Medical Information Only. Consult your healthcare provider before considering clinical trial enrollment.
Rare Diseases: early-phase trial registry
7 of 8 indexed Rare Diseases trials are currently recruiting, with more weight in Phase 1-2.
Corpus placement: #2,176 of 28,707 conditions by registered trial count.
8 US clinical trials · 7 currently recruiting · #2,176 of 28,707 conditions by registered trial count
Rare Diseases: 8 US clinical trials tracked, 7 recruiting.
Rare Diseases is the subject of 8 registered US clinical trials on ClinicalTrials.gov, 7 of them currently open to new participants. 0 are in Phase 3-4 (later-stage) and 1 in Phase 1-2 (earlier-stage). The most active sponsor is Illumina, running 1 of these trials.
Enrollment posture brief
Registry condition rare-diseases
OPEN 7 | RECR 88% | LATE 0 | EARLY 1 | RANK #2176 | SPON 1
Volume-matched condition peers
Nearest open-share peer: Aortic Diseases (88% recruiting · 8 trials)
Rare Diseases lists 7 open slots (88% of 8 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 Rare Diseases 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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Rare Diseases is recruiting above its size-band peers.
7 of 8 indexed trials (87.5%) are open to enrollment, against a 46.5% average across 27,806 conditions with fewer than 20 trials. The peer set uses the same ClinicalTrials.gov-derived counts as this page.
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Sponsorship of Rare Diseases trials is spread across many organizations.
Illumina accounts for 1 of 8 trials (12.5%). 8 distinct sponsors appear on at least one study for this condition label.
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Typical Rare Diseases enrolment sits around 500 participants.
Median target enrolment is 500 among the 8 trials that report a genuine target (sentinel values excluded). 2 of those (25%) plan for fewer than 100 participants.
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Rare Diseases research leans observational.
3 interventional and 5 observational studies make up this index (37.5% interventional). Study type is sponsor-reported on ClinicalTrials.gov.
Open and recent trials
8 total, page 1 of 1
Epilepsy Learning Healthcare System (ELHS)
Epilepsy Foundation of America
NCT06265103
A Multi-Site Leukopak Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives
Sanguine Biosciences
NCT05794217
Longitudinal Studies of Patient With FPDMM
National Human Genome Research Institute (NHGRI)
NCT03854318
UW Undiagnosed Genetic Diseases Program
University of Wisconsin, Madison
NCT04586075
Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas
Baylor College of Medicine
NCT07102966
Baker Gordon Syndrome Natural History Study
University of Missouri-Columbia
NCT06399952
Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Microvillus Inclusion Disease (MVID)
Napo Pharmaceuticals
NCT06721871
NICUSeq: A Trial to Evaluate the Clinical Utility of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants
Illumina
NCT03290469
Phase Distribution
| Phase | Trial count |
|---|---|
| Phase 2 | 1 |
Top Sponsors
Named interventions
Most-linked intervention names on Rare Diseases records (sponsor-reported on ClinicalTrials.gov). Counts are trial links, not unique products.
US sites by state
Facility locations filed on Rare Diseases 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 Rare Diseases page
8 registered trials, 7 currently recruiting, is a starting point for a conversation, not a diagnosis or a recommendation.
- 7 Rare Diseases trials are currently recruiting, check eligibility criteria before contacting a site. Browse recruiting trials
- Illumina sponsors the most Rare Diseases trials on record, review their full trial history before evaluating a specific study. See Illumina'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 Rare Diseases condition card totals 8 registered trials; most-linked intervention clinical whole genome sequencing (cWGS); top US site state Massachusetts. See our editorial standards & corrections policy, the methodology behind these numbers, the data changelog, or report a data error.