GNE MyopathyPhase 2NCT01830972
An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy
A Phase 2 study testing SA-ER 500 mg and SA-IR 500 mg in people with GNE Myopathy and Hereditary Inclusion Body Myopathy (HIBM), run by Ultragenyx Pharmaceutical Inc at 4 sites in 2 countries.
Trial summary
The safety objectives of the study are to: evaluate additional long-term safety of SA-ER treatment of participants with GNE myopathy previously treated with SA-ER at dose of 6g/day (Part I); evaluate the safety of 12g /day SA (delivered by 1.5g of SA-ER tablets and 1.5g of SA-IR capsules 4 times per day) in the… Read more about this study
- Who is it for?
- Ages 18 to 65 years
- Conditions the study is for
- GNE Myopathy, Hereditary Inclusion Body Myopathy (HIBM)
- What is being tested?
- SA-ER 500 mg and SA-IR 500 mg
- Type of treatment
- Pill or oral medicine, Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 59 participants
- Where
- 4 sitesin 2 countries
- Study dates
- 4 Jun 2013to 14 Feb 2017
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Enrollment in, and successful completion of the UX001-CL201 (NCT01517880) protocol OR (for 10 treatment naïve subjects):
- Have a confirmed diagnosis of GNE Myopathy
- Aged 18 -65 years of age, inclusive
- Able to walk ≥ 200 meters and < 80% of predicted normal during the 6-Minute Walk Test (6MWT; orthotics and assistive devices allowed)
- Must be willing and able to provide written, signed informed consent after the nature of the study has been explained, and prior to any research-related procedures
- Must be willing and able to comply with all study procedures
- Sexually active subjects must be willing to use an acceptable method of contraception while participating in the study
- Females of childbearing potential must have a negative pregnancy test at Baseline and be willing to have additional pregnancy tests during the study. Females considered not of childbearing potential include those who have been in menopause for at least two years, or have had tubal ligation at least one year prior to Baseline, or who have had total hysterectomy
Who cannot join
- Use of any investigational product (other than SA-ER tablets) to treat GNE myopathy
- Ingestion of N-acetyl-D-mannosamine (ManNAc) or similar SA-producing compounds
- Pregnant or breastfeeding at Baseline or planning to become pregnant (self or partner) at any time during the study
- Has had any hypersensitivity to SA or its excipients that, in the judgment of the investigator, places the subject at increased risk for adverse effects
- Have any co-morbid conditions, including unstable major organ-system disease(s) that in the opinion of the investigator, places the subject at increased risk of complications, interferes with study participation or compliance, or confounds study objectives.
Trial locations and contacts
4 sites in 2 countries.
4 sites in 2 countries
United States3 sites
UCLA Medical Center
Los Angeles, California, 90095
NYU Medical Center
New York, New York, 10016
Washington University School of Medicine
St Louis, Missouri, 63110
About this study
Official title: An Open-label Phase 2 Extension Study to Evaluate the Long Term Safety and Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy
The safety objectives of the study are to: evaluate additional long-term safety of SA-ER treatment of participants with GNE myopathy previously treated with SA-ER at dose of 6g/day (Part I); evaluate the safety of 12g /day SA (delivered by 1.5g of SA-ER tablets and 1.5g of SA-IR capsules 4 times per day) in the treatment of participants with GNE myopathy (Part II) over a 6 month treatment period; evaluate the safety of SA treatment at both 6g/day and 12 g/day (Part III [SA-ER/SA-IR] and Part IV [SA-ER]).
- Being tested
- SA-ER 500 mg, SA-IR 500 mg
- Medical subject headings
- Distal myopathy, Nonaka type
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
SA-ER 500 mgDrug
oral tablets
SA-IR 500 mgDrug
oral capsules
| Study group | Role | What they receive |
|---|---|---|
| Crossover Participants | Experimental | Participants completing the 48-week study (UX001-CL201; NCT01517880) were enrolled into Part I of the study:
* Part I: participants continued on 6 g/day SA-ER for 12 weeks
* Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
* Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
* Part IV: 6 g/day or 12 g/day SA (SA-ER only) Receives: Drug: SA-ER 500 mg; Drug: SA-IR 500 mg |
| Naïve Participants | Experimental | Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:
* Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
* Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
* Part IV: 6 g/day or 12 g/day SA (SA-ER only) Receives: Drug: SA-ER 500 mg; Drug: SA-IR 500 mg |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation
An adverse event (AE) is defined as any untoward medical occurrence, whether or not considered drug related. A serious AE (SAE) is an AE that at any dose results in any of the following: death, a life-threatening AE; inpatient hospitalization or prolongation of existing hospitalization; persistent or significant incapacity or substantial disruption of the ability to conduct normal life functions; a congenital anomaly/birth defect. TEAEs include all adverse events that start on or after the first dose of study medication, or adverse events that are present prior to the first dose of study medication, but their severity or relationship increases after the first dose of study medication up to and including 30 days after the final study medication dosing date. TEAEs were graded as mild (grade 1), moderate (grade 2), severe (grade 3), life-threatening (grade 4), or death (grade 5). TEAE relationship to study medication was classified as not related, possibly related, or probably related.
Measured: From first dose of study drug until up to 30 days after the last dose of study drug. Mean (SD) duration of treatment was 1170.0 (170.2) days for Crossover Participants and 897 (380) days for Naïve Participants
Clinically Significant Changes From Baseline in Vital Signs, Physical and Neurological Examination Findings and Laboratory Evaluations
Measured: From first dose of study drug until up to 30 days after the last dose of study drug. Mean (SD) duration of treatment was 1170.0 (170.2) days for Crossover Participants and 897 (380) days for Naïve Participants
Interval History: Has the Participant Experienced Any New Conditions or Exacerbations of an Existing Condition Since Last Study Visit?
Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Measured: Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 3, 6, 9, 12, 15, 18, 21, 24, 27, 33, 36, study termination
Interval History: Has the Participant Started Taking Any New Medications or Discontinued Any Medications Since the Study Visit?
Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Measured: Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 3, 6, 9, 12, 15, 18, 21, 24, 27, 33, 36, study termination
Interval History: Has the Participant Started Receiving Any New Therapy or Discontinued Any Therapies Since Last Study Visit?
Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Measured: Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 3, 6, 9, 12, 15, 18, 21, 24, 27, 33, 36, study termination
Interval History: Typical Number of Falls Per Year
Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Measured: Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 6, 12, 18, 24, 30, 36, study termination
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Apr 2013 (estimated)
- Study start4 Jun 2013
- Primary completion14 Feb 2017
- Study completion14 Feb 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for GNE 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
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Crossover
- Masking
- None (open label)
- Enrolment
- 59 participants (actual)
Sponsor and investigators
- Lead sponsor
- Ultragenyx Pharmaceutical Inc
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01830972
- Sponsor's protocol ID
- UX001-CL202
- Status last verified
- Mar 2018
- First submitted
- 10 Apr 2013
- Last updated
- 11 Apr 2018
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Apr 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-label Phase 2 Extension Study to Evaluate the Long Term Safety and Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy
- ClinicalTrials.gov ID
- NCT01830972
- Acronym / sponsor ID
- UX001-CL202
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 59 participants (actual)
- Lead sponsor
- Ultragenyx Pharmaceutical IncIndustry (pharma, biotech, devices)
- Study start
- 4 Jun 2013 (actual)
- Primary completion
- 14 Feb 2017 (actual)
- Study completion
- 14 Feb 2017 (actual)
- First posted
- 12 Apr 2013 (estimated)
- Results
- Posted 13 Mar 2018
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The safety objectives of the study are to: evaluate additional long-term safety of SA-ER treatment of participants with GNE myopathy previously treated with SA-ER at dose of 6g/day (Part I); evaluate the safety of 12g /day SA (delivered by 1.5g of SA-ER tablets and 1.5g of SA-IR capsules 4 times per day) in the treatment of participants with GNE myopathy (Part II) over a 6 month treatment period; evaluate the safety of SA treatment at both 6g/day and 12 g/day (Part III [SA-ER/SA-IR] and Part IV [SA-ER]).
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Crossover
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Crossover Participants | Experimental | Drug: SA-ER 500 mg, Drug: SA-IR 500 mgParticipants completing the 48-week study (UX001-CL201; NCT01517880) were enrolled into Part I of the study: * Part I: participants continued on 6 g/day SA-ER for 12 weeks * Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months * Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR) * Part IV: 6 g/day or 12 g/day SA (SA-ER only) |
| Naïve Participants | Experimental | Drug: SA-ER 500 mg, Drug: SA-IR 500 mgTreatment naïve participants with GNE myopathy were enrolled into Part II of the study: * Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months * Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR) * Part IV: 6 g/day or 12 g/day SA (SA-ER only) |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (8 listed)
- Enrollment in, and successful completion of the UX001-CL201 (NCT01517880) protocol OR (for 10 treatment naïve subjects):
- Must be willing and able to provide written, signed informed consent after the nature of the study has been explained, and prior to any research-related procedures
- Must be willing and able to comply with all study procedures
- Sexually active subjects must be willing to use an acceptable method of contraception while participating in the study
- Females of childbearing potential must have a negative pregnancy test at Baseline and be willing to have additional pregnancy tests during the study. Females considered not of childbearing potential include those who have been in menopause for at least two years, or have had tubal ligation at least one year prior to Baseline, or who have had total hysterectomy
Key exclusion criteria (5 listed)
- Use of any investigational product (other than SA-ER tablets) to treat GNE myopathy
- Ingestion of N-acetyl-D-mannosamine (ManNAc) or similar SA-producing compounds
- Pregnant or breastfeeding at Baseline or planning to become pregnant (self or partner) at any time during the study
- Has had any hypersensitivity to SA or its excipients that, in the judgment of the investigator, places the subject at increased risk for adverse effects
- Have any co-morbid conditions, including unstable major organ-system disease(s) that in the opinion of the investigator, places the subject at increased risk of complications, interferes with study participation or compliance, or confounds study objectives.
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 |
|---|---|---|
| SA-ER 500 mgoral tablets | Drug | Crossover Participants, Naïve Participants |
| SA-IR 500 mgoral capsules | Drug | Crossover Participants, Naïve Participants |
Primary outcome
Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation
Time frame: From first dose of study drug until up to 30 days after the last dose of study drug. Mean (SD) duration of treatment was 1170.0 (170.2) days for Crossover Participants and 897 (380) days for Naïve Participants
An adverse event (AE) is defined as any untoward medical occurrence, whether or not considered drug related. A serious AE (SAE) is an AE that at any dose results in any of the following: death, a life-threatening AE; inpatient hospitalization or prolongation of existing hospitalization; persistent or significant incapacity or substantial disruption of the ability to conduct normal life functions; a congenital anomaly/birth defect. TEAEs include all adverse events that start on or after the first dose of study medication, or adverse events that are present prior to the first dose of study medication, but their severity or relationship increases after the first dose of study medication up to and including 30 days after the final study medication dosing date. TEAEs were graded as mild (grade 1), moderate (grade 2), severe (grade 3), life-threatening (grade 4), or death (grade 5). TEAE relationship to study medication was classified as not related, possibly related, or probably related.
Clinically Significant Changes From Baseline in Vital Signs, Physical and Neurological Examination Findings and Laboratory Evaluations
Time frame: From first dose of study drug until up to 30 days after the last dose of study drug. Mean (SD) duration of treatment was 1170.0 (170.2) days for Crossover Participants and 897 (380) days for Naïve Participants
Interval History: Has the Participant Experienced Any New Conditions or Exacerbations of an Existing Condition Since Last Study Visit?
Time frame: Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 3, 6, 9, 12, 15, 18, 21, 24, 27, 33, 36, study termination
Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Interval History: Has the Participant Started Taking Any New Medications or Discontinued Any Medications Since the Study Visit?
Time frame: Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 3, 6, 9, 12, 15, 18, 21, 24, 27, 33, 36, study termination
Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Interval History: Has the Participant Started Receiving Any New Therapy or Discontinued Any Therapies Since Last Study Visit?
Time frame: Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 3, 6, 9, 12, 15, 18, 21, 24, 27, 33, 36, study termination
Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Interval History: Typical Number of Falls Per Year
Time frame: Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 6, 12, 18, 24, 30, 36, study termination
Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Apr 2018.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
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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.
4 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing SA-ER 500 mg and SA-IR 500 mg in people with GNE Myopathy and Hereditary Inclusion Body Myopathy (HIBM), run by Ultragenyx Pharmaceutical Inc at 4 sites in 2 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 8 inclusion and 5 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 11 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 4 sites in United States, Israel. 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.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 13 Mar 2018). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation (time frame: From first dose of study drug until up to 30 days after the last dose of study drug. Mean (SD) duration of treatment was 1170.0 (170.2) days for Crossover Participants and 897 (380) days for Naïve Participants). 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 11 Apr 2018.