International GNE Myopathy Patient Registry

Newcastle University

Status: Unknown

Conditions: GNE Myopathy; Hereditary Inclusion Body Myopathy

Treatments: Other: Patient Registry

Study type: Observational

Funder types: Other

Identifiers

NCT04009226

13/NE/0123

Details and patient eligibility

About

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.

Full 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

Enrollment: 430 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

430 participants in 1 patient group

Participants with GNE

Treatment:

Other: Patient Registry