Muscular Dystrophy, FacioscapulohumeralNCT06517498
Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy
An observational study of Muscular Dystrophy, Facioscapulohumeral, run by Xi'an Jiaotong University at 1 site in China.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Muscular Dystrophy, Facioscapulohumeral
- How many people
- 300 participants
- Where
- 1 siteChina
- Study dates
- 1 Mar 2024to Jul 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study will focus on individuals diagnosed as Facioscapulohumeral Muscular Dystrophy in all sex and age groups.
Who may be able to join
- Having been diagnosed as Facioscapulohumeral Muscular Dystrophy
Who cannot join
- No
Trial locations and contacts
1 site in 1 country.
China1 site, 1 recruiting
- Recruiting
Health Science Center of Xi'an Jiaotong University
Xi'an, Shaanxi, 710049
Wenjing Ji, PhD, +86 18221252258, yfyx_8312@163.com
About this study
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:
- What's the patient journey of patients with Facioscapulohumeral Muscular Dystrophy?
- How does Facioscapulohumeral Muscular Dystrophy burden the patients?
- How's the quality of life of patients with Facioscapulohumeral Muscular Dystrophy?
Read more
Patients with Facioscapulohumeral Muscular Dystrophy will be asked to:
- fill a questionnaire.
- 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.
Read the 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:
- What is the patient journey of individuals with Facioscapulohumeral Muscular Dystrophy?
- How does Facioscapulohumeral Muscular Dystrophy burden the patients?
- 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:
- Illness Experience: Participants will describe their journey from initial symptoms to diagnosis and ongoing management of the disease.
- 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.
- 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.
- Conditions
- Muscular Dystrophy, Facioscapulohumeral
- Being tested
- No Intervention
- Keywords
- Facioscapulohumeral Muscular Dystrophy, Disease Burden, Quality of Life, Living Situation
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No InterventionOther
No Intervention will be conducted
| Study group | Role | What they receive |
|---|---|---|
| Patients With Facioscapulohumeral Muscular Dystrophy | No intervention will be administered Receives: Other: No Intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Jul 2024
- Study start1 Mar 2024
- Primary completionMar 2025 (estimated)
- Study completionJul 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Muscular Dystrophy, FacioscapulohumeralStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Ecologic or community
- Time perspective
- Retrospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Xi'an Jiaotong University
- Sponsor type
- University, hospital or other
- Collaborators
- Chinese Organization for Rare Disorders, First Affiliated Hospital of Fujian Medical University
- Responsible party
- Principal investigator, Wenjing Ji, Xi'an Jiaotong University
- Investigators
- Wenjing Ji, PhD, Principal investigator, Xi'an Jiaotong University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06517498
- Sponsor's protocol ID
- XJTU-CDSP_02
- Status last verified
- Jul 2024
- First submitted
- 9 Jul 2024
- Last updated
- 24 Jul 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: No IPD will be shared
Publications
Ji W, Zhao Y, Kang Y, He Z, Xu L, Shukar S, Aikepaier A, Chen X, He Q, Zeng M, Lin Y, Lin M, Maimaiti H, Liu T, Li L, Wang Z, Fang Y. Assessing the multidimensional burden of facioscapulohumeral muscular dystrophy through patient-reported outcomes and experience. J Patient Rep Outcomes. 2026 Feb 25;10(1):50. doi: 10.1186/s41687-026-01026-z.
PubMed 41739307
Study at a glance
From the registry record, last updated by the sponsor on 24 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT06517498
- Acronym / sponsor ID
- XJTU-CDSP_02
- Conditions
- Muscular Dystrophy, Facioscapulohumeral
- Keywords
- Facioscapulohumeral Muscular Dystrophy, Disease Burden, Quality of Life, Living Situation
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Xi'an Jiaotong UniversityUniversity, hospital or other
- Collaborators
- Chinese Organization for Rare Disorders, First Affiliated Hospital of Fujian Medical University
- Study start
- 1 Mar 2024 (actual)
- Primary completion
- Mar 2025 (estimated)
- Study completion
- Jul 2025 (estimated)
- First posted
- 24 Jul 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- What's the patient journey of patients with Facioscapulohumeral Muscular Dystrophy?
- How does Facioscapulohumeral Muscular Dystrophy burden the patients?
- How's the quality of life of patients with Facioscapulohumeral Muscular Dystrophy?
Patients with Facioscapulohumeral Muscular Dystrophy will be asked to:
- fill a questionnaire.
- 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:
- What is the patient journey of individuals with Facioscapulohumeral Muscular Dystrophy?
- How does Facioscapulohumeral Muscular Dystrophy burden the patients?
- 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:
- Illness Experience: Participants will describe their journey from initial symptoms to diagnosis and ongoing management of the disease.
- 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.
- 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.
Study design
- Observational model
- Ecologic or community
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients With Facioscapulohumeral Muscular Dystrophy | – | Other: No InterventionNo intervention will be administered |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study will focus on individuals diagnosed as Facioscapulohumeral Muscular Dystrophy in all sex and age groups.
Key inclusion criteria (1 listed)
- Having been diagnosed as Facioscapulohumeral Muscular Dystrophy
Key exclusion criteria (1 listed)
- No
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No InterventionNo Intervention will be conducted | Other | Patients With Facioscapulohumeral Muscular Dystrophy |
Primary outcome
EQ-5D
Time frame: 1 year
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.
Anxiety Level
Time frame: 1 year
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.
Economic Burden
Time frame: 1 year
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.
Disease Burden
Time frame: 1 year
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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Jul 2024.
- Derived from this study: PubMed 41739307Ji W, Zhao Y, Kang Y, He Z, Xu L, Shukar S, Aikepaier A, Chen X, He Q, Zeng M, Lin Y, Lin M, Maimaiti H, Liu T, Li L, Wang Z, Fang Y. Assessing the multidimensional burden of facioscapulohumeral muscular dystrophy through patient-reported outcomes and experience. J Patient Rep Outcomes. 2026 Feb 25;10(1):50. doi: 10.1186/s41687-026-01026-z.
- Individual participant dataSharing planned: No. No IPD will be shared
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Wenjing Ji, PhD principal investigator
Xi'an Jiaotong University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Muscular Dystrophy, Facioscapulohumeral, run by Xi'an Jiaotong University at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 24 Jul 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Wenjing Ji, PhD (+86 18221252258, yfyx_8312@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
EQ-5D (time frame: 1 year). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06517498, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Jul 2024.