This study is currently recruiting participants.
Number
15-M-0139
Sponsoring Institute
National Institute of Mental Health (NIMH)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 Years Max Age: N/A
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
Biomarkers; Phenotyping; Brain Imaging; Phelan McDermid Syndrome; Neurodevelopmental; Natural History
Recruitment Keyword(s)
Condition(s)
Phelan McDermid Syndrome; 22q13 Deletion Syndrome; Pathogenic Deletions or Mutations of the SHANK3 gene
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Mental Health
- Phelan-McDermid Syndrome (PMS) is a rare disease caused by a change in a gene. People with Phelan-McDermid Syndrome often have intellectual disability or autism or other delays in development. They may also have sleep problems, seizures, kidney problems, and other symptoms. Researchers want to learn more about this disease.
Objective:
- To learn more about the medical, behavioral, and cognitive features of Phelan-McDermid Syndrome; to follow the natural history of the syndrome; to identify additional genetic factors that contribute to the symptoms.
Eligibility:
- People ages 18months 21 who have been diagnosed with Phelan-McDermid Syndrome
- First-degree relatives of people with Phelan-McDermid Syndrome.
Design:
- Participants will have 5 study visits over 3 years.
- At the start, 12-month, and 24-month visits, participants will visit the study center for several tests. They will have blood drawn. They will have cognitive testing. Their head size, weight, and height will be measured.
- Participants will have physical and neurological exams. They may be asked to identify objects, focus on certain information, solve problems, or play games.
- Parents will be asked questions about their medical and family history. They will get questions about the participant s current symptoms, functioning, and communication.
- Photos of the participant s feet, face, and hands will be taken.
- At the 6- and 18-month points, participants or parents will complete questionnaires at home.
- Researchers may ask to access the participant s or parent s medical records.
- If the participant has certain scans or heart tests due, researchers will ask for the results. They may add 15 minutes to a clinically indicated MRI for research.
- Relatives in this study may be asked to give blood once a year for 3 years.
--Back to Top--
INCLUSION CRITERIA (PMS): 1. Individuals 18 months of age or older at time of enrollment with pathogenic deletions or mutations of the SHANK3 gene 2. Primary communicative language is English or Spanish. INCLUSION CRITERIA (Parents and Siblings): 1. Individuals must be biological first-degree relatives whose primary communicative language is English or Spanish with capacity to provide consent or a legal guardian who may provide consent on their behalf. INCLUSION CRITERIA (Controls): 1. Between the ages of 2-11 years 2. No underlying genetic diagnosis or other chronic medical condition associated with increased risk for ASD (e.g. traumatic brain injury, cerebral anoxia, intrauterine drug exposure) 3. Typical neurodevelopment for age (i.e., no established diagnosis or clinical suspicion for ASD or ID) A subset of at least 5 (n=5) subjects and their participating relatives will be Spanish speaking to be included as part of the Administrative Diversity Supplement. INCLUSION CRITERIA (Parent and Unaffected Siblings): 1. Individuals must be biological first-degree relatives who are English speaking with capacity to provide consent. A legal guardian may provide consent on their behalf and assent will be obtained when relevant. EXCLUSION CRITERIA (PMS and Controls): 1. Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment 2. 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 3. 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 the age of 2 or over the age of 11 at the time of enrollment. 4. Unwilling or unable to comply with study procedures and assessment 5. For healthy control subjects: Auditory or visual impairments that are uncorrected
1. Individuals 18 months of age or older at time of enrollment with pathogenic deletions or mutations of the SHANK3 gene
2. Primary communicative language is English or Spanish.
INCLUSION CRITERIA (Parents and Siblings):
1. Individuals must be biological first-degree relatives whose primary communicative language is English or Spanish with capacity to provide consent or a legal guardian who may provide consent on their behalf.
INCLUSION CRITERIA (Controls):
1. Between the ages of 2-11 years
2. No underlying genetic diagnosis or other chronic medical condition associated with increased risk for ASD (e.g. traumatic brain injury, cerebral anoxia, intrauterine drug exposure)
3. Typical neurodevelopment for age (i.e., no established diagnosis or clinical suspicion for ASD or ID)
A subset of at least 5 (n=5) subjects and their participating relatives will be Spanish speaking to be included as part of the Administrative Diversity Supplement.
INCLUSION CRITERIA (Parent and Unaffected Siblings):
1. Individuals must be biological first-degree relatives who are English speaking with capacity to provide consent. A legal guardian may provide consent on their behalf and assent will be obtained when relevant.
EXCLUSION CRITERIA (PMS and Controls):
1. Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment
2. 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
3. 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 the age of 2 or over the age of 11 at the
time of enrollment.
4. Unwilling or unable to comply with study procedures and assessment
5. For healthy control subjects: Auditory or visual impairments that are uncorrected
Principal Investigator
Referral Contact
For more information: