Status:
COMPLETED
Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
Lead Sponsor:
Boston Children's Hospital
Collaborating Sponsors:
Phelan-McDermid Syndrome Foundation
Conditions:
Phelan-McDermid Syndrome
Autism Spectrum Disorder
Eligibility:
All Genders
22+ years
Brief Summary
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...
Detailed Description
Phelan-McDermid syndrome (PMS) or 22q13 Deletion syndrome, caused by a loss of one copy of the SHANK3 gene, is characterized by global developmental delay/intellectual disability, motor skills deficit...
Eligibility Criteria
Inclusion
- Participant is 22 years of age and older at the time of enrollment
- Participant has been diagnosed with pathogenic deletions or mutations of the SHANK3 gene
- Participant is proficient in English
- Participant provided consent
Exclusion
- None
Key Trial Info
Start Date :
May 22 2018
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 31 2020
Estimated Enrollment :
24 Patients enrolled
Trial Details
Trial ID
NCT03426059
Start Date
May 22 2018
End Date
December 31 2020
Last Update
February 18 2025
Active Locations (6)
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1
Stanford University
Stanford, California, United States, 94305
2
Rush University Medical Center
Chicago, Illinois, United States, 60612
3
National Institutes of Health
Bethesda, Maryland, United States, 20892
4
Boston Children's Hospital
Boston, Massachusetts, United States, 02115