MEHMO Natural History and Biomarkers

Launched by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT (NICHD) · Aug 30, 2023

Keywords

ClinConnect Summary

The MEHMO Natural History and Biomarkers study is looking at a group of conditions known as MEHMO syndrome, which includes issues like intellectual disability, seizures, hormone imbalances, and obesity. This study aims to learn more about how these conditions progress over time and to find helpful markers that can be used to measure changes in health. Since there are no current treatments available for these conditions, understanding them better can help in developing future therapies.

If you or your child have been diagnosed with MEHMO syndrome or a related condition, and can travel to the NIH Clinical Center, you might be eligible to participate. To qualify, individuals should be at least 1 week old and show signs of MEHMO syndrome or have a family member with it. Participants will undergo health assessments, imaging studies, and various lab tests, including blood and urine samples. This study is important as it will help researchers gather valuable information that could lead to better treatment options in the future.

Gender

ALL

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.