MEHMO Natural History and Biomarkers

Recruiting now

Conditions studied: Intellectual Disability, Epilepsy, Hypogonadisms, Microcephaly, Nervous System Malformations, Obesity

In brief

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.

Key facts

Study ID: NCT06019182
Run by: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
People needed: 150
Starts: 2023-10-23
Expected to finish: 2053-09-01
Last updated by the study team: 2026-06-25

Who can join

Age: 0 and older, up to 100. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

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.

Where it is running

National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.