Clinical trial NCT04009226: International GNE Myopathy Patient Registry
Official title: International GNE Myopathy Patient Registry (GNE001)
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: GNE Myopathy
Hereditary Inclusion Body Myopathy
Keywords: Distal Myopathies
Neuromuscular Diseases
Muscular Dystrophies
GNE Myopathy
Hereditary Inclusion Body Myopathy
Lead sponsor: Newcastle University
Sponsor class: OTHER
First posted: 2019-07-05
Enrollment: 430
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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)

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.

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

Eligibility 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

Primary outcomes:
measure: Disease history
timeFrame: 12 months
measure: General medical history
timeFrame: 12 months
measure: Medication use
timeFrame: 12 months
measure: Quality of life questionnaire (non-validated)
timeFrame: 12 months
measure: Level of physical activity
timeFrame: 12 months
measure: Muscle biopsy and genetic testing status
timeFrame: 12 months
Secondary outcomes:
Other outcomes:
Locations:
city: Newcastle Upon Tyne
country: United Kingdom
facility: John Walton Muscular Dystrophy Research Centre
Study officials:
affiliation: John Walton Muscular Dystrophy Research Centre
name: Volker Straub, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: