International GNE Myopathy Patient Registry
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|ClinicalTrials.gov Identifier: NCT04009226|
Recruitment Status : Unknown
Verified July 2019 by Newcastle University.
Recruitment status was: Recruiting
First Posted : July 5, 2019
Last Update Posted : October 6, 2020
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.
|Condition or disease||Intervention/treatment|
|GNE Myopathy Hereditary Inclusion Body Myopathy||Other: Patient Registry|
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.
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
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||430 participants|
|Target Follow-Up Duration:||5 Years|
|Official Title:||International GNE Myopathy Patient Registry (GNE001)|
|Actual Study Start Date :||March 2014|
|Estimated Primary Completion Date :||December 2021|
|Estimated Study Completion Date :||December 2021|
|Participants with GNE||
Other: Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
- Disease history [ Time Frame: 12 months ]Patient reported disease history including GNE myopathy diagnosis.
- General medical history [ Time Frame: 12 months ]Patient reported general medical history.
- Medication use [ Time Frame: 12 months ]Patient reported medical use.
- Quality of life questionnaire (non-validated) [ Time Frame: 12 months ]Patient reported quality of life
- Level of physical activity [ Time Frame: 12 months ]Patient reported level of physical activity
- Muscle biopsy and genetic testing status [ Time Frame: 12 months ]Patient reported history of muscle biopsy and details of whether they have undergone genetic testing for GNE myopathy
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04009226
|Contact: Registry Curator||0191 email@example.com|
|John Walton Muscular Dystrophy Research Centre||Recruiting|
|Newcastle Upon Tyne, United Kingdom, NE1 3BZ|
|Contact: Registry Curator 0191 2418605 firstname.lastname@example.org|
|Principal Investigator: Volker Straub, MD, PhD|
|Principal Investigator:||Volker Straub, MD, PhD||John Walton Muscular Dystrophy Research Centre|