Phelan-McDermid SyndromeNCT02461420
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
An observational study of Phelan-McDermid Syndrome and Autism Spectrum Disorder, run by Boston Children's Hospital at 5 sites in United States.
Trial summary
The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. Read more about this study
- Who is it for?
- Ages 18 months and olderHealthy volunteers can take part
- Conditions the study is for
- Phelan-McDermid Syndrome, Autism Spectrum Disorder, Intellectual Disability
- How many people
- 207 participants
- Where
- 5 sitesUnited States
- Study dates
- May 2015to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 18 months and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: 190 subjects with PMS will be enrolled across the 6 sites for this study
Who may be able to join
- Individuals older than 18 months of age with pathogenic deletions or mutations of the SHANK3 gene
- English speaking individuals
Who cannot join
- Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment
- For subjects involved in imaging biomarker assessment: contraindications to 3T MRI scanning, such as metal implants/non-compatible medical devices or medical conditions, including vagus nerve stimulator
- For subjects involved in EEG/ ERP biomarker assessment: contraindications to EEG/ERP, such as uncooperative or destructive behaviors preventing lead placement or capture by ERP/VEP equipment. Under age 2 or over age 11 at the time of enrollment.
- Unwilling or unable to comply with study procedures and assessments
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
National Institutes of Health
Bethesda, Maryland, 20892
Boston Children's Hospital
Boston, Massachusetts, 02115
Rush University Medical Center
Chicago, Illinois, 60612
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
Stanford University
Stanford, California, 94305
About this study
The purpose of this study is to comprehensively characterize 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.
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 phenotype and the biological pathways associated with ID and ASD 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 18 months or older with pathogenic deletions or mutations of the SHANK3 gene at time of enrollment, as well as healthy controls. 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.
The study involves 3 on site visits over 2 years. Study visits involve a physical exam, medical history questions, blood work and neuropsychological assessments. A subset of participants between the ages of 2 and 11 years old will take part in the EEG portion of the study. Individuals who have a clinically indicated MRI will have an option to provide routine clinical scans for analysis.
- Keywords
- Phelan-McDermid Syndrome, PMS, Genotype, Phenotype, Natural History, Mapping, 22q13 Deletion Syndrome, SHANK3, Autism Spectrum Disorder, ASD, Intellectual Disability, ID, EEG
- 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.
| Study group | Role | What they receive |
|---|---|---|
| Phelan-McDermid Syndrome | Phelan-McDermid Syndrome |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in global cognitive ability at 12 months
Using Mullen Scales for Early Learning or Stanford Binet-5 to measure global cognitive ability
Measured: 12 months
Change in adaptive behavior at 12 months
Using Vineland Adaptive Behavior Scales to measure adaptive behavior
Measured: 12 months
Change in language abilities at 12 months
Using composite of Mullen Subscales, Vineland Subscales and Macarthur Bates Communication Developmental Inventory to measure language
Measured: 12 months
Change in motor functioning at 12 months
Using composite of Mullen Subscales and Vineland Subscales to measure motor functioning
Measured: 12 months
Change in autism symptoms at 12 months
Using composite of Autism Diagnostic Observation Schedule and Repetitive Behavior Scales-Revised to measure autism
Measured: 12 months
Change in global cognitive ability at 24 months
Using Mullen Scales for Early Learning or Stanford Binet-5 to measure global cognitive ability
Measured: 24 months
Change in adaptive behavior at 24 months
Using Vineland Adaptive Behavior Scales to measure adaptive behavior
Measured: 24 months
Change is language abilities at 24 months
Using composite of Mullen Subscales, Vineland Subscales and Macarthur Bates Communication Developmental Inventory to measure language
Measured: 24 months
Change in motor functioning at 24 months
Using composite of Mullen Subscales and Vineland Subscales to measure motor functioning
Measured: 24 months
Change in autism symptoms at 24 months
Using composite of Autism Diagnostic Observation Schedule and Repetitive Behavior Scales-Revised to measure autism
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Jun 2015 (estimated)
- Study startMay 2015
- Primary completionDec 2025
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- 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
- 207 participants (actual)
Sponsor and investigators
- Lead sponsor
- Boston Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Office of Rare Diseases (ORD), National Center for Advancing Translational Sciences (NCATS), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Phelan-McDermid Syndrome Foundation
- Responsible party
- Principal investigator, Mustafa Sahin, Boston Children's Hospital
- Investigators
- Alexander Kolevzon, MD, Study chair, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02461420
- Sponsor's protocol ID
- P00013300
- Other IDs
- 1U54NS092090
- Status last verified
- Aug 2026
- First submitted
- 11 May 2015
- Last updated
- 6 Aug 2026
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Bassell J, Srivastava S, Prohl AK, Scherrer B, Kapur K, Filip-Dhima R, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Buxbaum JD, Kolevzon A, Warfield SK, Sahin M; Developmental Synaptopathies Consortium. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 May;106:24-31. doi: 10.1016/j.pediatrneurol.2020.01.006. Epub 2020 Jan 31.
PubMed 32107139Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M; Developmental Synaptopathies Consortium. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 Jan;90:37-43. doi: 10.1016/j.pediatrneurol.2018.09.008. Epub 2018 Sep 21.
PubMed 30396833
Study at a glance
From the registry record, last updated by the sponsor on 6 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
- ClinicalTrials.gov ID
- NCT02461420
- Acronym / sponsor ID
- P00013300
- Keywords
- Phelan-McDermid Syndrome, PMS, Genotype, Phenotype, Natural History, Mapping, 22q13 Deletion Syndrome, SHANK3
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 207 participants (actual)
- Lead sponsor
- Boston Children's HospitalUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Office of Rare Diseases (ORD), National Center for Advancing Translational Sciences (NCATS), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Phelan-McDermid Syndrome Foundation
- Study start
- May 2015
- Primary completion
- Dec 2025 (actual)
- Study completion
- Dec 2026 (estimated)
- First posted
- 3 Jun 2015 (estimated)
- 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 purpose of this study is to comprehensively characterize 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.
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 phenotype and the biological pathways associated with ID and ASD 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 18 months or older with pathogenic deletions or mutations of the SHANK3 gene at time of enrollment, as well as healthy controls. 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.
The study involves 3 on site visits over 2 years. Study visits involve a physical exam, medical history questions, blood work and neuropsychological assessments. A subset of participants between the ages of 2 and 11 years old will take part in the EEG portion of the study. Individuals who have a clinically indicated MRI will have an option to provide routine clinical scans for analysis.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Phelan-McDermid Syndrome | – | –Phelan-McDermid Syndrome |
Who may qualify
- Ages
- 18 months and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 190 subjects with PMS will be enrolled across the 6 sites for this study
Key inclusion criteria (2 listed)
- Individuals older than 18 months of age with pathogenic deletions or mutations of the SHANK3 gene
- English speaking individuals
Key exclusion criteria (4 listed)
- Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment
- For subjects involved in imaging biomarker assessment: contraindications to 3T MRI scanning, such as metal implants/non-compatible medical devices or medical conditions, including vagus nerve stimulator
- For subjects involved in EEG/ ERP biomarker assessment: contraindications to EEG/ERP, such as uncooperative or destructive behaviors preventing lead placement or capture by ERP/VEP equipment. Under age 2 or over age 11 at the time of enrollment.
- Unwilling or unable to comply with study procedures and assessments
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change in global cognitive ability at 12 months
Time frame: 12 months
Using Mullen Scales for Early Learning or Stanford Binet-5 to measure global cognitive ability
Change in adaptive behavior at 12 months
Time frame: 12 months
Using Vineland Adaptive Behavior Scales to measure adaptive behavior
Change in language abilities at 12 months
Time frame: 12 months
Using composite of Mullen Subscales, Vineland Subscales and Macarthur Bates Communication Developmental Inventory to measure language
Change in motor functioning at 12 months
Time frame: 12 months
Using composite of Mullen Subscales and Vineland Subscales to measure motor functioning
Change in autism symptoms at 12 months
Time frame: 12 months
Using composite of Autism Diagnostic Observation Schedule and Repetitive Behavior Scales-Revised to measure autism
Change in global cognitive ability at 24 months
Time frame: 24 months
Using Mullen Scales for Early Learning or Stanford Binet-5 to measure global cognitive ability
Change in adaptive behavior at 24 months
Time frame: 24 months
Using Vineland Adaptive Behavior Scales to measure adaptive behavior
Change is language abilities at 24 months
Time frame: 24 months
Using composite of Mullen Subscales, Vineland Subscales and Macarthur Bates Communication Developmental Inventory to measure language
Change in motor functioning at 24 months
Time frame: 24 months
Using composite of Mullen Subscales and Vineland Subscales to measure motor functioning
Change in autism symptoms at 24 months
Time frame: 24 months
Using composite of Autism Diagnostic Observation Schedule and Repetitive Behavior Scales-Revised to measure autism
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Aug 2026.
- Derived from this study: PubMed 32107139Bassell J, Srivastava S, Prohl AK, Scherrer B, Kapur K, Filip-Dhima R, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Buxbaum JD, Kolevzon A, Warfield SK, Sahin M; Developmental Synaptopathies Consortium. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 May;106:24-31. doi: 10.1016/j.pediatrneurol.2020.01.006. Epub 2020 Jan 31.
- Derived from this study: PubMed 30396833Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M; Developmental Synaptopathies Consortium. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 Jan;90:37-43. doi: 10.1016/j.pediatrneurol.2018.09.008. Epub 2018 Sep 21.
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Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
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JAG201 Gene Therapy Study in Children & Adults With SHANK3 Haploinsufficiency
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RB001 Gene Therapy Study in Children With SHANK3-related Phelan-McDermid Syndrome (PMS)
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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
Icahn School of Medicine at Mount Sinai
5 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 5 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 2 inclusion and 4 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: under way, not looking for participants, as of the sponsor's last update on 6 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 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?
This study is still under way. Results are not available in the source record yet.
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?
Change in global cognitive ability at 12 months (time frame: 12 months). The study lists 10 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02461420, which also lists 2 linked publications.
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 6 Aug 2026.