Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy

NCT06517498 | Recruiting

• 1 other identifier: XJTU-CDSP_02
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

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. 1.What's the patient journey of patients with Facioscapulohumeral Muscular Dystrophy?
2. 2.How does Facioscapulohumeral Muscular Dystrophy burden the patients?
3. 3.How's the quality of life of patients with Facioscapulohumeral Muscular Dystrophy?
4. 4.fill a questionnaire.
5. 5.be interviewed and answer questions about their illness experience, economic burden, quality of life and etc.

Conditions

Muscular Dystrophy, Facioscapulohumeral

Keywords

Facioscapulohumeral Muscular Dystrophy; Disease Burden; Quality of Life; Living Situation

Outcome Measures

Primary Outcomes (4)

• 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

Study Arms (1)

Patients With Facioscapulohumeral Muscular Dystrophy

No intervention will be administered

Other: No Intervention

Interventions

No Intervention OTHER

No Intervention will be conducted

Patients With Facioscapulohumeral Muscular Dystrophy

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study will focus on individuals diagnosed as Facioscapulohumeral Muscular Dystrophy in all sex and age groups.

You may qualify if:

• Having been diagnosed as Facioscapulohumeral Muscular Dystrophy

Sponsors & Collaborators

• Xi'an Jiaotong University: lead
• Chinese Organization for Rare Disorders: collaborator
• First Affiliated Hospital of Fujian Medical University: collaborator

Study Sites (1)

Health Science Center of Xi'an Jiaotong University

Xi'an, Shaanxi, 710049, China

RECRUITING

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Wenjing Ji, PhD

  Xi'an Jiaotong University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Wenjing Ji, PhD

CONTACT

+86 18221252258; yfyx_8312@163.com

Study Design

• Study Type: observational
• Observational Model: ECOLOGIC OR COMMUNITY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor

Study Record Dates

• First Submitted: July 9, 2024
• First Posted: July 24, 2024
• Study Start: March 1, 2024
• Primary Completion: March 1, 2025
• Study Completion: July 1, 2025
• Last Updated: July 24, 2024

Record last verified: 2024-07

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)