Actively Recruiting
MEHMO Natural History and Biomarkers
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-04-27
150
Participants Needed
1
Research Sites
1558 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
MEHMO Natural History and Biomarkers
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Be at least 1 week old if affected by MEHMO syndrome or related condition
- Be at least 1 month old if unaffected
- For screening, have signs or symptoms suggestive of MEHMO syndrome with no or inconclusive molecular testing, or be a relative of someone with MEHMO syndrome/eIF2-related condition with informative genetics
- For main study, have signs or symptoms suggestive of MEHMO syndrome and have disease-associated or uncertain variant(s) in eIF2-pathway genes
- Or be a relative carrier of a pathogenic or likely pathogenic variant
- Or be a non-affected, non-carrier family member of someone with MEHMO syndrome or related condition
You will not qualify if you...
- Individuals unable to comply with the study protocol
- Individuals with medical conditions that may increase risks of participation, as judged by investigators
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
A
An N Dang Do, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here