- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04009226
International GNE Myopathy Patient Registry
International GNE Myopathy Patient Registry (GNE001)
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.
Study Overview
Status
Conditions
Intervention / Treatment
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
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Contact
- Name: Registry Curator
- Phone Number: 0191 2418605
- Email: lucy.imber@newcastle.ac.uk
Study Locations
-
-
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Newcastle Upon Tyne, United Kingdom, NE1 3BZ
- Recruiting
- John Walton Muscular Dystrophy Research Centre
-
Contact:
- Registry Curator
- Phone Number: 0191 2418605
- Email: lucy.imber@newcastle.ac.uk
-
Principal Investigator:
- Volker Straub, MD, PhD
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Participants with GNE
|
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Disease history
Time Frame: 12 months
|
Patient reported disease history including GNE myopathy diagnosis.
|
12 months
|
General medical history
Time Frame: 12 months
|
Patient reported general medical history.
|
12 months
|
Medication use
Time Frame: 12 months
|
Patient reported medical use.
|
12 months
|
Quality of life questionnaire (non-validated)
Time Frame: 12 months
|
Patient reported quality of life
|
12 months
|
Level of physical activity
Time Frame: 12 months
|
Patient reported level of physical activity
|
12 months
|
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
|
12 months
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Volker Straub, MD, PhD, John Walton Muscular Dystrophy Research Centre
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 13/NE/0123
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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