A Systems-based Approach to Patient-focused Rare Disease Research and Product Development
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 21
- 试验地点
- 1
- 主要终点
- Change in Gross Motor Function Classification System - Metachromatic Leukodystrophy (GMFC-MLD)
研究概览
简要总结
The primary aims of the HOME Study are to:
- Design and implement a natural history study for metachromatic leukodystrophy to serve as a source of external control data, to augment or replace concurrent controls in clinical trials;
- Pilot test and develop guidance on how to design, conduct, and analyze the data from a natural history study to support adaptive trial designs for regulatory use;
- Reduce burden of participation in trials and provide a potential solution to patient recruitment challenges, particularly for RCT's; and
- Design approaches that support remote participation in studies.
详细描述
The HOME Study is a web-based natural history study for patients with metachromatic leukodystrophy. It is hosted by the National Organization for Rare Disorders (NORD); an independent non-profit patient advocacy organization dedicated to individuals with rare diseases and the organizations who serve them.
The study collects information from participants (or their authorized respondents, heretofore referred to collectively as "participants") who are affected by metachromatic leukodystrophy.
Data are collected at pre-baseline, baseline, 3, 6, 9, and 12 months through online surveys, telephone Interviews, web-based virtual assessments with a clinical study coordinator, and a (optional - only for U.S. residents) mobile application. Data entered into this study includes name, date of birth, diagnosis, treatments, medical history, family history, quality of life, disease progression, treatment - past and proposed, general medical information, genetic test results and mutations, blood level results, upload of medical records.
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
- •The study is open to English speaking individuals of all ages who have a diagnosis consistent with metachromatic leukodystrophy (MLD). MLD is defined as:
- •Mutations in the ASA and PSAP genes identified by genetic testing;
- •A diagnosis of MLD by MRI of the brain; or
- •Sulfatase enzyme activity and urinary sulfatide excretion identified by biochemical testing.
排除标准
- •Patients will be excluded from the study if they do not meet inclusion criteria.
- •Non-English speaking individuals
- •No confirmed diagnosis of metachromatic leukodystrophy.
结局指标
主要结局
Change in Gross Motor Function Classification System - Metachromatic Leukodystrophy (GMFC-MLD)
时间窗: Baseline, 3, 6, 9, 12 months
The GMFC-MLD consists of seven levels and is applicable from the age of 18 months. It represents all clinically relevant stages from normal (level 0) to loss of all gross motor function (level 6).
次要结局
- Change in Expressive Language Function Classification - Metachromatic Leukodystrophy (ELFC-MLD)(Baseline, 3, 6, 9, 12 months)
- Change in WHO Motor Milestone(Baseline, 3, 6, 9, 12 months)
研究者
Aliza Fink
Director of Research Programs
National Organization for Rare Disorders