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MEHMO Natural History and Biomarkers

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

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
1 Week to 100 Years
Sex
All sexes
Healthy volunteers
Not accepted
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

  • Procedures mentioned: Biopsies

Only what the study's summary and detailed description on ClinicalTrials.gov say. Time periods may describe the whole study or a part of it — ask the study team what applies to you.

Show the study's own words
  • "The study involves: * General health assessment and evaluation * Imaging studies * Laboratory tests * Collection of blood, urine, spinal fluid, skin biopsy."
Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

In plain language

This study follows people with MEHMO syndrome or a related eIF2 disorder, and some family members. It looks for signs in exams and lab tests that help track how these conditions change over time; it does not test a treatment. Study visits include health exams, imaging, lab tests, and samples of blood, urine, spinal fluid, and skin.

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.

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Who can join

  • People with the condition must be at least 1 week old. People without it must be at least 1 month old.
  • You must be able to travel to the NIH Clinical Center.
  • For screening, you must have signs of MEHMO syndrome and either no genetic testing or unclear test results; or be a relative whose genetic information may help the research.
  • For the main study, you must meet one of the following three conditions.
  • You have signs of MEHMO syndrome and a change in an eIF2-related gene that is linked to disease or has an unclear effect.
  • You are a relative of someone with MEHMO or an eIF2-related condition and carry a gene change known or likely to cause the condition.
  • You are a family member of someone with MEHMO or an eIF2-related condition, but do not have the condition or carry the gene change.

Who can't join

  • The study team believes you cannot follow the study requirements.
  • The study team believes a medical condition could make taking part more risky for you.

Simplified for readability. The official criteria below are what the study team uses.

Official 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: 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 sites (1)

MD