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genetic disease

Total Trials
9
Recruiting Now
9
Trial Phases
Various

ClinicalMetric tracks all active clinical trials for genetic disease sourced from ClinicalTrials.gov. Research in this area spans early-phase safety investigations through large Phase 3 confirmatory trials, conducted by NIH-funded academic centers, independent investigators, and pharmaceutical sponsors worldwide. Each listing is updated daily as new studies open enrollment and existing ones reach capacity or complete follow-up.

Trial listings include the NCT identifier, current recruitment status, phase classification, primary and secondary endpoints, estimated enrollment size, participating countries, and direct links to the full protocol on ClinicalTrials.gov. Eligibility criteria — including age range, disease stage, and prior treatment requirements — are documented for every study to help patients and clinicians assess suitability before contacting a trial site.

Frequently Asked Questions — genetic disease Clinical Trials

How many clinical trials are currently recruiting for genetic disease?
ClinicalMetric currently tracks 9 actively recruiting clinical trials for genetic disease, sourced in real time from ClinicalTrials.gov. The total number of registered studies—including those not yet enrolling or in active follow-up—is 9. Trial availability changes daily as new studies open enrollment and existing ones reach capacity.
What trial phases are available for genetic disease?
genetic disease research spans multiple clinical trial phases. Phase 1 studies evaluate safety and dosing in small groups, Phase 2 studies assess preliminary efficacy in 100–300 participants, and Phase 3 trials compare the new treatment against the standard of care in 300–3,000+ patients. Phase 4 post-approval studies monitor long-term outcomes in real-world populations.
How do I find out if I qualify for a genetic disease clinical trial?
Eligibility criteria for genetic disease trials vary by study and typically specify age range, disease stage or severity, prior treatment history, and specific diagnostic or laboratory parameters. Each listing on ClinicalMetric links to the full protocol on ClinicalTrials.gov, where inclusion and exclusion criteria are documented. Contact the sponsoring site's research coordinator directly to confirm your eligibility—your treating physician or specialist can also help identify the most appropriate trial based on your medical history and current treatment status.
Top Sponsors
Hugo W. Moser Research Institute at Kennedy Krieger, Inc. 1 trial
University of California, San Diego 1 trial
Children's Hospital of Fudan University 1 trial
Maastricht University Medical Center 1 trial
Universidad Nacional Andres Bello 1 trial

Recruiting Clinical Trials

NCT03624374
Recruiting
Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
Enrollment
100 pts
Location
United States
Sponsor
Hugo W. Moser Research Institu...
View Trial →
NCT05848271
Recruiting
Natural History Study of Patients with HPDL Mutations
Enrollment
50 pts
Location
United States
Sponsor
University of California, San ...
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NCT02551081
Recruiting
Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units
Enrollment
2,000 pts
Location
China
Sponsor
Children's Hospital of Fudan U...
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NCT02266615
Recruiting
Biobank Clinical Genetics Maastricht (KG01)
Enrollment
3,600 pts
Location
Netherlands
Sponsor
Maastricht University Medical ...
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NCT06725901
Recruiting
Pediatric Neurogenetic Diagnosis Support Platform
Enrollment
9 pts
Location
Chile
Sponsor
Universidad Nacional Andres Be...
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NCT06048523
Recruiting
Prospective Cohort Study of Neurogenetic Diseases
Enrollment
150 pts
Location
France
Sponsor
University Hospital, Bordeaux
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NCT06926127
Recruiting
Genomic Profiling of Genetic and Rare Diseases
Enrollment
1,500 pts
Location
Italy
Sponsor
Fondazione Policlinico Univers...
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NCT06775561
Recruiting
Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes
Enrollment
100 pts
Location
Italy
Sponsor
IRCCS Azienda Ospedaliero-Univ...
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NCT04682470
Recruiting
The Prospective Observational COMPRAYA Cohort Study
Enrollment
4,000 pts
Location
Netherlands
Sponsor
The Netherlands Cancer Institu...
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Related Conditions

white matter disease (2) leukoencephalopathies (1) lbsl (1) leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (1) ataxia cerebellar (1) mitochondrial encephalomyopathies (1) hereditary spastic paraplegia (1) spastic paraplegia (1) neonatal encephalopathy (1) mutation (1) multiple malformation (1) congenital malformation (1)
ClinicalMetric — Independent clinical trial intelligence platform. Not affiliated with NIH, ClinicalTrials.gov, the U.S. FDA, or any pharmaceutical company, hospital, or clinical research organization. Trial data is sourced from ClinicalTrials.gov for informational purposes only and does not constitute medical advice. Do not make any treatment, enrollment, or health decisions based solely on information found here — always consult a qualified healthcare professional. Full Disclaimer  ·  Last Reviewed: September 2026  ·  Data Methodology