Projects supported
Since 2016, the Global FKRP Patient Registry has supported a wide range of research by helping connect patients and families with research studies, surveys, and clinical trials. The registry has also facilitated the secure sharing of de-identified data with researchers, helping to improve understanding of FKRP-related muscular dystrophies and support the development of future treatments.
We would like to thank all the patients, families and caregivers for their involvement in these projects, and for continuing to support researchers by engaging in such projects.
Please see below the range of projects that the registry has supported over the years.
Academic
The registry supported clinical trial recruitment of a DXA study aiming to identify challenges and solutions in the DXA scanning experience for non-ambulant individuals with neuromuscular conditions.
Type: Recruitment support
Inclusion criteria:
Female and male patients
Age: ≥ 16 years old
Full time wheelchair user
UK resident
Parents/caregiver of a person with a neuromuscular condition who is full time wheelchair user
Industry
The registry supported the recruitment of a phase I/II gene therapy trial, which recruited USA participants diagnosed with LGMDR9.
Type: Recruitment support
Inclusion criteria:
Female and male patients
Age: 18-65 years old
Able to climb stairs
USA resident
Industry
The registry supported a data request enquiry coordinated by TREAT-NMD Global Registry Network to support the assessment of all LGMD subtypes across all the registries in the network.
Type: Data request
Inclusion criteria:
All registrants with LGMD condition.
Industry
The registry supported a data request for a retrospective natural history study of LGMDR9, aiming to characterise disease progression and evaluate the influence of genotype, disease timeline, and ambulatory status to inform prognosis, clinical management, and clinical trial design.
Type: Data request
Inclusion criteria:
Female and male patients
Age: ≥ 12 years old
Ambulant and non-ambulant
Resident in the US, Canada, EU or UK
Industry
The registry supported recruitment to a clinical trial evaluating the safety and efficacy of an investigational oral therapy for adults with LGMDR9, aiming to determine whether treatment can improve disease symptoms.
Type: Recruitment support
Inclusion criteria:
Female and male patients
Genetically confirmed LGMDR9
Ambulant
Age: 18-60 years
Additional criteria applied, including contraception requirements, no liver abnormalities and no steroid use.
Industry
The registry supported site identification for a clinical trial evaluating the safety of an investigational treatment in adults with genetically confirmed LGMDR9.
Type: Site identification support
Inclusion criteria:
Female and male patients
Genetically confirmed LGMDR9
Ambulant and non-ambulant
Adults
Resident in the US
Academic
The registry circulated information about an anonymous survey exploring the unmet needs of people with neuromuscular disorders to inform the development of a Neuromuscular Complex Care Centre and improve coordinated, patient-centred care.
Type: Survey circulation
Inclusion criteria:
Female and male patients (parents and caregivers)
Ambulant and non-ambulant
All ages
Resident in the UK
Industry
The registry supported the recruitment of individuals with LGMDR9 for gene therapy trial aiming to find out whether it is safe to deliver the study drug into the bloodstream via a single intravenous infusion and if this treatment can improve or correct patients’ disease symptoms.
Type: Recruitment support
Inclusion criteria: Female and male patients
Age: ≥ 16 years old
Ambulant and non-ambulant
Mild to moderate respiratory impairment
No severe cardiac impairment
Countries: Denmark, France, UK, Ireland, Norway, Sweden and Belgium
Industry
The registry supported a data request enquiry aiming to define the distribution of specific phenotypes in the LGDMR9 population.
Type: data request
Inclusion criteria: Female and male patients
Age: 18-65 years old
Ambulant and non-ambulant
With or without use of non-invasive ventilation
Have severe respiratory impairment (FVC < 40%)
Have reported cardiac assessment
Worldwide
Industry
The registry supported recruitment for a Natural History study for LGMDR9 patients aiming to establish a standardised set of pelvic and shoulder girdle clinical outcome assessments for LGMDR9, evaluate their sensitivity to disease progression over time, and develop a reliable measure of dystroglycosylation in human skeletal muscle.
Type: Recruitment support
Inclusion criteria: Female and male patients
Age: 10-65 in USA and 18-65 in Denmark
Ambulant and non-ambulant
Academic
The registry circulated information about a questionnaire exploring fatigue in young people with neuromuscular diseases, aiming to understand its impact on daily life, including social activities, sleep, and mood.
Type: Survey circulation
Inclusion criteria:
Female and male patients
Ambulant and non-ambulant
Age: 11-18 years
Resident in the UK
Industry
The registry provided aggregated, de-identified longitudinal natural history data to help with the establishment of baseline expectations of LGMDR9 progression important for the development process of a protocol for a pivotal trial of a disease modifying therapy.
Type: Data request
Inclusion criteria: Female and male patients
Ambulant and non-ambulant
Age: All (Adults, homozygous for the common mutation (L276I); Adults, heterozygous gene mutation (i.e. not homozygous for the common L276I mutation); Paediatric, homozygous for the common mutation (L276I); Paediatric heterozygous gene mutation).
Patient Organisation
The registry circulated information about an anonymous survey exploring the experiences of people living with rare diseases and their caregivers, aiming to evaluate the impact of the UK Rare Disease Framework and inform future policy, research, and improvements in care.
Type: Survey circulation
Inclusion criteria:
Individuals with a rare disease
Caregivers
Residents in the UK
Academic
The registry supported a data request by facilitating recruitment to an anonymous survey exploring pregnancy, childbirth, and early parenting experiences among women with neuromuscular diseases, with the aim of informing future clinical guidelines and patient support strategies.
Type: Survey circulation
Inclusion criteria: Female and male patients
Ambulant and non-ambulant
Age: Over 18
Worldwide
Hospital
The registry supported a TREAT-NMD Limb Girdle Muscular Dystrophy (LGMD) advisory group study by helping to distribute a survey exploring current diagnostic and clinical care practices and patient experiences to inform future LGMD Standards of Care.
Type: Study information circulation
Inclusion criteria: Female and male patients
Ambulant and non-ambulant
Age: 0-99 years
Worldwide
Industry
The registry circulated information about an international anonymous survey exploring the perspectives of people living with neuromuscular diseases, their families, and caregivers on the use of wearable devices and digital clinical outcome measures in clinical trials to support the development and regulatory qualification of meaningful digital endpoints.
Type: Survey circulation
Inclusion criteria:
Female and male patients (families and caregivers)
Ambulant and non-ambulant
Age: all
Worldwide
Industry
The registry supported a data request enquiry seeking longitudinal respiratory function data from individuals with LGMDR9. Specifically, data from patients with multiple forced vital capacity (FVC) assessments to help inform the design of a future gene therapy clinical trial.
Type: Data request
Inclusion criteria: Female and male patients
Ambulant and non-ambulant
Age: all
Worldwide
Academic
The registry supported a study reviewing data on pain experienced by individuals with confirmed FKRP gene mutations, aiming to compare the frequency of pain in this patient group with other muscular dystrophies and the general population.
Type: Data request
Inclusion criteria:
Female and male patients
Ambulant and non-ambulant
Confirmed FKRP gene mutation
Age: Over 18
Resident in the UK and Ireland
Academic
The registry circulated information about a UK survey on long-term ventilation (LTV), aiming to evaluate the quality of care for children and young people receiving LTV and inform future guidance for healthcare professionals and families through anonymous feedback from patients and carers.
Type: Study information circulation
Inclusion criteria:
Children and young people (parents and carers)
Age: 0-24 years
Resident in the UK
Academic
The registry supported recruitment to a study evaluating the Modified International Physical Activity Questionnaire (MIPAQ) in adults with progressive muscle disease, aiming to determine its reliability, validity and responsiveness for measuring physical activity, and to assess whether Fitbit self-monitoring improves questionnaire-based activity measurement.
Type: Recruitment support
Inclusion criteria:
Female and male patients
Ambulant and non-ambulant
Age: Over 18
Resident in the UK
Academic
The registry supported recruitment to a Norwegian Natural History study of LGMDR9 aiming to identify reliable measures of disease progression, determine the prevalence and genetic characteristics of LGMD 2I in Norway, and assess health-related quality of life among affected individuals.
Type: Recruitment support
Inclusion criteria: Female and male patients
Ambulant and non-ambulant
Age: All
Resident in Norway
Academic
The registry supported the circulation of a patient-reported outcome survey aimed at establishing baseline symptom and disease progression data in LGMDR9 to support future research, clinical studies, and treatment development.
Type: Study information circulation
Inclusion criteria: Female and male patients
Ambulant and non-ambulant
Age: 5-50 years
Europe and USA
Industry
The registry supported recruitment for a Phase 3 clinical trial evaluating the safety and efficacy of deflazacort in adults with LGMDR9 (FKRP-related muscular dystrophy), with the aim of improving muscle function, respiratory outcomes, and overall disease management.
Type: Recruitment support
Inclusion criteria: Female and male patients
Ambulant and non-ambulant
Age: ≥ 18 years old
USA and Canada
Industry
The registry supported recruitment for a prospective and longitudinal natural history study intended to better characterize the LGMDR9 pathology and progression, anticipating that the natural history study would be followed by a phase I/II clinical trial.
Type: Recruitment support
Inclusion criteria: Female and male patients
Ambulant
Age: ≥ 16 years old
France, Denmark and UK
Academic
The registry supported the circulation of an online patient survey for individuals affected by LGMDR9, aiming to better understand the use of complementary and alternative therapies and natural remedies to maintain or improve quality of life.
Type: Study information circulation
Inclusion criteria: Female and male patients
Age: ≥ 18 years old
Ambulant and non-ambulant
Age: 5-50 years
Worldwide
Academic
The registry supported recruitment to a study investigating longitudinal changes in brain structure and function in individuals with DMD to better understand disease progression and the effects of dystrophin deficiency. Patients with LGMD were recruited as control group.
Type: Recruitment support
Inclusion criteria: Male patients
Age: 8-30 years old
Ambulant and non-ambulant
No MRI contra-indication (i.e. pacemaker, metal implant, 24/hr ventilation support)
United Kingdom