GNE MyopathyNCT04009226
International GNE Myopathy Patient Registry
An observational study of GNE Myopathy and Hereditary Inclusion Body Myopathy, run by Newcastle University at 1 site in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- GNE Myopathy, Hereditary Inclusion Body Myopathy
- What is being tested?
- Patient Registry
- How many people
- 430 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- Mar 2014to Dec 2021
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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)
Who may be able to join
- 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.
Who cannot join
- Under 18 years of age
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site
John Walton Muscular Dystrophy Research Centre
Newcastle upon Tyne, NE1 3BZ
About this study
Official title: International GNE Myopathy Patient Registry (GNE001)
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.
Read the 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
- Conditions
- GNE Myopathy, Hereditary Inclusion Body Myopathy
- Being tested
- Patient Registry
- Keywords
- Distal Myopathies, Neuromuscular Diseases, Muscular Dystrophies, GNE Myopathy, Hereditary Inclusion Body Myopathy
- Medical subject headings
- Distal myopathy, Nonaka type, Distal Myopathies, Neuromuscular Diseases, Muscular Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Patient RegistryOther
Participants who have volunteered to participate will complete various questionnaires relating to their condition.
| Study group | Role | What they receive |
|---|---|---|
| Participants with GNE | Not described Receives: Other: Patient Registry |
What is being measured
The primary outcome is the main question the study is designed to answer.
Disease history
Patient reported disease history including GNE myopathy diagnosis.
Measured: 12 months
General medical history
Patient reported general medical history.
Measured: 12 months
Medication use
Patient reported medical use.
Measured: 12 months
Quality of life questionnaire (non-validated)
Patient reported quality of life
Measured: 12 months
Level of physical activity
Patient reported level of physical activity
Measured: 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
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jul 2019
- Study startMar 2014
- Primary completionDec 2021
- Study completionDec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for GNE MyopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 430 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Newcastle University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Volker Straub, MD, PhD, Principal investigator, John Walton Muscular Dystrophy Research Centre
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04009226
- Sponsor's protocol ID
- 13/NE/0123
- Status last verified
- Aug 2026
- First submitted
- 25 Jun 2019
- Last updated
- 17 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- International GNE Myopathy Patient Registry (GNE001)
- ClinicalTrials.gov ID
- NCT04009226
- Acronym / sponsor ID
- 13/NE/0123
- Conditions
- GNE Myopathy, Hereditary Inclusion Body Myopathy
- Keywords
- Distal Myopathies, Neuromuscular Diseases, Muscular Dystrophies, GNE Myopathy, Hereditary Inclusion Body Myopathy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 430 participants (estimated)
- Lead sponsor
- Newcastle UniversityUniversity, hospital or other
- Study start
- Mar 2014 (actual)
- Primary completion
- Dec 2021 (actual)
- Study completion
- Dec 2021 (actual)
- First posted
- 5 Jul 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with GNE | – | Other: Patient Registry |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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)
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- Under 18 years of age
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Patient RegistryParticipants who have volunteered to participate will complete various questionnaires relating to their condition. | Other | Participants with GNE |
Primary outcome
Disease history
Time frame: 12 months
Patient reported disease history including GNE myopathy diagnosis.
General medical history
Time frame: 12 months
Patient reported general medical history.
Medication use
Time frame: 12 months
Patient reported medical use.
Quality of life questionnaire (non-validated)
Time frame: 12 months
Patient reported quality of life
Level of physical activity
Time frame: 12 months
Patient reported level of physical activity
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Aug 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Volker Straub, MD, PhD principal investigator
John Walton Muscular Dystrophy Research Centre
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of GNE Myopathy and Hereditary Inclusion Body Myopathy, run by Newcastle University at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 17 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease history (time frame: 12 months). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Aug 2026.