NCT06019182Recruiting
MEHMO Natural History and Biomarkers
Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions
Source: ClinicalTrials.gov · Last updated 25 Jun 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 150 (estimated)
- First submitted
- 30 Aug 2023
- Start date
- 23 Oct 2023
- Primary completion date
- 1 Sept 2053
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NCT number
- NCT06019182
What you commit to
- Study type: Observational
- Planned participants: 150
- From 23 Oct 2023 to the primary completion date, 1 Sept 2053
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- 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.
Criteria the registry did not label
- 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.
Age in the registry: 1 week to 100 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| National Institutes of Health Clinical Center Coordinator of this site? Confirm its status | Bethesda | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.