Medical Information Only. Consult your healthcare provider before considering clinical trial enrollment.
Genetic Disease: full-pipeline trial registry
15 of 31 indexed Genetic Disease trials are currently recruiting.
Corpus placement: #495 of 28,707 conditions by registered trial count.
31 US clinical trials · 15 currently recruiting · #495 of 28,707 conditions by registered trial count
Genetic Disease: 31 US clinical trials tracked, 15 recruiting.
Genetic Disease is the subject of 31 registered US clinical trials on ClinicalTrials.gov, 15 of them currently open to new participants. 2 are in Phase 3-4 (later-stage) and 3 in Phase 1-2 (earlier-stage). The most active sponsor is University of California, San Diego, running 3 of these trials.
Enrollment posture brief
Registry condition genetic-disease
OPEN 15 | RECR 48% | LATE 2 | EARLY 3 | RANK #495 | SPON 3
Volume-matched condition peers
Nearest open-share peer: Lupus Nephritis (48% recruiting · 31 trials)
Genetic Disease lists 15 open slots (48% of 31 indexed trials). Peers are matched on registered volume, not therapeutic-area browse lists. How peer matching works →
Key findings
What ClinicalTrials.gov does not surface for Genetic Disease on its own pages , computed from the registry mirror as of 2026-08-08. Each line carries its own denominator so it can be quoted as it stands.
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Genetic Disease is recruiting above its size-band peers.
15 of 31 indexed trials (48.4%) are open to enrollment, against a 39.7% average across 762 conditions with 20-99 trials. The peer set uses the same ClinicalTrials.gov-derived counts as this page.
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Sponsorship of Genetic Disease trials is spread across many organizations.
University of California, San Diego accounts for 3 of 31 trials (9.7%). 22 distinct sponsors appear on at least one study for this condition label.
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Typical Genetic Disease enrolment sits around 279 participants.
Median target enrolment is 279 among the 31 trials that report a genuine target (sentinel values excluded). 11 of those (35.5%) plan for fewer than 100 participants.
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Genetic Disease splits between interventional and observational designs.
15 interventional and 16 observational studies make up this index (48.4% interventional). Study type is sponsor-reported on ClinicalTrials.gov.
Open and recent trials
31 total, page 1 of 1
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
National Human Genome Research Institute (NHGRI)
NCT02450851
An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing
Rady Pediatric Genomics & Systems Medicine Institute
NCT06306521
Follow-up With Preimplantation Genetic Testing Patients
Genomic Prediction
NCT04477863
Rett Syndrome Registry
International Rett Syndrome Foundation
NCT05432349
Diagnostic Odyssey: Whole Genome Sequencing (WGS)
Nicklaus Children's Hospital f/k/a Miami Children's Hospital
NCT03458962
STXBP1 and SYNGAP1 Related Disorders Natural History Study
Children's Hospital of Philadelphia
NCT06555965
UW Undiagnosed Genetic Diseases Program
University of Wisconsin, Madison
NCT04586075
Investigating Hereditary Risk In Thoracic Cancers (INHERIT)
Dana-Farber Cancer Institute
NCT05587439
Genetic Disorders of Obesity Program Database
Baylor College of Medicine
NCT05747976
Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders
Boston Children's Hospital
NCT03967743
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
Boston Children's Hospital
NCT05528744
Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
Hugo W. Moser Research Institute at Kennedy Krieger
NCT03624374
Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
Children's Hospital of Philadelphia
NCT03301038
Natural History Study of Patients with HPDL Mutations
University of California, San Diego
NCT05848271
Large Language Models To Improve the Quality of Care of Cardiology Patients
Stanford University
NCT06935253
The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment
Vanderbilt University Medical Center
NCT05277116
Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease
Vanderbilt University Medical Center
NCT06744543
Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)
Essentia Health
NCT05238519
Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease
Columbia University
NCT05297812
iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset Disorders
Illumina
NCT05049967
Long Term Extension Study in Patients With Primary Hyperoxaluria
Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
NCT04042402
Overcoming Barriers to Accessing Genetic Medicine
Boston Children's Hospital
NCT05064241
Grand Valley State University (GVSU) Skills on Wheels
Grand Valley State University
NCT05339932
Pediatric Powered Wheelchair Standing Devices: An Exploratory Study
Grand Valley State University
NCT05117827
An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy
University of California, San Diego
NCT07222371
Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A
University of California, San Diego
NCT06314490
Ensuring Patients' Informed Access to Noninvasive Prenatal Testing
The Cleveland Clinic
NCT03420274
Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)
National Human Genome Research Institute (NHGRI)
NCT02156102
Implementing an Individualized Pain Plan (IPP) for ED Treatment of VOE's in Sickle Cell Disease
Duke University
NCT04584528
Genomic Sequencing in Acutely Ill Neonates
Children's Mercy Hospital Kansas City
NCT02225522
Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells From Maternal Peripheral Blood
Columbia University
NCT04285814
Phase Distribution
| Phase | Trial count |
|---|---|
| Phase 1 | 2 |
| Phase 2 | 1 |
| Phase 3 | 2 |
Top Sponsors
Named interventions
Most-linked intervention names on Genetic Disease records (sponsor-reported on ClinicalTrials.gov). Counts are trial links, not unique products.
US sites by state
Facility locations filed on Genetic Disease trials. A trial with sites in several states counts in each.
Source: ClinicalTrials.gov, National Library of Medicine. Data is informational only.
Related
What to do with this Genetic Disease page
31 registered trials, 15 currently recruiting, is a starting point for a conversation, not a diagnosis or a recommendation.
- 15 Genetic Disease trials are currently recruiting, check eligibility criteria before contacting a site. Browse recruiting trials
- University of California, San Diego sponsors the most Genetic Disease trials on record, review their full trial history before evaluating a specific study. See University of California, San Diego's trials
- Bring the specific trial ID (NCT number) to your own doctor before enrolling, this page is a directory, not medical guidance. Read the trial-finding guide
Trial and recruiting counts reflect ClinicalTrials.gov registry status as of the data vintage above; individual trial eligibility and enrollment status can change.
Every figure on PlainTrial is rendered directly from the ClinicalTrials.gov registry, no number is typed in by an editor. This Genetic Disease condition card totals 31 registered trials; most-linked intervention Electronic Health Record (EHR) Embedded Individualized Pain Plan (IPP); top US site state California. See our editorial standards & corrections policy, the methodology behind these numbers, the data changelog, or report a data error.