MedTrace Logo

MEHMO Natural History and Biomarkers

NCT06019182 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 150

Last updated 2026-04-27

No results posted yet for this study

Summary

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

  • Intellectual Disability
  • Epilepsy
  • Hypogonadisms
  • Microcephaly
  • Nervous System Malformations
  • Obesity

Sponsors & Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

    lead NIH

Principal Investigators

  • An N Dang Do, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Min Age
1 Week
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-10-23
Primary Completion
2053-09-01
Completion
2053-09-01

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06019182 on ClinicalTrials.gov