Observational study on MEHMO syndrome and related conditions

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

This study follows people with MEHMO syndrome and related disorders to see how the conditions develop over time and to find better ways to diagnose and manage them.

Quick facts

• Study type: Observational
• Enrollment: 150 (estimated)
• Ages: 1 Week to 100 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT06019182 on ClinicalTrials.gov

What this trial studies

This observational natural history study follows individuals diagnosed with MEHMO syndrome or eIF2-pathway related disorders to better understand their clinical presentation and disease progression. Participants will undergo general health assessments, imaging studies, and laboratory tests, including the collection of various biological samples. The study aims to identify biomarkers and develop a disease severity rating scale, ultimately establishing a repository of data and samples for future research. By longitudinally following affected individuals and their relatives, the study seeks to generate hypotheses for improved diagnosis and management of these conditions.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 1 week or older with symptoms suggestive of MEHMO syndrome or eIF2-pathway related conditions, as well as their relatives.

Not a fit: Patients who do not exhibit symptoms of MEHMO syndrome or related conditions, or those with conclusive molecular testing, may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better understanding and monitoring of MEHMO syndrome and related conditions, paving the way for future therapeutic interventions.

How similar studies have performed: While this study focuses on a specific syndrome, similar observational studies have successfully identified biomarkers and improved understanding of rare genetic conditions.

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.

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)

Study contacts

• Principal investigator: An N Dang Do, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Study coordinator: An N Dang Do, M.D.

Conditions Intellectual Disability; Epilepsy; Hypogonadisms; Microcephaly; Nervous System Malformations; Obesity; MEHMO; X-linked MEHMO Syndrome