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NCT06019182

MEHMO Natural History and Biomarkers

Recruiting now Last updated 23 February 2026
What this trial tests

trial in Intellectual Disability in 150 participants. Currently enrolling.

Timeline
23 October 2023
Primary endpoint
1 September 2053
1 September 2053

Quick facts

Lead sponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
StatusRecruiting now
Study typeOBSERVATIONAL
Enrollment150
Start date23 October 2023
Primary completion1 September 2053
Estimated completion1 September 2053
Sites1 location across United States

Conditions studied

Sponsor

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

Who can join

Adults 1 Week to 100, any sex, with Intellectual Disability or Epilepsy. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial.

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Other recruiting trials for Intellectual Disability

Currently open trials in the same condition.

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Data sources for this page

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