International GNE Myopathy Patient Registry

• ClinicalTrials.gov Identifier: NCT04009226
• Recruitment Status: Unknown
• First Posted: July 5, 2019
• Sponsor: Newcastle University
• Information provided by (Responsible Party): Newcastle University

Study Description

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.

Condition or disease	Intervention/treatment
GNE Myopathy; Hereditary Inclusion Body Myopathy	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 Design

• Study Type: Observational [Patient Registry]
• Estimated Enrollment: 430 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Target Follow-Up Duration: 5 Years
• Official Title: International GNE Myopathy Patient Registry (GNE001)
• Actual Study Start Date: March 2014
• Estimated Primary Completion Date: December 2021
• Estimated Study Completion Date: December 2021

Groups and Cohorts

Group/Cohort	Intervention/treatment
Participants with GNE	Other: Patient Registry; Participants who have volunteered to participate will complete various questionnaires relating to their condition.

Outcome Measures

Primary Outcome Measures :

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

Eligibility Criteria

• Ages Eligible for Study: 18 Years and older (Adult, Older Adult)
• Sexes Eligible for Study: All
• 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)

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

Contacts and Locations

Contacts

Contact: Registry Curator; 0191 2418605; lucy.imber@newcastle.ac.uk

Locations

United Kingdom

John Walton Muscular Dystrophy Research Centre; Recruiting

Newcastle Upon Tyne, United Kingdom, NE1 3BZ

Contact: Registry Curator 0191 2418605 lucy.imber@newcastle.ac.uk

Principal Investigator: Volker Straub, MD, PhD

Sponsors and Collaborators

Newcastle University

Investigators

• Principal Investigator: Volker Straub, MD, PhD; John Walton Muscular Dystrophy Research Centre

More Information

• Responsible Party: Newcastle University
• ClinicalTrials.gov Identifier: NCT04009226
• Other Study ID Numbers: 13/NE/0123
• First Posted: July 5, 2019
• Last Update Posted: October 6, 2020
• Last Verified: July 2019

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Newcastle University:

Distal Myopathies; Neuromuscular Diseases; Muscular Dystrophies; GNE Myopathy; Hereditary Inclusion Body Myopathy

Additional relevant MeSH terms:

Muscular Diseases; Distal Myopathies; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Muscular Dystrophies; Muscular Disorders, Atrophic; Genetic Diseases, Inborn