This study is currently recruiting participants.
Number
001681-CH
Sponsoring Institute
National Institute of Child Health and Human Development (NICHD)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 1 wk Max Age: 100 Years
Referral Letter Required
No
Population Exclusion(s)
None
Keywords
MEHMO; X-linked MEHMO Syndrome; eIF2-Pathway Related Conditions; EIF2S3
Recruitment Keyword(s)
Condition(s)
Intellectual Disability; Epilepsy; Hypogonadisms; Microcephaly; Nervous System Malformations; Obesity
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Institute of Child Health and Human Development
No current treatment for these conditions is available. A major impediment to the testing of potential therapeutic interventions is the lack of well-defined outcome measures. This protocol seeks to identify biochemical and clinical markers to monitor disease progression, and better understand the natural history of these conditions.
Any person diagnosed with MEHMO syndrome or related conditions, who can travel to the NIH Clinical Center can participate in this study.
The study involves:
-General health assessment and evaluation
-Imaging studies
-Laboratory tests
-Collection of blood, urine, spinal fluid, skin biopsy.
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Inclusion Criteria To be eligible to participate in this study, an individual must meet the following criteria: Be greater than or equal to 1-week of age if affected, or greater than or equal to 1-month of age if unaffected. 19 For Screening: Have a combination of signs/symptoms suggestive of MEHMO syndrome, AND no or inconclusive molecular testing. For Main Study 1. 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 2. Be a first-degree relative of an individual with EIF2S3-related MEHMO syndrome, AND a carrier of the pathogenic or likely pathogenic variant. OR 3. 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.
To be eligible to participate in this study, an individual must meet the following criteria:
Be greater than or equal to 1-week of age if affected, or greater than or equal to 1-month of age if unaffected.
19
For Screening:
Have a combination of signs/symptoms suggestive of MEHMO syndrome, AND no or inconclusive molecular testing.
For Main Study
1. 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
2. Be a first-degree relative of an individual with EIF2S3-related MEHMO syndrome, AND a carrier of the pathogenic or likely pathogenic variant.
3. 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.
Principal Investigator
Referral Contact
For more information: