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RECRUITINGOBSERVATIONAL

MEHMO Natural History and Biomarkers

Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have symptoms such as intellectual delay, seizures, abnormal hormone and blood sugar levels, and decreased motor skills. 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.

Who May Be Eligible (Plain English)

* Who May Qualify: 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: 1. Have a combination of signs/symptoms suggestive of MEHMO syndrome, AND no or inconclusive molecular testing. OR 2. Be a relative of an individual with MEHMO syndrome/eIF2-related condition and whose genetic may be informative for research. 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 relative of an individual with MEHMO syndrome/eIF2-related condition, 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. Who Should NOT Join This Trial: 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. Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
* 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: 1. Have a combination of signs/symptoms suggestive of MEHMO syndrome, AND no or inconclusive molecular testing. OR 2. Be a relative of an individual with MEHMO syndrome/eIF2-related condition and whose genetic may be informative for research. 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 relative of an individual with MEHMO syndrome/eIF2-related condition, 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.

Locations (1)

National Institutes of Health Clinical Center
Bethesda, Maryland, United States