PARTICIPATE IN RESEARCH

Study Type: Outcome Measure Development
Age Range: 2+ years
Location: Virtual

The ORCA Measure is a questionnaire that assesses the communication ability of individuals with neurodevelopmental disorders that significantly impact verbal speech. The intended use of the ORCA Measure is to assess an individual's baseline communication ability level and subsequent changes in communication ability over time in a research study. The measure's content was originally developed for Angelman syndrome (AS) and has also been validated in Rett syndrome. With a grant from the FDA, the ORCA measure is currently being evaluated for twelve other neurodevelopmental disorders, including Phelan-McDermid syndrome (PMS) thanks to CureSHANK’s membership in CombinedBRAIN. CureSHANK has coordinated with the Phelan-McDermid Syndrome Foundation (PMSF) to recruit PMS families in two stages in 2024.

Study Type: Bio-sample Collection
Age Range: Individuals of all ages diagnosed with Phelan-McDermid syndrome and unaffected siblings
Location(s): Multiple locations from Jun to Dec 2023

Interested in participating in biomarker research? COMBINEDBrain is a non-profit consortium of over 60 patient advocacy groups for rare, genetic neurodevelopmental disorders, including CureSHANK. They recognize the need to collect patient samples for researchers to identify biomarkers to be used to treat /develop treatments for our children. They are on a mission to collect ~500 samples from our member organizations over the next 6-8 months and CureSHANK is one of them. Samples collected from the Phelan-McDermid syndrome community will be stored and available to researchers across the world.

Are you or one of your family members interested in participating in this exciting project for Phelan-McDermid syndrome? The last opportunity to participate in this project is in Orlando, FL on November 30 and December 1m

Study Type: Observational
Age Range: Caregivers over age 18 of individuals with Phelan-McDermid syndrome
Location(s): Rochester, NY (no travel required)

Are you a caregiver for a loved one with Phelan-McDermid syndrome? Do you have 20 minutes to take a survey ? This opportunity to provide insights gained from your caregiving experience is a great way to participate in research. Learn more below or take the survey now!

The purpose of this study is to develop and validate a disease-specific, observer-reported outcome measure for clinical trials of patients with several Neurodevelopmental Disorders (NDDs), including SHANK3 / Phelan-McDermid syndrome (PMS). The study is being conducted in multiple phases and is currently recruiting for Phase 2, which involves a survey regarding potential symptoms of importance to patients with NDDs, as reported by caregivers. Phase 2 survey respondents must be caregivers, aged 18 and up, of individuals with PMS or one of the other NDDs.
Contacts
Jennifer Weinstein, jennifer.weinstein@chet.rochester.edu
Charlotte Engebrecht, charlotte.engebrecht@chet.rochester.edu

Study Type: Observational
Age Range: 18-months and older
Location(s): Stanford, CA; Chicago; Bethesda, Maryland; Boston; New York, NY

The purpose of this study is to comprehensively characterize Phelan-McDermid syndrome (PMS) using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.

Study Type: Interventional
Age Range: 2-40 years old
Location(s): Messina, Italy

This double-blind, cross-over, randomized, controlled trial (RCT) has the aim of evaluating the effectiveness of a metabolic support therapy in two cohorts of patients with idiopathic Autism Spectrum Disorder or Phelan-McDermid syndrome, commonly associated with syndromic autism. Each patient will receive Q10 ubiquinol + Vit. E and B for 4 months and only Vit. E and B for 4 months in a double-blind, cross-over design. Primary outcome measures of efficacy include Vineland Adaptive Behavior Scales, Childhood Autism Rating Scale, Clinical Global Impression-Improvement and Visual Analog Scales; secondary outcome measures include several questionnaires and tests of autism, cognitive function, problem behaviors, quality of life, communication and comorbid disorders, as well as measures of oxidative stress.

Study Type: Interventional
Age Range: 7-18 years old
Location(s): Paris, France

​There is currently no treatment for the body symptoms of Autism Spectrum Disorders (ASD). However, basic research suggests that some forms of ASD may be alleviated, even in the adult stage. The genes involved in ASDs particularly impact synaptic homeostasis. Specific clinical trials in patients with synaptic mutations need to be carried out. In this spirit, patients with deleterious mutations in SHANK3 represent a paradigm. The induced pluripotent stem cells (iPSc) carrying SHANK3 mutations and derived in neurons, can be used for high-throughput screening of pharmacological substances and allow the identification of compounds that can restore the expression level of SHANK3. The objective of this proposed project is to test one of the compounds identified by research on these iPSc as a novel treatment for social communication deficit in patients with deleterious mutations in SHANK3. Its effect on the symptoms of the social deficit could represent a new perspective for other forms of idiopathic autism.