Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Summary
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.
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 Object…
Eligibility
- Age range
- 0–100 years
- Sex
- All
- Healthy volunteers
- No
* 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(…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland