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Recruiting NCT06019182

MEHMO Natural History and Biomarkers

— Observational Intellectual Disability Epilepsy Hypogonadisms Microcephaly

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Intellectual Disability, Epilepsy, Hypogonadisms, Microcephaly. Basic parameters: 1 Week — 100 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Official title

Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions

Overview

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.

Detailed description

Study Description: This is a prospective natural history study of individuals who have MEHMO syndrome or eIF2-pathway related conditions, or who are carriers of EIF2S3-related conditions to generate hypotheses for further understanding of disease pathophysiology, diagnosis, prognosis, management, and treatment. The protocol aims to enroll and follow affected or carrier individuals longitudinally to establish a repository of concurrent evaluations and biomaterials, as well as to enroll unaffected individuals for collection of informative comparable data and samples.

Objectives:

Primary Objective:

Characterize the presentation of MEHMO syndrome and eIF2 pathway related conditions.

Secondary Objectives:

1. Identify disease-reflective fluid biomarkers 2. Develop a disease severity rating scale or classification algorithm 3. Assess tolerability and feasibility of study evaluations 4. Establish a repository of participant data and samples for future research

Endpoints:

Primary Endpoint:

Frequency and time-to-event of signs and symptoms.

Secondary Endpoints:

1. Mean difference of candidate fluid biomarkers level in affected versus carrier versus unaffected individuals 2. Correlation of rating scale or classification algorithm to age, genotype, or other variables 3. Frequency of completed evaluations and reasons for noncompletion

Primary outcome measures

  • Characterize the presentation of MEHMO syndrome and eIF2-pathway related conditions. [Time frame: Ongoing]
Secondary outcome measures (5)
  • Identify disease-reflective fluid biomarkers [Time frame: Ongoing]
  • Develop a disease severity rating scale or classification algorithm. [Time frame: Ongoing]
  • Assess tolerability and feasibility of study evaluations. [Time frame: Ongoing]
  • Characterize EIF2S3-carrier phenotype. [Time frame: Ongoing]
  • Establish a repository of participant data and samples for future research. [Time frame: Ongoing]

Eligibility criteria

  • 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:

  • Have a combination of signs/symptoms suggestive of MEHMO syndrome,

AND

no or inconclusive molecular testing.

OR

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

For Main Study:

  • 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

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

OR

  • 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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 1 center
  • National Institutes of Health Clinical Center — Bethesda

Identifiers

NCT: NCT06019182 · 10001681 · 001681-CH

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗