International GNE Myopathy Patient Registry

GNE Myopathy Clinical Trial

Official title:

International GNE Myopathy Patient Registry (GNE001)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04009226
• Other study ID #: 13/NE/0123
• Status: Recruiting
• Start date: March 2014
• Est. completion date: December 2021

Study information

• Verified date: July 2019
• Source: Newcastle University
• Contact: Registry Curator
• Phone: 0191 2418605
• Email: lucy.imber[@]newcastle.ac.uk
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 430
• Est. completion date: December 2021
• Est. primary completion date: December 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• GNE Myopathy
• Hereditary Inclusion Body Myopathy
• Muscular Diseases

Intervention

Other:
• Patient Registry
Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Locations

Country	Name	City	State
United Kingdom	John Walton Muscular Dystrophy Research Centre	Newcastle Upon Tyne

Sponsors (1)

Lead Sponsor	Collaborator
Newcastle University

Country where clinical trial is conducted

United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Disease history	Patient reported disease history including GNE myopathy diagnosis.	12 months
Primary	General medical history	Patient reported general medical history.	12 months
Primary	Medication use	Patient reported medical use.	12 months
Primary	Quality of life questionnaire (non-validated)	Patient reported quality of life	12 months
Primary	Level of physical activity	Patient reported level of physical activity	12 months
Primary	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