Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 244
- 试验地点
- 1
- 主要终点
- Documentation of the clinical findings
研究概览
简要总结
The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this population clinically, biochemically and genetically. The investigators will prospectively follow patients from Canada, the US and internationally, and collect data from medical evaluations, blood, urine and imaging studies that would be performed on a clinical care basis. For patients who are unable to attend our clinic, we will collect all medical records and images since birth as well as subsequent records/images for the next 5 years or until the end of the study. Clinical data from medical records will be banked in our Peroxisomal Disorder Research Databank and Biobank. The investigators will use this information to identify standards of care and improve management.
详细描述
Participants have the option to be seen in consultation at the McGill University Health Centre in Montreal, Canada, on a yearly basis. This includes a consultation in Genetics, Nutrition, Neurology, and Ophthalmology (OCT and FAF exams). All medical records and images will be collected, retrospectively and prospectively, until the end of the study, and entered anonymously in a database. Biospecimens will be collected to identify new biomarkers. Candidate drugs will be evaluated for recovery of peroxisome functions in cultured fibroblasts.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of PBD or
- •Single peroxisome enzyme/protein defect with phenotype similar to PBD
排除标准
- •Not a PBD
- •Not a single peroxisome enzyme/protein defect with phenotype similar to PBD
结局指标
主要结局
Documentation of the clinical findings
时间窗: Yearly up to 10 years
Clinical findings include but are not limited to: life span, growth parameters, development, vision, hearing, neurological examinations, renal problems, adrenal function, skeletal problems, and any other system involvement.
次要结局
- Development of care management guideline resource for adolescents and adults with PBD-ZSD(Yearly up to 10 years)
- Scoring of fundus photography (OCT and FAF)(Yearly up to 10 years)
- Peroxisome function testing(Yearly up to 10 years)
- Frequency of various disease complications and identification of risk factors in the PBD population(Yearly up to 10 years)
- Development of leukodystrophy(Yearly up to 10 years)
- Genotype-phenotype correlation(Yearly up to 10 years)
研究者
Nancy Braverman
MD, M.Sc. Professor, Depts. of Human Genetics and Pediatrics
McGill University Health Centre/Research Institute of the McGill University Health Centre