Status:
RECRUITING
MEHMO Natural History and Biomarkers
Lead Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions:
Intellectual Disability
Epilepsy
Eligibility:
All Genders
1-100 years
Brief Summary
This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway re...
Detailed Description
Study Description: This is a prospective natural history study of individuals who have MEHMO syndrome or eIF2-pathway related conditions, or who are carriers of EIF2S3-related conditions to generate h...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- To be eligible to participate in this study, an individual must meet the following criteria:
- Be \>= 1-week of age if affected, or \>=1-month of age if unaffected.
- For Screening:
- Have a combination of signs/symptoms suggestive of MEHMO syndrome,
- AND
- no or inconclusive molecular testing.
- OR
- Be a relative of an individual with MEHMO syndrome/eIF2-related condition and whose genetic may be informative for research.
- For Main Study:
- Have a combination of signs/symptoms suggestive of MEHMO syndrome,
- AND
- disease-associated variant(s) or variant(s) of uncertain significance in one of the eIF2-pathway related genes
- OR
- Be a relative of an individual with MEHMO syndrome/eIF2-related condition, AND a carrier of the pathogenic or likely pathogenic variant.
- OR
- Be a non-affected, non-carrier family member of an individual with MEHMO syndrome or an eIF2-pathway related condition.
- EXCLUSION CRITERIA:
- Any individual who, in the opinion of the Investigators, is unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation will be excluded from participation in this study.
Exclusion
Key Trial Info
Start Date :
October 23 2023
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 1 2053
Estimated Enrollment :
150 Patients enrolled
Trial Details
Trial ID
NCT06019182
Start Date
October 23 2023
End Date
September 1 2053
Last Update
August 1 2025
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892