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Follows people with MEHMO syndrome to track their condition over time

Observes people with MEHMO syndrome or related conditions, through tests and samples, to learn progression.

Key facts

Who runs it
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Where
Bethesda, United StatesSee the site
Trial code
Registry title
MEHMO Natural History and Biomarkers
Status
Recruiting
People taking part
150 people, planned
Started
23 Oct 2023
Expected to end
1 Sept 2053
Type of study
Observational, 3 groups
Record updated
25 June 2026

Who can take part

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for people with MEHMO syndrome or a related eIF2-pathway condition, and for some of their relatives. It follows them over time to understand the disease.

Age
From 1 week of age for affected people, or from 1 month of age for unaffected people, up to 100 Years.
Sex
All sexes can join.
Disease stage
Signs and symptoms suggestive of MEHMO syndrome, or an eIF2-pathway related condition.
Biomarker or test result
For the main study: a disease-associated variant or a variant of uncertain significance in an eIF2-pathway related gene. Relatives can join as carriers of a pathogenic or likely pathogenic variant, or as non-affected, non-carrier family members.

Main reasons for not taking part

  • People who, in the investigators' opinion, cannot comply with the study
  • People with medical conditions that could increase the risk of taking part

The registry criteria, word for word

Show all 7 criteriaShow less

Who cannot take part

  • 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

Other criteria

  • 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

Where in United States

  • National Institutes of Health Clinical CenterBethesda, United StatesContact: An Dang Do, M.D.Taking people

About the trial

What the trial wants to find out

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.

Read full original descriptionShow less

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.

The 3 groups in the trial

  • Affected

    Individuals who have MEHMO syndrome or eIF2-pathway related conditions 1-week of age or older.

  • Carrier

    EIF2S3-variant carrier individuals 1-month of age or older.

  • Unaffected Non-carrier

    Unaffected individuals 1 month of age or older who are 1st degree relative of an affected individual

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

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Data and sources

Registry record
Listed on ClinicalTrials.gov.
Official title
Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions
Plain-language title
Follows people with MEHMO syndrome to track their condition over timeGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 12 November 2026.
Record updated
25 June 2026