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Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

N/A
Waitlist Available
Research Sponsored by Boston Children's Hospital
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Timeline
Screening 3 weeks
Treatment Varies
Follow Up 24 months
Awards & highlights
No Placebo-Only Group

Summary

This trial is studying PMS in order to comprehensively understand it, track how it develops, and identify possible biomarkers and genetic factors.

Eligible Conditions
  • Autism Spectrum Disorder
  • Phelan-McDermid Syndrome
  • Intellectual Disability
  • Autism

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~24 months
This trial's timeline: 3 weeks for screening, Varies for treatment, and 24 months for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.
Primary study objectives
Change in adaptive behavior at 12 months
Change in adaptive behavior at 24 months
Change in autism symptoms at 12 months
+7 more

Awards & Highlights

No Placebo-Only Group
All patients enrolled in this study will receive some form of active treatment.

Find a Location

Who is running the clinical trial?

National Institute of Neurological Disorders and Stroke (NINDS)NIH
1,382 Previous Clinical Trials
652,146 Total Patients Enrolled
3 Trials studying Autism Spectrum Disorder
290 Patients Enrolled for Autism Spectrum Disorder
Boston Children's HospitalLead Sponsor
788 Previous Clinical Trials
5,582,366 Total Patients Enrolled
21 Trials studying Autism Spectrum Disorder
5,210 Patients Enrolled for Autism Spectrum Disorder
National Center for Advancing Translational Sciences (NCATS)NIH
374 Previous Clinical Trials
412,131 Total Patients Enrolled
5 Trials studying Autism Spectrum Disorder
453 Patients Enrolled for Autism Spectrum Disorder
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)NIH
2,063 Previous Clinical Trials
2,746,134 Total Patients Enrolled
37 Trials studying Autism Spectrum Disorder
10,070 Patients Enrolled for Autism Spectrum Disorder
Office of Rare Diseases (ORD)NIH
43 Previous Clinical Trials
12,149 Total Patients Enrolled
1 Trials studying Autism Spectrum Disorder
205 Patients Enrolled for Autism Spectrum Disorder
Phelan-McDermid Syndrome FoundationOTHER
2 Previous Clinical Trials
4,436 Total Patients Enrolled
1 Trials studying Autism Spectrum Disorder
24 Patients Enrolled for Autism Spectrum Disorder
National Institutes of Health (NIH)NIH
2,828 Previous Clinical Trials
8,169,486 Total Patients Enrolled
21 Trials studying Autism Spectrum Disorder
2,316 Patients Enrolled for Autism Spectrum Disorder
National Center for Advancing Translational Science (NCATS)NIH
99 Previous Clinical Trials
31,919 Total Patients Enrolled
1 Trials studying Autism Spectrum Disorder
205 Patients Enrolled for Autism Spectrum Disorder
Alexander Kolevzon, MDStudy ChairIcahn School of Medicine at Mount Sinai
13 Previous Clinical Trials
317 Total Patients Enrolled
7 Trials studying Autism Spectrum Disorder
186 Patients Enrolled for Autism Spectrum Disorder
~18 spots leftby Dec 2025
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