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Completed

NCT Number: NCT03426059

Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

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.

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Key information

Conditions

Phelan-McDermid Syndrome Autism Spectrum Disorder Child Development Disorders, Pervasive Intellectual Disability Mental Disorders Nervous System Diseases Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Manifestations Pathological Conditions, Signs and Symptoms Signs and Symptoms Telomeric 22q13 Monosomy Syndrome

Age range

22 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Stanford University, Stanford, California, United States

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About this study

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 deficits, delayed or absent speech, and autism spectrum disorder. The goal of this study is to understand more about the PMS phenotypic outcomes and the biological pathways associated in the disorder, and to establish the foundation for future clinical trials in PMS and in other ID/ASD-associated disorders that share signaling pathways with PMS.

Individuals with PMS will be asked to participate in this study if they are 22 years of age or older with pathogenic deletions or mutations of the SHANK3 gene at time of enrollment. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals' primary communicative language must be English. Parents and unaffected siblings may also be asked to consent to have blood drawn for analysis.

For this study, there is only one study visit. Study visit involves a physical exam, medical history questions, blood work and neuropsychological assessments. Individuals who have certain clinically indicated procedures (i.e. MRI, EEG, etc.) due will have them done as part of the research study

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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 criteria

  • None

Treatment and study plan

No intervention

Other

No Intervention. This is an observational study.

Primary outcomes

  1. Global cognitive ability

    Time frame: Baseline

    Using standardized T-scores from the Mullen Scales for Early Learning (49 to 155, where higher values represent a better outcome) or full scale IQ scores from the Stanford Binet-5 (40 to 160, where higher values represent a better outcome) to measure global cognitive ability

  2. Measure of Adaptive Behavior

    Time frame: Baseline

    Using the standardized composite score from the Vineland Adaptive Behavior Scales (20-160, where higher values represent a better outcome) to measure adaptive behavior

  3. Measure of Overall Language Abilities

    Time frame: Baseline

    Using standardized T-scores from the Mullen Receptive Language and Expressive Language subscales (20 to 80, where higher values represent a better outcome), the standardized composite score Vineland Communication subscale (20-160, where higher values represent a better outcome) and the total raw scores from the Macarthur Bates Communication Developmental Inventory to measure overall language

  4. Measure of Overall Motor Functioning

    Time frame: Baseline

    Using standardized T-scores from the Mullen Gross and Fine Motor subscales (20-80, where higher values represent a better outcome) and the Vineland's Motor Skills Domain Standard Score (20-160, where higher values represent a better outcome) to assess motor ability

  5. Measure of autism symptoms

    Time frame: Baseline

    Using the standardized comparison score from the Autism Diagnostic Observation Scale (1-10, where higher values represent a worse outcome) to measure autism

Secondary outcomes

  1. Measure of Receptive Language Abilities

    Time frame: Baseline

    Using standardized scores from the Peabody Picture Vocabulary Test (20-160, where higher values represent a better outcome) to measure receptive language abilities

  2. Measure of Expressive Language Abilities

    Time frame: Baseline

    Using standardized scores from the Expressive Vocabulary Test (20-160, where higher values represent a better outcome) to measure expressive language abilities

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Collaborators

  • Phelan-McDermid Syndrome Foundation

Registry information

Important dates

Study start
2018
Primary completion
2019
Study completion
2020
First posted
Feb 8, 2018
Registry last updated
Feb 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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