MEHMO Natural History and Biomarkers

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.

NCT Number	NCT06019182
Lead Sponsor	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions	Intellectual Disability, Epilepsy, Hypogonadisms, Microcephaly, Nervous System Malformations, Obesity
Enrollment	150 participants
Start Date	2023-10-23
Primary Completion	2053-09-01 (estimated)
Study Completion	2053-09-01 (estimated)
Updated on ClinicalTrials.gov	2026-06-25