ORPHA:662172
Phelan-McDermid syndrome due to SHANK3 mutation
Publications
1
7th percentile
Trials
0
Interventional, condition-specific
Researchers
4
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0971069
- UMLS:C5925128
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1 matched papers (1 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 16 for broader category Phelan-McDermid syndrome
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
1
1 paper have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1 in the last 10 years · high confidence · 7th percentile (publications denominator)
Phrase hits: 1 · MeSH hits: 0
Who's working on it?
4
Distinct author names in 1 sampled paper — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Egger JIM1 paper · 2017
Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute of Psychiatry, Venray, Netherlands.
Papers in Europe PMC - 02Groenendijk-Reijenga R1 paper · 2017
Centre for People with Intellectual Disabilities, Ipse de Bruggen, Zwammerdam, Netherlands.
Papers in Europe PMC - 03Kant SG1 paper · 2017
Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands.
Papers in Europe PMC - 04Verhoeven WMA1 paper · 2017
Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute of Psychiatry, Venray, Netherlands.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 16 trials are registered for Phelan-McDermid syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
16 interventional trials matched Phelan-McDermid syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Phelan-McDermid syndrome
16
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT03836300·ENROLLING BY INVITATION·Parent and Infant Inter(X)Action Intervention (PIXI)
Conditions: Fragile X Syndrome · Angelman Syndrome · Prader-Willi Syndrome · Dup15Q Syndrome·Matched via name phrase
- NCT07593391·RECRUITING·An Open-label Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome
Conditions: Phelan-McDermid Syndrome·Matched via name phrase
- NCT07119606·NOT YET RECRUITING·Multicenter Study of Patients With SHANK3 Mutations: Identification of Genes Modificators in Phelan-McDermid Syndrome (EUQ13)
Conditions: Genetic Disease·Matched via name phrase
- NCT06662188·RECRUITING·JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency
Conditions: SHANK3 Haploinsufficiency · Phelan-McDermid Syndrome·Matched via name phrase
- NCT07690527·ENROLLING BY INVITATION·Long-Term Follow-Up Study for RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS)
Conditions: SHANK3 Haploinsufficiency · Phelan-McDermid Syndrome·Matched via name phrase
- NCT07281079·RECRUITING·A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome
Conditions: Phelan-McDermid Syndrome·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Phelan-McDermid syndrome due to SHANK3 mutation"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Phelan-McDermid syndrome due to SHANK3 mutation"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Phelan-McDermid syndrome"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T20:09:38.112Z