HIBMClinBio-GNENCT02196909
Clinical, Biological and NMR Outcome Measures Study for Hereditary Inclusion Body Myopathy Due to Mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine Kinase Gene (GNE)
A study testing motor function and strength assessment, NMR assessment and 24h urine and serum collection in people with HIBM, run by Institut de Myologie, France at 1 site in France.
Trial summary
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches. Read more about this study
- Who is it for?
- Ages 18 to 65 yearsHealthy volunteers can take part
- Conditions the study is for
- HIBM
- What is being tested?
- motor function and strength assessment, NMR assessment and 24h urine and serum collection
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteFrance
- Study dates
- Jul 2014to May 2018
- Phase
- Interventional
- 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 to 65 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Must be at least 18 years of age.
- Must be willing and able to provide consent.
- Must have a genetic diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.
- Must be willing and able to comply with all study requirements.
- Affiliated to or a beneficiary of a social security category
- Must take part in the HIBM-PMP UX001-CL401 study
Who cannot join
- Received ManNAc therapy or other similar substance
- Any unrelated, comorbid disease or condition that, in the view of the investigator, would interfere with study participation or would affect safety.
- Patients with specific contraindication to MRI (i.e. metallic foreign body, claustrophobia…) will be allowed to participate, but MRI will not be performed.
- Pregnant women.
Trial locations and contacts
1 site in 1 country.
About this study
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.
- Conditions
- HIBM
- Being tested
- motor function and strength assessment, NMR assessment, 24h urine and serum collection
- Keywords
- HIBM, GNE
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
motor function and strength assessmentOther
NMR assessmentOther
24h urine and serum collectionOther
| Study group | Role | What they receive |
|---|---|---|
| HIBM patient | Active comparator | motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually Receives: Other: motor function and strength assessment; Other: NMR assessment; Other: 24h urine and serum collection |
| Controls | Active comparator | motor function, muscle strength, 24h urine and serum collections at baseline only Receives: Other: motor function and strength assessment; Other: 24h urine and serum collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Measure of changes in motor function and muscle strength assessment between 2 time points
Measured: baseline, 1 year, 2 years, 3 years
Measure of changes in NMR upper and lower limbs assessment between 2 timepoints(not for controls)
Measured: baseline, 1 year, 2 years, 3 years
24h urine and serum collection, measures at different time points
Measured: baseline, 1 year, 2 years, 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jul 2014 (estimated)
- Study startJul 2014
- Primary completionMay 2018
- Study completionMay 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HIBMStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- Institut de Myologie, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02196909
- Sponsor's protocol ID
- ClinBio-GNE
- Acronym
- ClinBio-GNE
- Status last verified
- Aug 2018
- First submitted
- 8 Apr 2014
- Last updated
- 8 Aug 2018
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Aug 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical, Biological and NMR Outcome Measures Study for Hereditary Inclusion Body Myopathy Due to Mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine Kinase Gene (GNE)
- ClinicalTrials.gov ID
- NCT02196909
- Acronym / sponsor ID
- ClinBio-GNE / ClinBio-GNE
- Conditions
- HIBM
- Keywords
- HIBM, GNE
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Institut de Myologie, FranceUniversity, hospital or other
- Study start
- Jul 2014 (actual)
- Primary completion
- May 2018 (actual)
- Study completion
- May 2018 (actual)
- First posted
- 22 Jul 2014 (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.
The objective of the study is to identify the best clinical and biological outcome measures for further therapeutics approaches.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| HIBM patient | Active comparator | Other: motor function and strength assessment, Other: NMR assessment, Other: 24h urine and serum collectionmotor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually |
| Controls | Active comparator | Other: motor function and strength assessment, Other: 24h urine and serum collectionmotor function, muscle strength, 24h urine and serum collections at baseline only |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- Must be at least 18 years of age.
- Must be willing and able to provide consent.
- Must have a genetic diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease.
- Must be willing and able to comply with all study requirements.
- Affiliated to or a beneficiary of a social security category
Key exclusion criteria (4 listed)
- Received ManNAc therapy or other similar substance
- Any unrelated, comorbid disease or condition that, in the view of the investigator, would interfere with study participation or would affect safety.
- Patients with specific contraindication to MRI (i.e. metallic foreign body, claustrophobia…) will be allowed to participate, but MRI will not be performed.
- Pregnant women.
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 |
|---|---|---|
| motor function and strength assessment | Other | Controls, HIBM patient |
| NMR assessment | Other | HIBM patient |
| 24h urine and serum collection | Other | Controls, HIBM patient |
Primary outcome
Measure of changes in motor function and muscle strength assessment between 2 time points
Time frame: baseline, 1 year, 2 years, 3 years
Measure of changes in NMR upper and lower limbs assessment between 2 timepoints(not for controls)
Time frame: baseline, 1 year, 2 years, 3 years
24h urine and serum collection, measures at different time points
Time frame: baseline, 1 year, 2 years, 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 8 Aug 2018.
Related trials for HIBM
RecruitingPhase 1/2
First-in-human Study of UX016 in GNEM
GNE Myopathy
Active, not recruitingPhase 2
Multi-Center Study of ManNAc for GNE Myopathy
GNE Myopathy
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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing motor function and strength assessment, NMR assessment and 24h urine and serum collection in people with HIBM, run by Institut de Myologie, France at 1 site in France.
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 6 inclusion and 4 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 8 Aug 2018. 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 France. 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?
Measure of changes in motor function and muscle strength assessment between 2 time points (time frame: baseline, 1 year, 2 years, 3 years). The study lists 3 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 8 Aug 2018.