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Completed

NCT Number: NCT04009226

International GNE Myopathy Patient Registry

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.

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Key information

Conditions

GNE Myopathy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Distal Myopathies Distal myopathy, Nonaka type Genetic Diseases, Inborn Hereditary Inclusion Body Myopathy Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

John Walton Muscular Dystrophy Research Centre

Newcastle upon Tyne, NE1 3BZ, United Kingdom

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Patient Registry

Other

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

Primary outcomes

  1. Disease history

    Time frame: 12 months

    Patient reported disease history including GNE myopathy diagnosis.

  2. General medical history

    Time frame: 12 months

    Patient reported general medical history.

  3. Medication use

    Time frame: 12 months

    Patient reported medical use.

  4. Quality of life questionnaire (non-validated)

    Time frame: 12 months

    Patient reported quality of life

  5. Level of physical activity

    Time frame: 12 months

    Patient reported level of physical activity

  6. Muscle biopsy and genetic testing status

    Time frame: 12 months

    Patient reported history of muscle biopsy and details of whether they have undergone genetic testing for GNE myopathy

Sponsors and collaborators

Lead sponsor

Newcastle University

Other

Registry information

Official study title

International GNE Myopathy Patient Registry (GNE001)

Important dates

Study start
2014
Primary completion
2021
Study completion
2021
First posted
Jul 5, 2019
Registry last updated
Aug 17, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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