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.
Plain-language title generated from the registry record
Registry title: MEHMO Natural History and Biomarkers
Key facts
- Where
- Bethesda, United StatesSee the site
Where in United States
- National Institutes of Health Clinical CenterBethesda, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Trial code
- NCT06019182
- Record updated
- 25 June 2026
- Original description
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
Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions
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.
Exclusion: 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.
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.