| NCT ID | NCT06019182 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
| Condition | Intellectual Disability |
| Study Type | OBSERVATIONAL |
| Enrollment | 150 participants |
| Start Date | 2023-10-23 |
| Primary Completion | 2053-09-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 150 participants in total. It began in 2023-10-23 with a primary completion date of 2053-09-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
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 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.
Contact & Investigator
An N Dang Do, M.D.
PRINCIPAL INVESTIGATOR
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Frequently Asked Questions
Who can join the NCT06019182 clinical trial?
This trial is open to participants of all sexes, aged 1 Week or older, up to 100 Years, studying Intellectual Disability. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06019182 currently recruiting?
Yes, NCT06019182 is actively recruiting participants. Contact the research team at an.dangdo@nih.gov for enrollment information.
Where is the NCT06019182 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT06019182 clinical trial?
NCT06019182 is sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The principal investigator is An N Dang Do, M.D. at Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The trial plans to enroll 150 participants.