Observational study on MEHMO syndrome and related conditions

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational natural history study follows individuals diagnosed with MEHMO syndrome or eIF2-pathway related disorders to better understand their clinical presentation and disease progression. Participants will undergo general health assessments, imaging studies, and laboratory tests, including the collection of various biological samples. The study aims to identify biomarkers and develop a disease severity rating scale, ultimately establishing a repository of data and samples for future research. By longitudinally following affected individuals and their relatives, the study seeks to generate hypotheses for improved diagnosis and management of these conditions.

Why it matters

Who can join: the full rules

* 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.

Where it's running

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

Study contacts

• Principal investigator: An N Dang Do, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Study coordinator: An N Dang Do, M.D.
• Email: an.dangdo@nih.gov
• Phone: (301) 496-8849

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.