International GNE Myopathy Patient Registry

Study Overview
=================
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

Official Title
-----------------
International GNE Myopathy Patient Registry (GNE001)

Conditions
-----------------
GNE Myopathy, Hereditary Inclusion Body Myopathy

Intervention / Treatment
-----------------
* Other: Patient Registry


Participation Criteria
=================
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

Ages Eligible for Study
-----------------
Minimum Age: 18 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Participants with GNE<br> | Other: Patient Registry<br>* Participants who have volunteered to participate will complete various questionnaires relating to their condition.<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
Distal Myopathies, Neuromuscular Diseases, Muscular Dystrophies, GNE Myopathy, Hereditary Inclusion Body Myopathy