Clinical trial NCT06517498: Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy
Official title: Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Muscular Dystrophy, Facioscapulohumeral
Keywords: Facioscapulohumeral Muscular Dystrophy
Disease Burden
Quality of Life
Living Situation
Lead sponsor: Xi'an Jiaotong University
Sponsor class: OTHER
Collaborators: name: Chinese Organization for Rare Disorders
name: First Affiliated Hospital of Fujian Medical University
First posted: 2024-07-24
Enrollment: 300
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: ECOLOGIC_OR_COMMUNITY
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study will focus on individuals diagnosed as Facioscapulohumeral Muscular Dystrophy in all sex and age groups.

Brief 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.

Detailed description: Study Objective This observational study aims to comprehensively understand the patient journey, disease burden, living situation, and quality of life in individuals diagnosed with Facioscapulohumeral Muscular Dystrophy (FSHD). The study encompasses all sex/gender and age groups to provide a holistic view of the disease's impact.

Research Questions

The study focuses on answering the following key questions:

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

Methodology

To gather comprehensive data, participants will be engaged in two main activities:

1.Questionnaire Completion: Participants will fill out a detailed questionnaire designed to capture quantitative data on their health status, symptoms, treatments received, and the impact of FSHD on their daily lives. The questionnaire will also collect demographic information and other relevant background data.

2.In-Depth Interviews with patients with Facioscapulohumeral Muscular Dystrophy: They will undergo semi-structured interviews conducted by trained researchers. These interviews will delve into the personal experiences of living with FSHD, including:

1. Illness Experience: Participants will describe their journey from initial symptoms to diagnosis and ongoing management of the disease.
2. Economic Burden: Discussions will cover the financial impact of FSHD, including costs related to medical care, treatments, and any income loss due to the inability to work.
3. Quality of Life: Interviews will explore the effects of FSHD on various life domains, such as physical health, mental well-being, social relationships, and overall life satisfaction.

3.In-Depth Interviews with medical experts on Facioscapulohumeral Muscular Dystrophy: They will undergo semi-structured interviews conducted by trained researchers. These interviews will delve into their understanding on the disease and the patients.

Expected Outcomes The study aims to generate a detailed understanding of the multifaceted impact of FSHD on patients' lives. By examining the patient journey, disease burden, and quality of life, the study seeks to identify gaps in current healthcare provisions and areas where additional support may be needed. This information will be valuable for healthcare providers, policymakers, and patient support organizations in improving care and support for individuals with FSHD.

Eligibility criteria: Inclusion Criteria:

* Having been diagnosed as Facioscapulohumeral Muscular Dystrophy

Exclusion Criteria:

* No

Primary outcomes:
measure: EQ-5D
timeFrame: 1 year
measure: Anxiety Level
timeFrame: 1 year
measure: Economic Burden
timeFrame: 1 year
measure: Disease Burden
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Xi'an
country: China
facility: Health Science Center of Xi'an Jiaotong University
state: Shaanxi
Study officials:
affiliation: Xi'an Jiaotong University
name: Wenjing Ji, PhD
role: PRINCIPAL_INVESTIGATOR
References: