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Minor6 versionsRe-verified since Jul 16, 2025, no change to tracked fieldsv208-v213
MinorStudy description shortened, about 44 wordsv207
Minor2 versionsRe-verified since Apr 3, 2025, no change to tracked fieldsv205-v206
MinorStart date: Apr 24, 2024 to Oct 23, 2023v204
Minor2 versionsRe-verified since Dec 27, 2024, no change to tracked fieldsv202-v203
Show 38 earlier versionsHide 38 earlier versions
MinorEligibility criteria expanded, about 7 wordsv201
Minor2 versionsRe-verified since Jul 26, 2024, no change to tracked fieldsv199-v200
MinorStart date changed from estimate of Jul 30, 2024 to Apr 24, 2024v198
MinorStart date: Jul 29, 2024 to Jul 30, 2024v197
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MinorStart date: Jul 9, 2024 to Jul 11, 2024v185
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MinorStart date: Jul 4, 2024 to Jul 7, 2024v182
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MinorStart date: Jun 10, 2024 to Jun 11, 2024v166
MinorStart date: Jun 9, 2024 to Jun 10, 2024v165
MinorStart date: Jun 6, 2024 to Jun 9, 2024v164
Stopped: an ongoing trial was terminated, suspended or withdrawn.
Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
Minor: routine progress and housekeeping, such as sites added or enrollment closed.
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.