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NCT03426059
Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
trial testing No Intervention in Phelan-McDermid Syndrome in 24 participants. Completed in 31 December 2020.
31 December 2019
Quick facts
| Lead sponsor | Boston Children's Hospital |
|---|---|
| Status | Completed |
| Study type | OBSERVATIONAL |
| Enrollment | 24 |
| Start date | 22 May 2018 |
| Primary completion | 31 December 2019 |
| Estimated completion | 31 December 2020 |
| Sites | 6 locations across United States |
Drugs / interventions tested
- No Intervention
Conditions studied
- Phelan-McDermid Syndrome — all drugs for Phelan-McDermid Syndrome →
- Autism Spectrum Disorder — all drugs for Autism Spectrum Disorder →
- Intellectual Disability — all drugs for Intellectual Disability →
Sponsor
Boston Children's Hospital
Who can join
22 and older, any sex, with Phelan-McDermid Syndrome or Autism Spectrum Disorder. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
The protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. The first aim involves a physical exam, a neurological exam, collection of medical history information, a clinical genetic evaluation, blood work and neuropsychological assessments. If clinically indicated, the protocol collects information from medical tests. These medical tests may include electrocardiography, echocardiography, renal ultrasonography, and renal ultrasound.
Publications & conference data
No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.
Verify or expand the search:
- PubMed search for NCT03426059
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
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Trials testing the same drug.
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Other recruiting trials for Phelan-McDermid Syndrome
Currently open trials in the same condition.
- NCT07281079 — A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome · Phase 3 · recruiting
- NCT07014020 — RB001 Gene Therapy Study in Children With SHANK3-related Phelan McDermid Syndrome (PMS) · NA · recruiting
Other Boston Children's Hospital trials
Trials by the same sponsor.
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT03426059 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Boston Children's Hospital
- Last refreshed: 18 February 2025
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT03426059.
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