GNE Myopathy, Hereditary Inclusion Body Myopathy
Conditions
Keywords
Distal Myopathies, Neuromuscular Diseases, Muscular Dystrophies, GNE Myopathy, Hereditary Inclusion Body Myopathy
Brief summary
GNE myopathy, an ultra-rare disease, is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle strength and function, and ultimately a wheelchair-bound state. The rate of progression is gradual and variable over the course of 10-20 years or longer. There is a need to understand the world wide epidemiology of this ultra-rare condition, better understand a long-term disease course and the progression of disease-specific features, support translational research by evaluating burden illness and support clinical research recruitment. Therefore, the study will longitudinally collect information via an online patient registry platform.
Detailed description
GNE myopathy is an ultra- rare condition. Most of the knowledge is coming from case reports or small cohort observations. There is a need to more precisely understand the long-term disease course and the progression of disease-specific features of GNE myopathy, and in turn characterise the overall burden of this illness. Also, to better understand the disease, describe it variability, genotype-phenotype correlation, quality of life, epidemiology, health-economics aspects and need for assistive walking devices. Collected data needs to be harmonised to be compatible collaborative work with Remudy (Japanese patient registry). This collaborative effort will enable the analysis of the largest GNE myopathy data set in the world. To this end, this study will collect patient information longitudinally. Upon patient's agreement, the registry curator can contact nominated clinicians to request additional data or data validation. Study Objectives The objectives of the study are to: * Longitudinally characterize disease-specific features of GNE myopathy * Characterize the burden of illness and quality of life in patients with GNE myopathy * Support recruitment in research activities * Inform registry participants via newsletters about scientific developments in the GNE myopathy field
Interventions
OTHERPatient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
Sponsors
Newcastle University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Aged 18 years or older at the time of informed consent * Clinical and/or genetic diagnosis of GNE myopathy (also known as HIBM, QSM, Inclusion Body Myopathy Type 2, DMRV, or Nonaka disease) * Willing and able to provided electronic (or written) consent and comply with all study requirements.
Exclusion criteria
* Under 18 years of age
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Disease history | 12 months | Patient reported disease history including GNE myopathy diagnosis. |
| General medical history | 12 months | Patient reported general medical history. |
| Medication use | 12 months | Patient reported medical use. |
| Quality of life questionnaire (non-validated) | 12 months | Patient reported quality of life |
| Level of physical activity | 12 months | Patient reported level of physical activity |
| Muscle biopsy and genetic testing status | 12 months | Patient reported history of muscle biopsy and details of whether they have undergone genetic testing for GNE myopathy |
Countries
United Kingdom
Contacts
PRINCIPAL_INVESTIGATORVolker Straub, MD, PhD
John Walton Muscular Dystrophy Research Centre
Outcome results
None listed