Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy
NCT Number: NCT06517498
Status: RECRUITING
Study Type: OBSERVATIONAL
Conditions: Muscular Dystrophy, Facioscapulohumeral
Interventions: OTHER: No Intervention
Sponsor: Health Science Center of Xi'an Jiaotong University
Collaborators: Chinese Organization for Rare Disorders|First Affiliated Hospital of Fujian Medical University
Sex: ALL
Age: CHILD, ADULT, OLDER_ADULT
Enrollment: 300
Study Design: Observational Model: |Time Perspective: p
Start Date: 2024-03-01
Completion Date: 2025-07
Locations: Health Science Center of Xi'an Jiaotong University, Xi'an, Shaanxi, 710049, China

Summary:
The goal of this observational study is to learn the patient journey, disease burden, living situation, quality of life and etc. in patients with Facioscapulohumeral Muscular Dystrophy in all sex/gender and age groups. The main questions it aims to answer are:

1. What's the patient journey of patients with Facioscapulohumeral Muscular Dystrophy?
2. How does Facioscapulohumeral Muscular Dystrophy burden the patients?
3. How's the quality of life of patients with Facioscapulohumeral Muscular Dystrophy?

Patients with Facioscapulohumeral Muscular Dystrophy will be asked to:

1. fill a questionnaire.
2. be interviewed and answer questions about their illness experience, economic burden, quality of life and etc.

Medical experts on Facioscapulohumeral Muscular Dystrophy will be asked to be interviewed and answer questions about understanding on the disease and the patients.

Primary Outcome Measures: EQ-5D, EQ-5D questionnaires will be used to measure the quality of life of the patients. The questionnaires consist of two main parts: Descriptive System and Visual Analog Scale. Descriptive System includes Mobility, Self-Care, Usual Activities, Pain/Discomfort and Anxiety/Depression, each with 5 levels for adults and 3 levels for children. Visual Analog Scalerequires patients to rate their overall health on a scale from 0 to 100, where 0 represents "the worst health you can imagine" and 100 represents "the best health you can imagine." In the end, an index value will be calculated that reflects the patient's overall health status., 1 year|Anxiety Level, The Self-Rating Anxiety Scale will be used to measure the anxiety level of the patients. It consists of 20 items, each describing a common symptom of anxiety. Each item is rated on a 4-point Likert scale. The total score ranges from 20 to 80. In doing so, the anxiety level of the patients can be screened., 1 year|Economic Burden, Questions will designed to explore the economic burden of the patients. Questions include direct and indirect medical costs over the past year, annual incomes, accumulated treatment costs and debts. Each questions include 7 levels. Besides, whether they have public health insurance and commercial insurance will be asked to discover how much the costs can be covered., 1 year|Disease Burden, Questions will designed to explore the disease burden of the patients. Questions include the influence of the disease on respiratory system, dry eyes, whistle, deglutition, speaking and walking. Each question contains 5 levels., 1 year