Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- Quick motor function test (QMFT)
研究概览
简要总结
A monocentric, longitudinal, observational case-control study in patients with Myotonic Dystrophy type 2 (DM2). At least 60 DM2 will be evaluated through a battery of patients reported Outcomes (PROs) and clinical Outcome Measures (OMs), in order to define suitable OMs for DM2 and propose a disease specific severity scale. Patients will be re-evaluated after 6 months. An age and gender-matched control cohort will be assessed.
详细描述
Myotonic dystrophy type 2 (DM2) is an autosomal dominant, chronic progressive multisystemic disorder. Typical symptoms of DM2 include progressive proximal muscle weakness and wasting, often combined with axial and anterior neck muscles involvement, myotonia, muscular pain, fatigue and cataracts. The estimated prevalence is approximately 1 per 100,000 people, but in some nations as Germany the DM2 frequency is much higher than and close to 1.12.000. Compared to DM1 it has a relatively short history, as the genetic base and RNA pathogenesis have been clarified in 2003. In order to evaluate specific clinical aspects of DM2 and disease progression, the development and validation of ad-hoc tests is a unmet need in the neuromuscular field. Today, only a few outcome measures were used systematically in DM2 patients, and none of them provide so far a validation of a clinical meaningful difference for an interventional clinical trial.
The aims of this monocentric, observational, case-control study are:
- select and validate patient reported outcomes (PRO) and outcome measures (OM) in a large group of DM2 patient
- Propose a DM2-specific scale of disease severity
- collecting additional information regarding the phenotype and the progression of the disease;
- identify differences between subgroups (e.g. age, sex, years of disease).
Participants will be recruited from the German-Swiss Registry for Myotonic Dystrophy and the internal database of the Friedrich-Baur-Institute (FBI), Department of Neurology, Ludwig-Maximilian-University, Munich, Germany. A total of at least 60 male and female patients with no age limit and with genetically proven DM2 will be included. Forty age and gender-matched controls will be also assessed.
During the first evaluation of the DM2 and the controls group, the following PROs and OMs will be evaluated:
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 90 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Genetically confirmed myotonic dystrophy type 2
- •Able to provide informed consent
排除标准
- •Invalidating diseases not related with DM2 (e.g. Stroke).
- •Subject participating in another clinical trial (other than registries) concurrently or within 30 days prior to screening for entry into this study.
- •Unable to complete study questionnaires.
结局指标
主要结局
Quick motor function test (QMFT)
时间窗: 6 months
A test for assessing motor function.
DM1-ActivC
时间窗: 6 months
A Rasch-built DM1 activity and participation scale for clinical use
次要结局
- Myotonia (from Individualised Neuromuscular Quality of Life Questionnaire)(6 months)
- Scale for Assessment and Rating of Ataxia (SARA)(6 months)
- Berg balance scale (BBS)(6 months)
- Six-minute-walking test (6MWT)(6 months)
- Hand opening time(6 months)
- Pressure pain threshold (PPT)(6 months)
- Fatigue and Daytime Sleepiness Scale (FDSS)(6 months)
- GSGC(6 months)
- Functional Index-2 (only upper extremities)(6 months)
- Beck depression inventory (BDI-II)(6 months)
- Brief Pain Inventory Short-Form (BPI-sf)(6 months)
- Myotonia Behaviour scale (MBS)(6 months)
- R-PAct(6 months)
- McGill pain questionnaire (MPQ-sf)(6 months)
- Manual muscle testing (MMT)(6 months)
- Quantitative muscle testing (QMT)(6 months)
- 30 seconds sit to stand test (30CST)(6 months)
研究者
Prof. Dr. Benedikt Schoser
Neurologist, senior physician
LMU Klinikum