Recruiting

Observational Study

Sponsor:

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

Code:

NCT06019182

Conditions

Intellectual Disability

Epilepsy

Hypogonadisms

Microcephaly

Nervous System Malformations

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief 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

Study ID

NCT06019182

Start date

Oct 23, 2023

Status verified date

Jun 23, 2026

Completion date

Sep 1, 2053

Anticipated

Primary completion date

Sep 1, 2053

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • INCLUSION CRITERIA:

To be eligible to participate in this study, an individual must meet the following criteria:

Be >= 1-week of age if affected, or >=1-month of age if unaffected.

For Screening:

1. Have a combination of signs/symptoms suggestive of MEHMO syndrome,

AND

no or inconclusive molecular testing.

OR
2. Be a relative of an individual with MEHMO syndrome/eIF2-related condition and whose genetic may be informative for research.

For Main Study:

1. Have a combination of signs/symptoms suggestive of MEHMO syndrome,

AND

disease-associated variant(s) or variant(s) of uncertain significance in one of the eIF2-pathway related genes

OR
2. Be a relative of an individual with MEHMO syndrome/eIF2-related condition, AND a carrier of the pathogenic or likely pathogenic variant.

OR
3. Be a non-affected, non-carrier family member of an individual with MEHMO syndrome or an eIF2-pathway related condition.

EXCLUSION CRITERIA:

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.

Study Design

Enrollment

150 participants

Anticipated

Interventions and Outcome Measures

Arms

Affected

Individuals who have MEHMO syndrome or eIF2-pathway related conditions 1-week of age or older.

Carrier

EIF2S3-variant carrier individuals 1-month of age or older.

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 and Locations

Central contacts

An N Dang Do, M.D.

(301) 496-8849an.dangdo@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

An Dang Do, M.D.

301-496-8849an.dangdo@nih.gov

More Information

Sponsor

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

Last update posted

Jun 25, 2026

Last verified

Jun 23, 2026

Keywords

  • MEHMO
  • X-linked MEHMO Syndrome
  • eIF2-Pathway Related Conditions
  • EIF2S3

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) on 2026-06-25.