Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
| ClinicalTrials.gov Identifier: NCT02461446 |
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Recruitment Status :
Recruiting
First Posted : June 3, 2015
Last Update Posted : September 26, 2022
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| Condition or disease |
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| PTEN ASD Autism Macrocephaly PTEN Hamartoma Tumor Syndrome |
Autism spectrum disorders (ASD) are a set of neurodevelopmental disorders characterized by social communication/interaction impairments and restricted/repetitive behaviors. ASD associated with germline heterozygous PTEN mutations (PTEN ASD) is a genetically defined sub-group that, may be one of the more prevalent genetic disorders contributing to ASD (0.5-2%). The purpose of this research study is to carefully track the phenotypic and molecular characteristics of PTEN ASD and identify biomarkers for intervention studies.
Individuals with PTEN ASD, with macrocephalic ASD without a PTEN mutation (macro-ASD), healthy controls, and individuals with PTEN mutations without ASD (PTEN no-ASD) will be asked to participate in this study if they are 18 months and older. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals' primary communicative language must be English.
The study involves 3 on site visits over the course of two years. Study visits will vary in length from about 4 hours to 6 hours. Study visits involve a physical exam, medical history questions, neuropsychological assessments, and a blood draw done for laboratory studies. 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 Type : | Observational |
| Estimated Enrollment : | 170 participants |
| Observational Model: | Cohort |
| Time Perspective: | Prospective |
| Official Title: | Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations |
| Study Start Date : | May 2015 |
| Estimated Primary Completion Date : | December 2024 |
| Estimated Study Completion Date : | December 2025 |
| Group/Cohort |
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PTEN ASD
PTEN participants with Autism Spectrum Disorder group
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PTEN no ASD
PTEN participants without Autism Spectrum Disorder group
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Controls
Healthy control group
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- Change in verbal abilities at 12 months [ Time Frame: 12 months ]Verbal and non-verbal ability will be evaluated using Stanford Binet -5 or Mullen Scales of Early Learning (MSEL) at 12 months
- Change in communication ability at 12 months [ Time Frame: 12 months ]Communication ability will be evaluated using composite score of the Peabody Picture Vocabulary Test (PPVT-4).
- Change in communication ability at 12 months [ Time Frame: 12 months ]Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 12 months.
- Change in verbal abilities at 24 months [ Time Frame: 24 months ]Verbal and non-verbal ability will be evaluated using Stanford Binet 5 or Mullen Scales of Early Learning (MSEL) at 24 months
- Change in visual perception at 12 months [ Time Frame: 12 months ]Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 12 months
- Change in working memory at 12 months [ Time Frame: 12 months ]Working memory will be evaluated using the Stanford Binet 5 at 12 months
- Change in processing speed at 12 months [ Time Frame: 12 months ]Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 12 months
- Change in working memory at 24 months [ Time Frame: 24 months ]Working memory will be evaluated using the Stanford Binet 5 at 24 months
- Change in processing speed at 24 months [ Time Frame: 24 months ]Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 24 months
- Change in visual perception at 24 months [ Time Frame: 24 months ]Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 24 months
- Change in communication ability at 24 months [ Time Frame: 24 months ]Communication ability will be evaluated using composite score of the Peabody Picture Vocabulary Test (PPVT-4) at 24 months
- Change in communication ability at 24 months [ Time Frame: 24 months ]Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 24 months.
Biospecimen Retention: Samples With DNA
Blood draw for future correlative studies in the PTEN Biorepository of the Developmental Synaptopathies Consortium.
170 subjects; 100 existing subjects, 70 newly enrolled participants; 50 controls
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | 18 Months and older (Child, Adult, Older Adult) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Inclusion Criteria
- Individuals above the age of 18 months old at the time of consent who have documentation of a clinical diagnosis of autism spectrum disorder and/or a verified PTEN mutation from a medical or mental health professional for inclusion in the PTEN ASD, PTEN no-ASD or ASD macrocephaly groups.
- Macrocephaly (head circumference greater than or equal to 98th percentile) for inclusion in the ASD macrocephaly group.
- For youths, consent from parents or legal guardian. For adults, consent from self or legal guardian.
- Youths who are able (some young or severely impaired participants may not be able to provide assent) will be asked to provide assent as per IRB guidelines.
- Families with multiple children who meet the above inclusion criteria will be permitted to have as many children participate as they wish. A separate consent form will be filled out for each child enrolled in the study.
- Primary communicative language must be English
Exclusion Criteria
- Unwilling or unable to comply with study procedures and assessments
- Clinically significant medical disease that would prohibit participation in the study procedures.
- For subjects ELIGIBLE FOR OPTIONAL 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 ELIGIBLE FOR 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 11 at the time of enrollment.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02461446
| Contact: Rajna Filip-Dhima, MS | 617-919-7068 | Rajna.Filip-Dhima@childrens.harvard.edu |
| United States, California | |
| University of California at Los Angeles | Recruiting |
| Los Angeles, California, United States, 90095 | |
| Contact: Irma Gutierrez 310-794-5065 IrmaGutierrez@mednet.ucla.edu | |
| Principal Investigator: Julian Martinez, MD, PhD | |
| Stanford University Medical Center | Recruiting |
| Stanford, California, United States, 94305 | |
| Contact: Robin Libove 650-736-1235 rlibove@stanford.edu | |
| Principal Investigator: Antonio Hardan, MD | |
| United States, Massachusetts | |
| Boston Children's Hospital | Recruiting |
| Boston, Massachusetts, United States, 02115 | |
| Contact: Emine Arcasoy 617-919-7624 Emine.Arcasoy@childrens.harvard.edu | |
| Principal Investigator: Mustafa Sahin, MD, PhD | |
| United States, Ohio | |
| Cincinnati Children's Hospital Medical Center | Recruiting |
| Cincinnati, Ohio, United States, 45229 | |
| Contact: Molly Griffith 513-636-9669 Molly.Griffith@cchmc.org | |
| Principal Investigator: Darcy Krueger, MD, PhD | |
| Cleveland Clinic | Recruiting |
| Cleveland, Ohio, United States, 44195 | |
| Contact: Beth Crouser 216-636-5535 crouseb@ccf.org | |
| Principal Investigator: Charis Eng, MD, PhD | |
| Study Chair: | Charis Eng, MD, PhD | The Cleveland Clinic |
| Responsible Party: | Mustafa Sahin, Assistant in NeurologyAssociate Professor of Neurology, Harvard Medical School, Boston Children's Hospital |
| ClinicalTrials.gov Identifier: | NCT02461446 |
| Other Study ID Numbers: |
P00013150 1U54NS092090-01 ( U.S. NIH Grant/Contract ) |
| First Posted: | June 3, 2015 Key Record Dates |
| Last Update Posted: | September 26, 2022 |
| Last Verified: | September 2022 |
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germline heterozygous PTEN mutations MRI 10q23.3 ASD Autism |
Macrocephaly PTEN Hamartoma Tumor Syndrome PTEN EEG |
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Hamartoma Neoplasms Hamartoma Syndrome, Multiple Megalencephaly Autistic Disorder Autism Spectrum Disorder Child Development Disorders, Pervasive Neurodevelopmental Disorders Mental Disorders Neoplasms, Multiple Primary |
Neoplastic Syndromes, Hereditary Genetic Diseases, Inborn Craniofacial Abnormalities Musculoskeletal Abnormalities Musculoskeletal Diseases Malformations of Cortical Development, Group I Malformations of Cortical Development Nervous System Malformations Nervous System Diseases Congenital Abnormalities |