International GNE Myopathy Patient Registry

NCT04009226 | Unknown

• 1 other identifier: 13/NE/0123
• Study Type: observational
• Target: 430
• Locations: 1 country
• Sites: 1

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.

Conditions

GNE Myopathy; Hereditary Inclusion Body Myopathy

Keywords

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

Outcome Measures

Primary Outcomes (6)

• Disease history

  Patient reported disease history including GNE myopathy diagnosis.

  12 months

• General medical history

  Patient reported general medical history.

  12 months

• Medication use

  Patient reported medical use.

  12 months

• Quality of life questionnaire (non-validated)

  Patient reported quality of life

  12 months

• Level of physical activity

  Patient reported level of physical activity

  12 months

• 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

Study Arms (1)

Participants with GNE

Other: Patient Registry

Interventions

Patient Registry OTHER

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

Participants with GNE

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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)

You may qualify if:

• Aged 18 years or older at the time of informed consent
• Willing and able to provided electronic (or written) consent and comply with all study requirements.

You may not qualify if:

• Under 18 years of age

Sponsors & Collaborators

• Newcastle University: lead

Study Sites (1)

John Walton Muscular Dystrophy Research Centre

Newcastle upon Tyne, NE1 3BZ, United Kingdom

RECRUITING

MeSH Terms

Conditions

Distal myopathy, Nonaka type; Distal Myopathies; Neuromuscular Diseases; Muscular Dystrophies

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Volker Straub, MD, PhD

  John Walton Muscular Dystrophy Research Centre

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Registry Curator

CONTACT

0191 2418605; lucy.imber@newcastle.ac.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 25, 2019
• First Posted: July 5, 2019
• Study Start: March 1, 2014
• Primary Completion: December 1, 2021
• Study Completion: December 1, 2021
• Last Updated: October 6, 2020

Record last verified: 2019-07

Locations

GB (1)