Medical Information Only. Consult your healthcare provider before considering clinical trial enrollment.
Phelan-McDermid Syndrome: full-pipeline trial registry
2 of 5 indexed Phelan-McDermid Syndrome trials are currently recruiting.
Corpus placement: #3,391 of 28,707 conditions by registered trial count.
5 US clinical trials · 2 currently recruiting · #3,391 of 28,707 conditions by registered trial count
Phelan-McDermid Syndrome: 5 US clinical trials tracked, 2 recruiting.
Phelan-McDermid Syndrome is the subject of 5 registered US clinical trials on ClinicalTrials.gov, 2 of them currently open to new participants. 1 are in Phase 3-4 (later-stage) and 1 in Phase 1-2 (earlier-stage). The most active sponsor is Boston Children's Hospital, running 2 of these trials.
Enrollment posture brief
Registry condition phelan-mcdermid-syndrome
OPEN 2 | RECR 40% | LATE 1 | EARLY 1 | RANK #3391 | SPON 2
Volume-matched condition peers
Nearest open-share peer: Achondroplasia (40% recruiting · 10 trials)
Phelan-McDermid Syndrome lists 2 open slots (40% of 5 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 Phelan-McDermid Syndrome 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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Phelan-McDermid Syndrome is recruiting below its size-band peers.
2 of 5 indexed trials (40%) 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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One sponsor concentrates Phelan-McDermid Syndrome research.
Boston Children's Hospital accounts for 2 of 5 trials (40%). 4 distinct sponsors appear on at least one study for this condition label.
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Most Phelan-McDermid Syndrome trials plan to enrol fewer than 100 people.
Median target enrolment is 51 among the 5 trials that report a genuine target (sentinel values excluded). 3 of those (60%) plan for fewer than 100 participants.
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Phelan-McDermid Syndrome research leans observational.
2 interventional and 3 observational studies make up this index (40% interventional). Study type is sponsor-reported on ClinicalTrials.gov.
Open and recent trials
5 total, page 1 of 1
A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome
Neuren Pharmaceuticals Limited
NCT07281079
JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency
Jaguar Gene Therapy
NCT06662188
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Boston Children's Hospital
NCT02461420
Mitochondrial Dysfunction in Phelan-McDermid Syndrome
University of Arkansas
NCT02000167
Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
Boston Children's Hospital
NCT03426059
Phase Distribution
| Phase | Trial count |
|---|---|
| Phase 1 | 1 |
| Phase 3 | 1 |
Top Sponsors
Named interventions
Most-linked intervention names on Phelan-McDermid Syndrome records (sponsor-reported on ClinicalTrials.gov). Counts are trial links, not unique products.
US sites by state
Facility locations filed on Phelan-McDermid Syndrome 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 Phelan-McDermid Syndrome page
5 registered trials, 2 currently recruiting, is a starting point for a conversation, not a diagnosis or a recommendation.
- 2 Phelan-McDermid Syndrome trials are currently recruiting, check eligibility criteria before contacting a site. Browse recruiting trials
- Boston Children's Hospital sponsors the most Phelan-McDermid Syndrome trials on record, review their full trial history before evaluating a specific study. See Boston Children's Hospital'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 Phelan-McDermid Syndrome condition card totals 5 registered trials; most-linked intervention NNZ-2591; top US site state New York. See our editorial standards & corrections policy, the methodology behind these numbers, the data changelog, or report a data error.