Each study page lists its sites and which ones are recruiting.

What phases are they in?

Phase 2: 2. Trials with no phase listed are usually device, behavioural or observational studies.

How do I join one?

Open a study, check the "Is this trial a fit for you?" section, then contact the study team listed on the page. They will ask a few screening questions. Asking is free and does not commit you to anything. Talk it over with your doctor first.

Find the studies that fit you

A list is a starting point. Tell us your situation in your own words and we'll rank the studies that match and explain why. It's free and needs no account.

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