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International GNE Myopathy Patient Registry

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ClinicalTrials.gov Identifier: NCT04009226
Recruitment Status : Recruiting
First Posted : July 4, 2019
Last Update Posted : July 4, 2019
Sponsor:
Information provided by (Responsible Party):
Newcastle University

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

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 350 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 2020
Estimated Study Completion Date : December 2020


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




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



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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04009226


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

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

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Responsible Party: Newcastle University
ClinicalTrials.gov Identifier: NCT04009226     History of Changes
Other Study ID Numbers: 13/NE/0123
First Posted: July 4, 2019    Key Record Dates
Last Update Posted: July 4, 2019
Last Verified: July 2019

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