International GNE Myopathy Patient Registry

• Conditions: GNE Myopathy; Hereditary Inclusion Body Myopathy
• Interventions: Other: Patient Registry

• Registration Number: NCT04009226
• Lead Sponsor: Newcastle University

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

Study Timeline

• Study Start: 2014-03
• Study First Submitted: 2019-06-25
• Status Verified: 2019-07
• Study First Submitted QC: 2019-07-03
• Study First Posted: 2019-07-05
• Last Update Submitted: 2020-10-05
• Last Update Posted: 2020-10-06
• Primary Completion: 2021-12
• Study Completion: 2021-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 430

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Participants with GNE	Patient Registry	-

Primary Outcome Measures

Name	Time	Method
General medical history	12 months	Patient reported general medical history.
Medication use	12 months	Patient reported medical use.
Level of physical activity	12 months	Patient reported level of physical activity
Disease history	12 months	Patient reported disease history including GNE myopathy diagnosis.
Quality of life questionnaire (non-validated)	12 months	Patient reported quality of life
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

Trial Locations

Locations (1)

John Walton Muscular Dystrophy Research Centre; 🇬🇧 Newcastle Upon Tyne, United Kingdom