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MEHMO Natural History and Biomarkers

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

Who can join

1 Week – 100 Years · All sexes

* 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.

About the study

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.

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Participants: 150 · Started: Oct 23, 2023

Contact the study team

• An N Dang Do, M.D. · Phone: (301) 496-8849

Official record on ClinicalTrials.gov — NCT06019182

Locations in the U.S.

Conditions

• Intellectual Disability
• Epilepsy
• Obesity

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.