Creación de un Nodo Integral Para la Distrofia Miotónica Tipo 1 en España: Registro clínico, Mapas genómicos, epigenómicos y proteómicos (DM1-Hub)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 3,000
- 试验地点
- 1
- 主要终点
- Genomic Caracterization
研究概览
简要总结
Myotonic Dystrophy Type 1 (DM1) is a rare genetic neuromuscular condition that can affect multiple organs and varies widely in how it presents. DM1 is the most common form of adult-onset muscular dystrophy, with an estimated prevalence of approximately 1-5 per 10,000 people. In Spain, the condition shows notable regional differences, making it especially important to understand its characteristics within the population.
The aim of this study is to support a research initiative designed to better characterise DM1. We are developing a comprehensive national registry, collecting patient-reported information, clinical data and omics data that will improve our understanding of the disease and help identify individuals who may be eligible for clinical trials.
详细描述
The DM1-Hub Patient Registry (https://www.dm1spain.com/) aims to recruit individuals living in Spain with a confirmed genetic diagnosis of myotonic dystrophy type 1 (DM1). Participants may be referred by healthcare professionals or patient organizations. They may also learn about the registry through outreach activities, informational materials, collaborations with national and local patient associations, DM1-Hub events, or through their own online searches.
After completing the informed consent process with their neurologist, participants are connected with the DM1-Hub patient support staff assigned to their hospital. An appointment is scheduled, and all the data collected is entered into the REDCap database.
The objective of this study is to establish a Natural History Patient Registry for individuals with DM1 in Spain. Participants will be invited to take part in follow-up assessments to support the characterization of disease progression over time. A parallel control group will also be recruited to facilitate biomarker discovery and improve understanding of factors associated with disease prognosis.
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
- 是
入选标准
- •Confirmed diagnosis of Myotonic Dystrophy Type 1 (DM1) through genetic testing.
排除标准
- •There are no exclusion criteria for the registry
研究组 & 干预措施
Myotonic Dystrophy Type 1 (DM1)
The group included Individuals with a confirmed genetic diagnosis of Myotonic Dystrophy Type 1 (DM1)
干预措施: Patient Registry (Other)
Control
The group included control subjects as individuals without a genetic diagnosis of Myotonic Dystrophy Type 1 (DM1).
干预措施: Patient Registry (Other)
结局指标
主要结局
Genomic Caracterization
时间窗: 1 year, year 1
Long-read genomic sequencing analyses encompassing CTG expansion characterization and whole-genome genetic and epigenetic profiling.
次要结局
- Proteomic Characterization(1 year, year 1)
- WAIS IV neuropsychological tests(2 years, year 1)
- vHOT(1 year, year 1)
- Muscular Impairment Rating Scale (MIRS)(1 year, year 1)
- Hand Grip Strength(1 year, year 1)
- 6MWT(1 year, year 1)
- 10MWRT(1 year, year 1)
- 30CST(1 year, year 1)
- FVC(1 year, year 1)
- Electrocardiogram (ECG)(1 year, year 1)
- BMI(1 year, year 1)
- OBGYN events(1 year, year 1)
- GI symptomatology(1 year, year 1)
- MBS (Myotonia Behaviour Scale)(1 year, year 1)
- Modified Rankin Scale (mRS)(1 year, year 1)
- Patient-Reported Outcome: Quality of life(1 year, year 1)
- Patient-Reported Outcome: Fatigue(1 year, year 1)
- Patient-Reported Outcome: Dietary Habits(1 year, year 1)
- Patient-Reported Outcome: Sleepiness(1 year, year 1)
- Patient-Reported Outcome: Apathy(1 year, year 1)
- Patient-Reported Outcome: Physical Activity(1 year, year 1)
- Patient-Reported Outcome: Mental Health(1 year, year 1)