A Natural History Study of Surfeit Locus Protein 1 (SURF1)-Associated Leigh Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 试验地点
- 1
- 主要终点
- Change from baseline in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS)
研究概览
简要总结
The purpose of the study is to prospectively and systematically collect standardized clinical information, to describe important features of the disease course of SURF1 deficiency. These include but are not limited to symptomatology, clinical course, and risk factors for severe disease and complications.
详细描述
Participant eligibility for the study will be determined during a screening period lasting up to 45 days. In-clinic follow visits will occur over several days every 6 months for 2 years from baseline. Thereafter, annual telephone follow-up contact will be conducted for 2 additional years. Thus, the active study duration for each participant will be up to approximately 2 years and the total duration per participant will be approximately 4 years.
The study will be conducted in the United States and select sites outside the United States based on incidence data.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Informed consent/assent provided by the participant based on participant's cognitive ability as determined by Principal Investigator (PI), and/or participant's parent(s) or legally authorized representative(s).
- •Participant is < 18 years of age at time of initial informed consent.
- •Displays one or more clinical features consistent with SURF1 deficiency, including but not limited to, hypotonia, motor delays, motor regression, failure to thrive, language delays, and/or language regression.
- •Genetic diagnosis of SURF1 pathogenic or likely pathogenic mutation(s), either compound heterozygous or homozygous mutations. If variants are of uncertain significance (VUS), verify documentation of cytochrome c oxidase (COX) activity deficiency.
- •Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
排除标准
- •Any known genetic abnormality (other than SURF1 deficiency), including but not limited to a chromosomal aberration or molecularly known or clinically suspected progressive neurometabolic disorder or dementia, that confounds the clinical phenotype.
- •The presence of significant non-SURF1-related central nervous system (CNS) impairment/behavioral disturbances that would confound the scientific rigor or interpretation of results of the study or a known history of perinatal asphyxia, kernicterus, carbon monoxide or methanol intoxication.
- •Current participation in a therapeutic study or participation in a therapeutic study within 30 days prior to enrollment in the present study.
- •Prior or current treatment with gene or stem cell therapy.
- •Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures.
结局指标
主要结局
Change from baseline in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS)
时间窗: From baseline until follow-up (up to 24 months/early termination)
The NPMDS is scored by section (domain), and the final (total) score is the sum of all section scores. Function is rated over preceding 4-week period, according to participant and/or caregiver. NPMDS is subdivided by patient age (0-24 months, 2-11 years, and 12-18 years).
次要结局
- Change from baseline in Head Control Scale(From baseline until follow-up (up to 24 months/early termination))
- Change from baseline in Gross Motor Function Measure (GMFM)(From baseline until follow-up (up to 24 months/early termination))
- Change from baseline in Vineland Adaptive Behavior Scales Third Edition (Vineland-3)(From baseline until follow-up (up to 24 months/early termination))