Phelan-McDermid SyndromeNCT03426059
Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
An observational study of Phelan-McDermid Syndrome and Autism Spectrum Disorder, run by Boston Children's Hospital at 6 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 22 years and older
- Conditions the study is for
- Phelan-McDermid Syndrome, Autism Spectrum Disorder, Intellectual Disability
- How many people
- 24 participants
- Where
- 6 sitesUnited States
- Study dates
- 22 May 2018to 31 Dec 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 22 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: 30 adult subjects with PMS will be enrolled across the 6 sites for this study
Who may be able to join
- 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
Who cannot join
- None
Trial locations and contacts
6 sites in 1 country.
6 sites in 1 country
United States6 sites
National Institutes of Health
Bethesda, Maryland, 20892
Boston Children's Hospital
Boston, Massachusetts, 02115
Rush University Medical Center
Chicago, Illinois, 60612
University of Texas Southwestern
Dallas, Texas, 75390
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
Stanford University
Stanford, California, 94305
About this study
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.
Read 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 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
- Being tested
- No Intervention
- Keywords
- Phelan-McDermid Syndrome, PMS, Genotype, Phenotype, Mapping, 22q13 Deletion Syndrome, SHANK3, Autism Spectrum Disorder, ASD, Intellectual Disability, ID
- Medical subject headings
- Telomeric 22q13 Monosomy Syndrome, Autism Spectrum Disorder, Intellectual Disability
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No InterventionOther
No Intervention. This is an observational study.
| Study group | Role | What they receive |
|---|---|---|
| Phelan-McDermid Syndrome | Phelan-McDermid Syndrome Receives: Other: No Intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Global cognitive ability
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
Measured: Baseline
Measure of Adaptive Behavior
Using the standardized composite score from the Vineland Adaptive Behavior Scales (20-160, where higher values represent a better outcome) to measure adaptive behavior
Measured: Baseline
Measure of Overall Language Abilities
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
Measured: Baseline
Measure of Overall Motor Functioning
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
Measured: Baseline
Measure of autism symptoms
Using the standardized comparison score from the Autism Diagnostic Observation Scale (1-10, where higher values represent a worse outcome) to measure autism
Measured: Baseline
Secondary outcomes (2)
Measure of Receptive Language Abilities
Using standardized scores from the Peabody Picture Vocabulary Test (20-160, where higher values represent a better outcome) to measure receptive language abilities
Measured: Baseline
Measure of Expressive Language Abilities
Using standardized scores from the Expressive Vocabulary Test (20-160, where higher values represent a better outcome) to measure expressive language abilities
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Feb 2018
- Study start22 May 2018
- Primary completion31 Dec 2019
- Study completion31 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Phelan-McDermid SyndromeStudies of the same condition, open and under way.
- More trials run by Boston Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 24 participants (actual)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Phelan-McDermid Syndrome Foundation
- Responsible party
- Principal investigator, Mustafa Sahin, Boston Children's Hospital
- Investigators
- Alexander Kolevzon, MD, Study chair, Seaver Autism Center, Mount Sinai School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03426059
- Sponsor's protocol ID
- IRB-P00025776
- Status last verified
- Feb 2025
- First submitted
- 31 Jan 2018
- Last updated
- 18 Feb 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
- ClinicalTrials.gov ID
- NCT03426059
- Acronym / sponsor ID
- IRB-P00025776
- Keywords
- Phelan-McDermid Syndrome, PMS, Genotype, Phenotype, Mapping, 22q13 Deletion Syndrome, SHANK3, Autism Spectrum Disorder
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 24 participants (actual)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Collaborators
- Phelan-McDermid Syndrome Foundation
- Study start
- 22 May 2018 (actual)
- Primary completion
- 31 Dec 2019 (actual)
- Study completion
- 31 Dec 2020 (actual)
- First posted
- 8 Feb 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Phelan-McDermid Syndrome | – | Other: No InterventionPhelan-McDermid Syndrome |
Who may qualify
- Ages
- 22 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 30 adult subjects with PMS will be enrolled across the 6 sites for this study
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No InterventionNo Intervention. This is an observational study. | Other | Phelan-McDermid Syndrome |
Primary outcome
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
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
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
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
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
2 secondary outcomes
Measure of Receptive Language Abilities
Time frame: Baseline
Measure of Expressive Language Abilities
Time frame: Baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Feb 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Alexander Kolevzon, MD study chair
Seaver Autism Center, Mount Sinai School of Medicine
6 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phelan-McDermid Syndrome and Autism Spectrum Disorder, run by Boston Children's Hospital at 6 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Global cognitive ability (time frame: Baseline). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Feb 2025.