Clinical trial

MEHMO Natural History and Biomarkers

Recruiting now · Not applicable · 1 countries · Registry ID NCT06019182

Recruiting nowNot applicableObservational

What this study is about

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.

A promising-looking record is not the same as confirmed eligibility. The study team must review the full criteria and current recruitment status.

Basic eligibility

Age1 Week to 100 Years

SexAll

Healthy volunteersNot accepted

ConditionIntellectual Disability, Epilepsy, Hypogonadisms, Microcephaly, Nervous System Malformations, Obesity

Full registry 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.

Treatments and study arms

The registry does not list a named intervention.

Primary outcomes

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

Frequency and time-to-event of signs and symptoms. These will allow systematic and potentially quantitative measures of disease presentation that can then be operationalized to develop disease rating scale(s) and correlative measures for candidate biomarkers.

Study locations

1 locations were listed when this page was built. The first 40 are shown.

National Institutes of Health Clinical Center🇺🇸 Bethesda, Maryland, United States

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An Dang Do, M.D.Contact

Email · Call 301-496-8849