MEHMO Natural History and Biomarkers
Recruiting
Observational Study
Intellectual Disability
Epilepsy
Hypogonadisms
Microcephaly
Nervous System Malformations
Obesity
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 1 Week – 100
- Sex
- Any
- Study type
- Observational
- Participants needed
- 150 (estimated)
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · NIH
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About This Trial
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 …
Trial Locations
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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 inconclu…
Contacts