LGMD2INCT04001595
Global FKRP Registry
An observational study of LGMD2I and LGMDR9, run by Newcastle University at 1 site in United Kingdom.
Trial summary
Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type R9 (LGMDR9) also known as LGMD2I, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- LGMD2I, LGMDR9, Limb Girdle Muscular Dystrophy
- What is being tested?
- Patient Registry
- How many people
- 1,000 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- Nov 2013to Dec 2025
- How long will I take part?
- 10 Years
- 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: Participants who have undergone genetic testing for an FKRP-related condition or have a confirmed diagnosis of an FKRP-related condition can self-register to participate in this study. The study will be advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences.
Who may be able to join
- All patients with a confirmed diagnosis of an FKRP-related condition are eligible for inclusion. Diagnosis will be confirmed via genetic testing results.
Who cannot join
- There is no exclusion criteria for registration with this patient registry.
Trial locations and contacts
1 site in 1 country.
Patient Registry Team contact
United Kingdom1 site, 1 recruiting
- Recruiting
John Walton Muscular Dystrophy Research Centre, Newcastle University
Newcastle upon Tyne, NE1 3BZ
Patient Registry manager and curator, 0191 2418640, fkrpregistry@newcastle.ac.uk
Patient Registry Team, registries@newcastle.ac.uk
About this study
Official title: Global Fukutin-Related Protein Registry
Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type R9 (LGMDR9) also known as LGMD2I, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). LGMDR9 is the most common FKRP-related condition, and is especially prevalent in Northern Europe.
The aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease globally. By maintaining a global registry this will help identify potential participants eligible for clinical trials in the future.
Read the detailed description
The Global FKRP Registry (https://www.fkrp-registry.org/) is an international registry for patients with an FKRP-related condition; no experimental intervention is involved. Patients will receive information on the most up to date standards of care relating to their disease and may be invited to participate in relevant clinical trials. Their data will be updated annually and stored indefinitely, or until they request their data to be removed.
The data will be collected via an online form and will be stored on a secure server based in the United Kingdom and looked after by the registry staff at Newcastle University. Data collected from patients will include demographic information, diagnosis, current condition, age of onset, medication, contractures, family history and results of genetic testing, if available. Other optional questionnaires will focus on patients' pain and quality of life. Further information collected from patients' doctors will include, heart and lung function, muscle strength, muscle and brain MRI findings and genetics.
The FKRP registry is funded by LGMD2i Research Fund and CureLGMD2i.
The primary objectives of the Global FKRP Registry are to:
- Accelerate and facilitate clinical trials by locating potential research subjects quickly and efficiently
- Facilitate in the planning of clinical trials
- Assist the neuromuscular community with the development of recommendations and standards of care
- Characterise and describe the FKRP population as a whole, enhancing the understanding of the prevalence throughout the world.
- Conditions
- LGMD2I, LGMDR9, Limb Girdle Muscular Dystrophy, Congenital Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome
- Being tested
- Patient Registry
- Keywords
- LGMD2I, LGMDR9, Limb Girdle Muscular Dystrophy, Congenital Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, FKRP gene mutation
- Medical subject headings
- Muscular Dystrophy, Limb-Girdle, Type 2I, Muscular Dystrophies, Limb-Girdle, Walker-Warburg Syndrome
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 FKRP gene mutation | Not described 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 FKRP clinical diagnosis, symptoms relating to muscle weakness, motor function and family history.
Measured: 12 months
McGill Pain Questionnaire
Patient-reported current pain.
Measured: 12 months
Individualized Neuromuscular Quality of Life questionnaire (INQoL)
Patient-reported quality of life.
Measured: 12 months
Clinician questionnaire
Doctor-reported clinical data, including respiratory and cardiac test results and genetic confirmation of FKRP mutation.
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 startNov 2013
- Primary completionDec 2025 (estimated)
- Study completionDec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for LGMD2IStudies 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
- 1,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Newcastle University
- Sponsor type
- University, hospital or other
- Collaborators
- LGMD2i Research Fund, CureLGMD2i, Ludwig-Maximilians - University of Munich
- Responsible party
- Sponsor
- Investigators
- Volker Straub, MD, PhD, Principal investigator, John Walton Muscular Dystrophy Research Centre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04001595
- Sponsor's protocol ID
- 23NE0222
- Status last verified
- Jan 2024
- First submitted
- 25 Jun 2019
- Last updated
- 30 Jan 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmuller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Ann Clin Transl Neurol. 2020 May;7(5):757-766. doi: 10.1002/acn3.51042. Epub 2020 Apr 28.
PubMed 32342672Richardson M, Mayhew A, Muni-Lofra R, Murphy LB, Straub V. Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases. J Clin Med. 2021 Nov 25;10(23):5517. doi: 10.3390/jcm10235517.
PubMed 34884219
Study at a glance
From the registry record, last updated by the sponsor on 30 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Global Fukutin-Related Protein Registry
- ClinicalTrials.gov ID
- NCT04001595
- Acronym / sponsor ID
- 23NE0222
- Conditions
- LGMD2I, LGMDR9, Limb Girdle Muscular Dystrophy, Congenital Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome
- Keywords
- LGMD2I, LGMDR9, Limb Girdle Muscular Dystrophy, Congenital Muscular Dystrophy, Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, FKRP gene mutation
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Newcastle UniversityUniversity, hospital or other
- Collaborators
- LGMD2i Research Fund, CureLGMD2i, Ludwig-Maximilians - University of Munich
- Study start
- Nov 2013 (actual)
- Primary completion
- Dec 2025 (estimated)
- Study completion
- Dec 2025 (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.
Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type R9 (LGMDR9) also known as LGMD2I, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). LGMDR9 is the most common FKRP-related condition, and is especially prevalent in Northern Europe.
The aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease globally. By maintaining a global registry this will help identify potential participants eligible for clinical trials in the future.
Detailed description
The Global FKRP Registry (https://www.fkrp-registry.org/) is an international registry for patients with an FKRP-related condition; no experimental intervention is involved. Patients will receive information on the most up to date standards of care relating to their disease and may be invited to participate in relevant clinical trials. Their data will be updated annually and stored indefinitely, or until they request their data to be removed.
The data will be collected via an online form and will be stored on a secure server based in the United Kingdom and looked after by the registry staff at Newcastle University. Data collected from patients will include demographic information, diagnosis, current condition, age of onset, medication, contractures, family history and results of genetic testing, if available. Other optional questionnaires will focus on patients' pain and quality of life. Further information collected from patients' doctors will include, heart and lung function, muscle strength, muscle and brain MRI findings and genetics.
The FKRP registry is funded by LGMD2i Research Fund and CureLGMD2i.
The primary objectives of the Global FKRP Registry are to:
- Accelerate and facilitate clinical trials by locating potential research subjects quickly and efficiently
- Facilitate in the planning of clinical trials
- Assist the neuromuscular community with the development of recommendations and standards of care
- Characterise and describe the FKRP population as a whole, enhancing the understanding of the prevalence throughout the world.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with FKRP gene mutation | – | Other: Patient Registry |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants who have undergone genetic testing for an FKRP-related condition or have a confirmed diagnosis of an FKRP-related condition can self-register to participate in this study. The study will be advertised through neuromuscular disease clinics, the registry website, patient organisations and conferences.
Key inclusion criteria (1 listed)
- All patients with a confirmed diagnosis of an FKRP-related condition are eligible for inclusion. Diagnosis will be confirmed via genetic testing results.
Key exclusion criteria (1 listed)
- There is no exclusion criteria for registration with this patient registry.
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 FKRP gene mutation |
Primary outcome
Patient questionnaire
Time frame: 12 months
Patient-reported FKRP clinical diagnosis, symptoms relating to muscle weakness, motor function and family history.
McGill Pain Questionnaire
Time frame: 12 months
Patient-reported current pain.
Individualized Neuromuscular Quality of Life questionnaire (INQoL)
Time frame: 12 months
Patient-reported quality of life.
Clinician questionnaire
Time frame: 12 months
Doctor-reported clinical data, including respiratory and cardiac test results and genetic confirmation of FKRP mutation.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jan 2024.
- Background: PubMed 32342672Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmuller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9. Ann Clin Transl Neurol. 2020 May;7(5):757-766. doi: 10.1002/acn3.51042. Epub 2020 Apr 28.
- Background: PubMed 34884219Richardson M, Mayhew A, Muni-Lofra R, Murphy LB, Straub V. Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases. J Clin Med. 2021 Nov 25;10(23):5517. doi: 10.3390/jcm10235517.
- Global FKRP Registry websiteLink provided by the sponsor.
- Individual participant dataSharing planned: No
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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.
Patient Registry Team contact
Volker Straub, 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 LGMD2I and LGMDR9, 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 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 30 Jan 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 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Patient Registry Manager and Curator (0191 2418640, fkrpregistry@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 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 NCT04001595, which also lists 2 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 30 Jan 2024.