Facioscapulohumeral Muscular DystrophyNCT04001582
The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry
An observational study of Facioscapulohumeral Muscular Dystrophy, run by Newcastle University at 1 site in United Kingdom.
Trial summary
Facioscapulohumeral Dystrophy (FSHD) is the third most common form of neuromuscular dystrophy worldwide with an estimated prevalence of one in 20,000. FSHD is an autosomal dominant genetic disease and is estimated to affect up to 3,000 people in the UK. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Facioscapulohumeral Muscular Dystrophy
- What is being tested?
- Patient Registry
- How many people
- 1,018 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- May 2013to Jan 2040
- How long will I take part?
- 99 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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: Participants with FSHD volunteer to participate in this study. The registry is advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences and meetings throughout the UK.
Who may be able to join
- All patients with a confirmed FSHD diagnosis (or pending diagnosis) who reside in the UK are eligible for inclusion.
Who cannot join
- Any confirmed NMD other than FSHD
- Living outside of the UK
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Registries Team contact
United Kingdom1 site, 1 recruiting
- Recruiting
John Walton Muscular Dystrophy Research Centre
Newcastle upon Tyne, NE1 3BZ
Registry Project Manager and Curator, 0191 2418640, fshdregistry@newcastle.ac.uk
Chiara Marini-Bettolo, MD, PhD
About this study
Official title: The UK Facioscapulohumeral Muscular Dystrophy Patient Registry
Facioscapulohumeral Dystrophy (FSHD) is the third most common form of neuromuscular dystrophy worldwide with an estimated prevalence of one in 20,000. FSHD is an autosomal dominant genetic disease and is estimated to affect up to 3,000 people in the UK.
The patient registry facilitates a questionnaire based research study to better characterise and understand the disease in the UK, and helps to identify potential participants eligible for clinical trials.
Read the detailed description
The UK FSHD Patient Registry (https://www.fshd-registry.org/uk/) recruits any individual, from anywhere within the United Kingdom, with a diagnosis of FSHD. The registry is sponsored by Muscular Dystrophy UK. Participants may be referred to the registry by health care professionals, genetic testing/laboratory centres who are aware of the registry etc. Alternatively, a participant may have discovered the registry via promotional activities or by their own online searches. After completing the consent process, participants are able to enter information on to the registry platform (note all forms are available to view on the registry website before joining the registry). This is an ongoing database and all participants are invited to update their information on an annual basis.
The database is designed to be self reporting, however where specialised clinical or genetic information is required, the neuromuscular specialist in charge of the participants care can be invited to provide some additional information. The participant is able to select a health care provider from a pre-populated list at registration stage, if they wish to (optional feature). This information is included in the patient information and consent. Relevant R\&D approval has been recieved.
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Being tested
- Patient Registry
- Keywords
- FSHD, Facioscapulohumeral Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy Type 1, Facioscapulohumeral Muscular Dystrophy Type 2, Muscular Dystrophy
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral, Muscular Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Patient RegistryOther
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
| Study group | Role | What they receive |
|---|---|---|
| Participants with FSHD | Patients with a confirmed or pending diagnosis of FSHD, living in the UK are eligible to join the registry. Parents/guardians can register a child under 16 years old. Receives: Other: Patient Registry |
What is being measured
The primary outcome is the main question the study is designed to answer.
Patient questionnaire
Patient reported FSHD clinical diagnosis, symptoms relating to muscle weakness, motor function, ventilation, retinal vascular disease, hearing loss, scapular fixation, family history and ethnicity.
Measured: 12 months
McGill Pain Questionnaire
Patient reported current pain.
Measured: 12 months
FSHD Pain Questionnaire
Patient reported experience of pain.
Measured: 12 months
The Short Form Health Survey (SF-36)
Patient reported quality of life.
Measured: 12 months
The Individualized Neuromuscular Quality of Life questionnaire (INQoL)
Patient reported quality of life.
Measured: 12 months
Scapular fixation questionnaire
Patient reported experience of scapular fixation surgery.
Measured: 12 months
Clinician questionnaire
Clinician reported genetic confirmation of FSHD.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jun 2019
- Study startMay 2013
- Primary completionJan 2040 (estimated)
- Study completionJan 2040 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Facioscapulohumeral Muscular DystrophyStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,018 participants (estimated)
- Target duration
- 99 Years
Sponsor and investigators
- Lead sponsor
- Newcastle University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Chiara Marini-Bettolo, MD, PhD, Principal investigator, John Walton Muscular Dystrophy Research Centre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04001582
- Sponsor's protocol ID
- 18/NE/0288
- Status last verified
- Aug 2026
- First submitted
- 25 Jun 2019
- Last updated
- 20 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Moris G, Wood L, FernaNdez-Torron R, Gonzalez Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmuller H, Evangelista T. Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7.
PubMed 29053898Ricci G, Cammish P, Siciliano G, Tupler R, Lochmuller H, Evangelista T. Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. Muscle Nerve. 2019 Jun;59(6):711-713. doi: 10.1002/mus.26474. Epub 2019 Apr 4.
PubMed 30895627Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmuller H. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.
PubMed 27159994
Study at a glance
From the registry record, last updated by the sponsor on 20 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The UK Facioscapulohumeral Muscular Dystrophy Patient Registry
- ClinicalTrials.gov ID
- NCT04001582
- Acronym / sponsor ID
- 18/NE/0288
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Keywords
- FSHD, Facioscapulohumeral Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy Type 1, Facioscapulohumeral Muscular Dystrophy Type 2, Muscular Dystrophy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,018 participants (estimated)
- Lead sponsor
- Newcastle UniversityUniversity, hospital or other
- Study start
- May 2013 (actual)
- Primary completion
- Jan 2040 (estimated)
- Study completion
- Jan 2040 (estimated)
- First posted
- 28 Jun 2019 (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.
Facioscapulohumeral Dystrophy (FSHD) is the third most common form of neuromuscular dystrophy worldwide with an estimated prevalence of one in 20,000. FSHD is an autosomal dominant genetic disease and is estimated to affect up to 3,000 people in the UK.
The patient registry facilitates a questionnaire based research study to better characterise and understand the disease in the UK, and helps to identify potential participants eligible for clinical trials.
Detailed description
The UK FSHD Patient Registry (https://www.fshd-registry.org/uk/) recruits any individual, from anywhere within the United Kingdom, with a diagnosis of FSHD. The registry is sponsored by Muscular Dystrophy UK. Participants may be referred to the registry by health care professionals, genetic testing/laboratory centres who are aware of the registry etc. Alternatively, a participant may have discovered the registry via promotional activities or by their own online searches. After completing the consent process, participants are able to enter information on to the registry platform (note all forms are available to view on the registry website before joining the registry). This is an ongoing database and all participants are invited to update their information on an annual basis.
The database is designed to be self reporting, however where specialised clinical or genetic information is required, the neuromuscular specialist in charge of the participants care can be invited to provide some additional information. The participant is able to select a health care provider from a pre-populated list at registration stage, if they wish to (optional feature). This information is included in the patient information and consent. Relevant R\&D approval has been recieved.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 99 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with FSHD | – | Other: Patient RegistryPatients with a confirmed or pending diagnosis of FSHD, living in the UK are eligible to join the registry. Parents/guardians can register a child under 16 years old. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants with FSHD volunteer to participate in this study. The registry is advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences and meetings throughout the UK.
Key inclusion criteria (1 listed)
- All patients with a confirmed FSHD diagnosis (or pending diagnosis) who reside in the UK are eligible for inclusion.
Key exclusion criteria (2 listed)
- Any confirmed NMD other than FSHD
- Living outside of the UK
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 |
|---|---|---|
| Patient RegistryParticipants who have volunteered to participate will complete various questionnaires relating to their condition. | Other | Participants with FSHD |
Primary outcome
Patient questionnaire
Time frame: 12 months
Patient reported FSHD clinical diagnosis, symptoms relating to muscle weakness, motor function, ventilation, retinal vascular disease, hearing loss, scapular fixation, family history and ethnicity.
McGill Pain Questionnaire
Time frame: 12 months
Patient reported current pain.
FSHD Pain Questionnaire
Time frame: 12 months
Patient reported experience of pain.
The Short Form Health Survey (SF-36)
Time frame: 12 months
Patient reported quality of life.
The Individualized Neuromuscular Quality of Life questionnaire (INQoL)
Time frame: 12 months
Patient reported quality of life.
Scapular fixation questionnaire
Time frame: 12 months
Patient reported experience of scapular fixation surgery.
Clinician questionnaire
Time frame: 12 months
Clinician reported genetic confirmation of FSHD.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Aug 2026.
- Results publication: PubMed 29053898Moris G, Wood L, FernaNdez-Torron R, Gonzalez Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmuller H, Evangelista T. Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7.
- Results publication: PubMed 30895627Ricci G, Cammish P, Siciliano G, Tupler R, Lochmuller H, Evangelista T. Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy. Muscle Nerve. 2019 Jun;59(6):711-713. doi: 10.1002/mus.26474. Epub 2019 Apr 4.
- Results publication: PubMed 27159994Evangelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Rafferty K, Guglieri M, Lochmuller H. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. J Neurol. 2016 Jul;263(7):1401-8. doi: 10.1007/s00415-016-8132-1. Epub 2016 May 9.
- The UK FSHD Patient Registry websiteLink provided by the sponsor.
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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.
Registries Team contact
Chiara Marini-Bettolo, MD, PhD principal investigator
John Walton Muscular Dystrophy Research Centre
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 Facioscapulohumeral Muscular Dystrophy, run by Newcastle University at 1 site in United Kingdom.
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 2 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: looking for participants now, as of the sponsor's last update on 20 Aug 2026. 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 United Kingdom. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Registry Project Manager and Curator (0191 2418640, registries@newcastle.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Patient questionnaire (time frame: 12 months). The study lists 7 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 NCT04001582, which also lists 3 linked publications.
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 20 Aug 2026.