MEHMO Natural History and Biomarkers
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.
Conditions:
🦠 Intellectual Disability
🦠 Epilepsy
🦠 Hypogonadisms
🦠 Microcephaly
🦠 Nervous System Malformations
🦠 Obesity
🗓️ Study Start (Actual)
24 April 2024
🗓️ Primary Completion (Estimated)
1 September 2053
✅ Study Completion (Estimated)
1 September 2053
👥 Enrollment (Estimated)
150
🔬 Study Type
OBSERVATIONAL
📊 Phase
N/A
Locations:
📍
Bethesda, Maryland, United States
Description
- * Inclusion Criteria
- To be eligible to participate in this study, an individual must meet the following criteria:
- Be greater than or equal to 1-week of age if affected, or greater than or equal to 1-month of age if unaffected.
- 19
- For Screening:
- Have a combination of signs/symptoms suggestive of MEHMO syndrome, AND no or inconclusive molecular testing.
- 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 first-degree relative of an individual with EIF2S3-related MEHMO syndrome, 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.
Ages Eligible for Study:
1 Week to 100 Years (CHILD, ADULT, OLDER_ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers:
No
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported
results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before
being posted on the public website.
Study Registration Dates
- First Submitted
30 August 2023
- First Submitted that Met QC Criteria
30 August 2023
- First Posted
31 August 2023
Study Record Updates
- Last Update Submitted that Met QC Criteria
26 July 2024
- Last Update Posted
29 July 2024
- Last Verified
25 July 2024