MEHMO Natural History and Biomarkers

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Study ID
NCT06019182
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
1 Week - 100 Years
Healthy Volunteers
Not accepted

Study Details

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 Dates

Start date
Oct 23, 2023
Status verified
Apr 2026
Primary completion
Sep 1, 2053
Completion
Sep 1, 2053

Study Design

Enrollment
150 participants (estimated)

Arms

  • Arm: Affected
    Individuals who have MEHMO syndrome or eIF2-pathway related conditions 1-week of age or older.
  • Arm: Carrier
    EIF2S3-variant carrier individuals 1-month of age or older.
  • Arm: Unaffected Non-carrier
    Unaffected individuals 1 month of age or older who are 1st degree relative of an affected individual

Primary Outcome Measure

Characterize the presentation of MEHMO syndrome and eIF2-pathway related conditions. [ Time Frame: Ongoing ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
An Dang Do, M.D.
[email protected]
301-496-8849

Find similar trials in Bethesda, MD

By condition
EpilepsyObesity / overweight
By specialty
NeurologyBrain disordersEndocrinologyMetabolic healthWeight loss
By research site
National Institutes of Health Clinical Center· Bethesda, MD

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