NGLY1 Deficiency: A Prospective Natural History Study
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 29
- 试验地点
- 1
- 主要终点
- Detailed phenotyping of the clinical course of NGLY1 deficiency over time
研究概览
简要总结
NGLY1 deficiency is a rare genetic disorder that is characterized by: global developmental delay and/or intellectual disability, hypo- or alacrima, transient elevation of transaminases, and a hyperkinetic movement disorder. Significant phenotypic variability has been observed in the small number of affected individuals described in the medical literature.
The purpose of this study is to describe the natural history of NGLY1 deficiency in a prospective, detailed, and highly uniform manner. Study participants will be closely monitored over the course of five years in order to:
- understand the clinical spectrum and progression of NGLY1 deficiency using standardized clinical and neurodevelopmental assessments
- identify clinical and biomarker endpoints for use in therapeutic trials, and
- identify genotype-phenotype correlations
Close clinical follow-up will allow for generation of a rich dataset and detailed understanding of the natural history of NGLY1 deficiency.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Parent(s)/legal representative and/or participant must be willing and able to give informed consent/assent for participation in the study
- •Males or females of any age
- •Suspected or confirmed diagnosis of NGLY1 deficiency with genetic variants in both NGLY1 alleles and consistent clinical characteristics
- •Participant and caregiver must be willing to provide clinical data, participate in standardized assessments, and provide biological samples (if living in the United States)
- •Willingness to travel to Palo Alto, CA is favored, but not required
排除标准
- •The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of NGLY1 deficiency
结局指标
主要结局
Detailed phenotyping of the clinical course of NGLY1 deficiency over time
时间窗: 5 years
Conducted in patients with NGLY1 deficiency: detailed standardized general, neurologic, dysmorphologic, and ophthalmologic evaluations; clinical laboratory studies; electroencephalogram; nerve conduction studies; quantitative studies of autonomic function; scoring of movement disorder and NGLY1 deficiency symptom scales; and a timed 10-meter walk test. As much information as available will also be collected from existing medical records including clinical evaluations, imaging studies and neuropsychological and motor function evaluations.
Neurodevelopmental profile of NGLY1 deficiency as measured using Mullen Scales of Early Learning
时间窗: 5 years
Developmental assessment at baseline and longitudinally, if age and ability-appropriate.
Neurodevelopmental profile of NGLY1 deficiency as measured using Bruininks-Oseretsky Test of Motor Proficiency, Second Edition
时间窗: 5 years
Developmental assessment at baseline and longitudinally, if age and ability-appropriate.
Neurodevelopmental profile of NGLY1 deficiency as measured using the Peabody Scales of Motor Development
时间窗: 5 years
Developmental assessment at baseline and longitudinally, if age and ability-appropriate.
Neurodevelopmental profile of NGLY1 deficiency as measured using the Differential Ability Scales II
时间窗: 5 years
Developmental assessment at baseline and longitudinally, if age and ability-appropriate.
Neurodevelopmental profile of NGLY1 deficiency as measured using the Beery Visual Motor Integration developmental test
时间窗: 5 years
Developmental assessment at baseline and longitudinally, if age and ability-appropriate.
次要结局
- Biomarkers for NGLY1 deficiency identified during the course of the study(5 years)
- Participant quality of life as measured through the Pediatric Quality of Life Inventory (PedsQL)(5 years)
- Caregiver quality of life as measured through the 36 Item Short Form Survey (SF36)(5 years)
研究者
Maura Ruzhnikov
Clinical Assistant Professor
Stanford University