Hereditary Inclusion Body MyopathyNCT01784679
GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)
An observational study of Hereditary Inclusion Body Myopathy and GNE Myopathy, run by Ultragenyx Pharmaceutical Inc at 5 sites in 5 countries.
Trial summary
HIBM 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?
- Any age
- Conditions the study is for
- Hereditary Inclusion Body Myopathy, GNE Myopathy, Nonaka Disease
- How many people
- 319 participants
- Where
- 5 sitesin 5 countries
- Study dates
- 5 Apr 2013to 30 Nov 2017
- How long will I take part?
- 15 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Must have a diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.
Who may be able to join
- Must be willing and able to provide electronic consent to release access to medical information to the study sponsor or its agents
- Must have a diagnosis of GNEM, HIBM, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease. (Genotyping will not be required for the GNEM Disease Registry and will not be conducted in this protocol. However, when available, genotypes of disease registry subjects should be provided and all subjects will be encouraged to be genotyped during the course of the disease registry through independent programs.)
- Must be willing and able to comply with all study procedures.
- Must meet all of the inclusion criteria for the GNEM Disease Registry portion of the study.
- Must be willing to have their collected information used as part of the GNEM Disease Registry.
- Must provide a genotype confirming GNE disease. Genotyping will not be conducted as part of this protocol, so GNE disease genotype data must be provided by the subject/physician from other sources.
- In the opinion of the investigator, the subject will be complaint with study visit schedule and study procedures.
Who cannot join
- For Natural History Component, concurrent disease or condition that, in the view of the investigator, would interfere with study participation or would affect safety.
- For Online Registry Component, there are no exclusion criteria.
Trial locations and contacts
5 sites in 5 countries.
5 sites in 5 countries
United States1 site
University of California, Irvine
Irvine, California, 92697
United Kingdom1 site
The Newcastle upon Tyne Hospitals
Newcastle upon Tyne, Tyne and Wear, NE1 4LP
About this study
HIBM 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 better understand the disease-specific features of HIBM to heighten disease awareness; facilitate early diagnosis; identify patients; expand knowledge of the clinical presentation, progression and variation of the disease; identify and validate biomarkers and other efficacy measures; inform on the design and interpretation of clinical studies of investigational products; and eventually to optimize patient management.
Read the detailed description
The main objective of this program is to better understand HIBM.
The specific HIBM Disease Registry's objectives are to:
- Understand the geographic distribution and regional incidence/prevalence of GNEM.
- Obtain an assessment of the medical history, clinical presentation and progression of disease in GNEM patients and provide a connection for subjects to the broader GNEM community and associated programs.
- Provide customized information to subjects and their physicians that desire information on their disease status and progression.
The specific HIBM Natural History Study's objectives are to:
- Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function.
- Obtain information to better characterize quality of life and understand the timing of significant life changing events in HIBM patients using patient-reported outcomes.
- Identify biomarkers and efficacy measures for use as endpoints in future clinical studies.
- Conditions
- Hereditary Inclusion Body Myopathy, GNE Myopathy, Nonaka Disease, Quadriceps Sparing Myopathy (QSM), Distal Myopathy With Rimmed Vacuoles (DMRV)
- Keywords
- Hereditary Inclusion Body Myopathy, GNE Myopathy, Nonaka Disease, Quadriceps Sparing Myopathy, distal myopathy with rimmed vacuoles, ultragenyx, rare disease
- Medical subject headings
- Distal myopathy, Nonaka type, Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Natural History Prospective Observational Group | Not described | |
| Online Registry Patient Reported Group | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function.
Measured: 3 years
Secondary outcomes (1)
Obtain information to better characterize quality of life and understand the timing of significant life changing events in HIBM patients using patient-reported outcomes.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Feb 2013 (estimated)
- Study start5 Apr 2013
- Primary completion30 Nov 2017
- Study completion30 Nov 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Inclusion Body MyopathyStudies of the same condition, open and under way.
- More trials run by Ultragenyx Pharmaceutical IncThe sponsor's other registered studies.
- 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
- Other
- Time perspective
- Prospective
- Enrolment
- 319 participants (actual)
- Target duration
- 15 Years
Sponsor and investigators
- Lead sponsor
- Ultragenyx Pharmaceutical Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Newcastle University
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01784679
- Sponsor's protocol ID
- UX001-CL401
- Status last verified
- Apr 2018
- First submitted
- 4 Feb 2013
- Last updated
- 27 Apr 2018
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Apr 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)
- ClinicalTrials.gov ID
- NCT01784679
- Acronym / sponsor ID
- UX001-CL401
- Conditions
- Hereditary Inclusion Body Myopathy, GNE Myopathy, Nonaka Disease, Quadriceps Sparing Myopathy (QSM), Distal Myopathy With Rimmed Vacuoles (DMRV)
- Keywords
- Hereditary Inclusion Body Myopathy, GNE Myopathy, Nonaka Disease, Quadriceps Sparing Myopathy, distal myopathy with rimmed vacuoles, ultragenyx, rare disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 319 participants (actual)
- Lead sponsor
- Ultragenyx Pharmaceutical IncIndustry (pharma, biotech, devices)
- Collaborators
- Newcastle University
- Study start
- 5 Apr 2013 (actual)
- Primary completion
- 30 Nov 2017 (actual)
- Study completion
- 30 Nov 2017 (actual)
- First posted
- 6 Feb 2013 (estimated)
- 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.
HIBM 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 better understand the disease-specific features of HIBM to heighten disease awareness; facilitate early diagnosis; identify patients; expand knowledge of the clinical presentation, progression and variation of the disease; identify and validate biomarkers and other efficacy measures; inform on the design and interpretation of clinical studies of investigational products; and eventually to optimize patient management.
Detailed description
The main objective of this program is to better understand HIBM.
The specific HIBM Disease Registry's objectives are to:
- Understand the geographic distribution and regional incidence/prevalence of GNEM.
- Obtain an assessment of the medical history, clinical presentation and progression of disease in GNEM patients and provide a connection for subjects to the broader GNEM community and associated programs.
- Provide customized information to subjects and their physicians that desire information on their disease status and progression.
The specific HIBM Natural History Study's objectives are to:
- Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function.
- Obtain information to better characterize quality of life and understand the timing of significant life changing events in HIBM patients using patient-reported outcomes.
- Identify biomarkers and efficacy measures for use as endpoints in future clinical studies.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Target follow-up
- 15 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Natural History Prospective Observational Group | – | – |
| Online Registry Patient Reported Group | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Must have a diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.
Key inclusion criteria (7 listed)
- Must be willing and able to provide electronic consent to release access to medical information to the study sponsor or its agents
- Must have a diagnosis of GNEM, HIBM, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease. (Genotyping will not be required for the GNEM Disease Registry and will not be conducted in this protocol. However, when available, genotypes of disease registry subjects should be provided and all subjects will be encouraged to be genotyped during the course of the disease registry through independent programs.)
- Must be willing and able to comply with all study procedures.
- Must meet all of the inclusion criteria for the GNEM Disease Registry portion of the study.
- Must be willing to have their collected information used as part of the GNEM Disease Registry.
Key exclusion criteria (2 listed)
- For Natural History Component, concurrent disease or condition that, in the view of the investigator, would interfere with study participation or would affect safety.
- For Online Registry Component, there are no exclusion criteria.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function.
Time frame: 3 years
1 secondary outcome
Obtain information to better characterize quality of life and understand the timing of significant life changing events in HIBM patients using patient-reported outcomes.
Time frame: 3 years
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 27 Apr 2018.
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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.
The record lists no contact. Use the official record to reach the sponsor.
5 sites in 5 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Inclusion Body Myopathy and GNE Myopathy, run by Ultragenyx Pharmaceutical Inc at 5 sites in 5 countries.
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 7 inclusion and 2 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 27 Apr 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States, Bulgaria, Canada, France, 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?
Characterize HIBM disease presentation and progression over time using relevant clinical assessments of muscle strength and function. (time frame: 3 years). 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 27 Apr 2018.