Actively Recruiting
Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions
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
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying individuals with MEHMO syndrome or related eIF2-pathway conditions, which involve symptoms such as intellectual disability, seizures, hormone and blood sugar irregularities, and reduced motor skills. This observational natural history study aims to better understand these rare conditions by identifying clinical and biochemical markers to track disease progression and to improve knowledge about their course and impact. Participants include those diagnosed with MEHMO syndrome or related disorders, carriers of EIF2S3-related variants, and unaffected family members. The study involves regular health assessments, imaging tests, laboratory evaluations, and collection of biological samples including blood, urine, spinal fluid, and skin biopsies. It follows individuals over time to gather comprehensive data and biological materials. During the study, participants will undergo evaluations of their general health and disease symptoms, imaging exams, and various laboratory tests. Researchers will monitor clinical signs and fluid biomarkers to develop a severity rating scale and classification system. The study also aims to build a repository of data and samples for future research. This observational study does not involve any treatment but focuses on detailed monitoring to support future therapeutic development.
CONDITIONS
Brief 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, or at least 1 month old if unaffected
- Have signs or symptoms suggestive of MEHMO syndrome with relevant genetic variants, or be a carrier of pathogenic variants related to eIF2-pathway genes
- Be a non-affected, non-carrier family member of someone with MEHMO syndrome or related condition
- Be able to comply with study procedures and evaluations
- Willing to travel to the NIH Clinical Center for study visits
You will not qualify if you...
- Unable to comply with the study protocol as judged by investigators
- Medical conditions that may increase risk during study participation as determined by investigators
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Ongoing throughout study participation
Participants undergo evaluations to characterize the presentation of MEHMO syndrome and eIF2 pathway related conditions, including collection of data and biomaterials.
Initial visit and periodic follow-up visits as scheduled
Duration - Up to 30 years
Participants are followed longitudinally to assess disease progression, biomarker levels, and to contribute data and samples for future research.
Periodic visits over the course of the study duration
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.
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
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