Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 150
- 试验地点
- 1
- 主要终点
- Characterize the presentation of MEHMO syndrome and eIF2-pathway related conditions.
研究概览
简要总结
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.
详细描述
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 Objective:
Characterize the presentation of MEHMO syndrome and eIF2 pathway related conditions.
Secondary Objectives:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 1 Week 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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:
- •Have a combination of signs/symptoms suggestive of MEHMO syndrome,
- •no or inconclusive molecular testing.
- •Be a relative of an individual with MEHMO syndrome/eIF2-related condition and whose genetic may be informative for research.
- •For Main Study:
- •Have a combination of signs/symptoms suggestive of MEHMO syndrome,
- •disease-associated variant(s) or variant(s) of uncertain significance in one of the eIF2-pathway related genes
- •Be a relative of an individual with MEHMO syndrome/eIF2-related condition, AND a carrier of the pathogenic or likely pathogenic variant.
- •Be a non-affected, non-carrier family member of an individual with MEHMO syndrome or an eIF2-pathway related condition.
排除标准
- •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.
研究组 & 干预措施
Affected
Individuals who have MEHMO syndrome or eIF2-pathway related conditions 1-week of age or older.
Carrier
EIF2S3-variant carrier individuals 1-month of age or older.
Unaffected Non-carrier
Unaffected individuals 1 month of age or older who are 1st degree relative of an affected individual
结局指标
主要结局
Characterize the presentation of MEHMO syndrome and eIF2-pathway related conditions.
时间窗: Ongoing
Frequency and time-to-event of signs and symptoms. These will allow systematic and potentially quantitative measures of disease presentation that can then be operationalized to develop disease rating scale(s) and correlative measures for candidate biomarkers.
次要结局
- Characterize EIF2S3-carrier phenotype.(Ongoing)
- Assess tolerability and feasibility of study evaluations.(Ongoing)
- Establish a repository of participant data and samples for future research.(Ongoing)
- Identify disease-reflective fluid biomarkers(Ongoing)
- Develop a disease severity rating scale or classification algorithm.(Ongoing)