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: Completed
• Conditions: Hereditary Inclusion Body Myopathy; GNE Myopathy
• Intervention / Treatment: Other: Patient Registry

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: Observational
• Enrollment (Estimated): 430

Contacts and Locations

Study Locations

• United Kingdom
  • Newcastle upon Tyne, United Kingdom, NE1 3BZ
    • John Walton Muscular Dystrophy Research Centre

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Must have a diagnosis of GNE myopathy (also known as HIBM, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease)

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

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Participants with GNE	Other: Patient Registry; 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	Patient reported disease history including GNE myopathy diagnosis.	12 months
General medical history	Patient reported general medical history.	12 months
Medication use	Patient reported medical use.	12 months
Quality of life questionnaire (non-validated)	Patient reported quality of life	12 months
Level of physical activity	Patient reported level of physical activity	12 months
Muscle biopsy and genetic testing status	Patient reported history of muscle biopsy and details of whether they have undergone genetic testing for GNE myopathy	12 months

Collaborators and Investigators

• Sponsor: Newcastle University
• Investigators: Principal Investigator: Volker Straub, MD, PhD, John Walton Muscular Dystrophy Research Centre

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2014
• Primary Completion (Actual): December 1, 2021
• Study Completion (Actual): December 1, 2021

Study Registration Dates

• First Submitted: June 25, 2019
• First Submitted That Met QC Criteria: July 3, 2019
• First Posted (Actual): July 5, 2019

Study Record Updates

• Last Update Posted (Actual): August 17, 2026
• Last Update Submitted That Met QC Criteria: August 13, 2026
• Last Verified: August 1, 2026

More Information

Terms related to this study

• Keywords: Neuromuscular Diseases; Muscular Dystrophies; Hereditary Inclusion Body Myopathy; GNE Myopathy; Distal Myopathies
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Genetic Diseases, Inborn; Muscular Disorders, Atrophic; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Muscular Dystrophies; Neuromuscular Diseases; Distal Myopathies; Distal myopathy, Nonaka type
• Other Study ID Numbers: 13/NE/0123

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No