International GNE Myopathy Patient Registry

NCT ID: NCT04009226

Last Updated: 2020-10-06

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 430 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2014-03-31
• Study Completion Date: 2021-12-31

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

Conditions

GNE Myopathy; Hereditary Inclusion Body Myopathy

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Participants with GNE

Patient Registry

Intervention Type: OTHER

Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Interventions

Patient Registry

Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Intervention Type: OTHER

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Newcastle University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Volker Straub, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

John Walton Muscular Dystrophy Research Centre

Locations

John Walton Muscular Dystrophy Research Centre

Newcastle upon Tyne, , United Kingdom

Site Status: RECRUITING

Countries

United Kingdom

Central Contacts

Registry Curator

Role: CONTACT

lucy.imber@newcastle.ac.uk

0191 2418605

Facility Contacts

Registry Curator

Role: primary

lucy.imber@newcastle.ac.uk

0191 2418605

Other Identifiers

13/NE/0123

Identifier Type: -

Identifier Source: org_study_id