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The primary objective of this Phase 2 study is to evaluate the safety of open-label 6 g/day Ace-ER in GNEM participants with severe ambulatory impairment.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Open Label UX001, 6g/day | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Aceneuramic Acid Extended-Release | Drug | oral tablets |
|
| Measure | Description | Time Frame |
|---|---|---|
| Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation | An AE was defined as any untoward medical occurrence associated with the use of a drug, whether or not considered drug related. An SAE or serious suspected adverse reaction is an AE or suspected adverse reaction that at any dose, in the view of either the Investigator or Ultragenyx, results in any of the following outcomes: death; a life-threatening AE; inpatient hospitalization or prolongation of existing hospitalization; persistent or significant incapacity or disability (substantial disruption of the ability to conduct normal life functions); congenital anomaly/birth defect. TEAEs were defined as any AE that occurred after the first dose of study drug. | 48 Weeks (plus 30 [+5] days for participants not enrolling in extension study) |
| Measure | Description | Time Frame |
|---|---|---|
| Number of Participants Taking Prior and Concomitant Medications | Prior medications are any medications which started before the date of the first dose of investigational product. Concomitant medications are any medications that are taken on or after the date of the first dose of investigational product excluding concomitant medications started after the date of the last dose of investigational product. |
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Inclusion Criteria:
Male or female, aged ≥ 18 years old
Willing and able to provide written, signed informed consent after the nature of the study has been explained, and before any research-related procedures are conducted
Have a documented diagnosis of GNEM, HIBM, distal myopathy with rimmed vacuoles (DMRV), or Nonaka disease due to previously demonstrated mutations in the gene encoding the GNE/N-acetylmannosamine kinase (MNK) enzyme (genotyping will not be conducted in this study).
Should meet the criteria for severe ambulatory impairment defined below:
Willing and able to comply with all study procedures
Participants of child-bearing potential or with partners of child-bearing potential who have not undergone a bilateral salpingo-oophorectomy and are sexually active must consent to use highly effective method of contraception as determined by the site investigator (i.e. oral hormonal contraceptives, patch hormonal contraceptives, vaginal ring, intrauterine device, physical double-barrier methods, surgical hysterectomy, vasectomy, tubal ligation or true abstinence (when this is in line with the preferred and usual lifestyle of the subject) which means not having sex because the subject chooses not to), from the period following the signing of the informed consent through 30 days after last dose of study drug
Females of childbearing potential must have a negative pregnancy test at Screening 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, have had tubal ligation at least one year prior to Screening, or who have had a total hysterectomy or bilateral salpingo-oophorectomy
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Medical Director | Ultragenyx Pharmaceutical Inc | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California, Irvine | Orange | California | 92868 | United States | ||
| Washington University, St. Louis |
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| ID | Title | Description |
|---|---|---|
| FG000 | UX001 6g/Day | Open-label UX001 6000 mg (6 g) total daily dose administered orally divided into a 3-times-daily regimen. |
| Title | Milestones | Reasons Not Completed | |||||
|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| SAP | No | Yes | No | Statistical Analysis Plan | Mar 29, 2017 | Dec 17, 2018 |
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| 48 weeks |
| Number of Participants With Clinically Significant Changes From Baseline In Physical Examinations | Complete physical examinations included assessments of general appearance; head, eyes, ears, nose, and throat; the cardiovascular, dermatologic, lymphatic, respiratory, GI, musculoskeletal, and neurologic systems. The neurologic system examination included assessments of cognition, cranial nerves, motor function, coordination and gait, reflexes, and sensory function. Brief physical examinations included assessments of general appearance, cardiovascular and respiratory systems, and a focus on any presenting complaints. | 48 weeks |
| Number of Participants With Clinically Significant Changes From Baseline In Vital Signs | Vital signs included seated systolic blood pressure and diastolic blood pressure, heart rate, respiration rate, and temperature. | 48 weeks |
| Number of Participants With Clinically Significant Changes From Baseline In Clinical Laboratory Results | The clinical laboratory evaluations performed included serum chemistry, complete blood count (hematology), and urinalysis. | 48 weeks |
| Number of Participants With Overall Suicidal Behaviors and/or Ideation at Baseline and Post-Baseline | As evaluated by the Columbia Suicide Severity Rating Scale (C-SSRS), a participant-rated questionnaire to assess suicidal ideation, suicidal behavior, actual attempts (yes or no responses). | 48 weeks |
| Change From Baseline in GNEM-FAS Expanded Version Mobility Domain Subscale Scores Over Time | GNEM-FAS Expanded Version Mobility subscale scores have 13 items and range from 0 to 52 with higher scores representing greater mobility. Analyzed using a repeated measure generalized estimation equation (GEE) model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Baseline, Weeks 12, 24, 36, and 48 |
| Change From Baseline in GNEM-FAS Expanded Version Upper Extremity Domain Subscale Scores Over Time | GNEM-FAS Expanded Version Upper Extremity subscale scores have 9 items and range from 0 to 36 with higher scores representing more skilled, independent use of the arms during functional activity performance. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Baseline, Weeks 12, 24, 36, and 48 |
| Change From Baseline in GNEM-FAS Expanded Version Self-Care Domain Subscale Scores Over Time | GNEM-FAS Expanded Version Self-Care subscale scores have 8 items range from 0 to 32 with higher scores representing greater independence with functional care activities. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Baseline, Weeks 12, 24, 36, and 48 |
| Change From Baseline in GNEM-FAS Expanded Version Total Scores Over Time | GNEM-FAS Expanded Version Total Score were calculated as the sum of the subscale Scores range from 0 to 120 with higher scores representing greater independence with functional activities. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Baseline, Weeks 12, 24, 36, and 48 |
| Change From Baseline in HHD Raw Strength (Grip) Over Time | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Baseline, Weeks 12, 24, 36, and 48 |
| Change From Baseline in HHD Raw Strength (Shoulder Abductors) Over Time | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Baseline, Weeks 12, 24, 36, and 48 |
| Change From Baseline in HHD Raw Strength (Wrist Extensors) Over Time | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Baseline, Weeks 12, 24, 36, and 48 |
| Change From Baseline in HHD Muscle Strength in Knee Extensors Over Time | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Baseline, Weeks 12, 24, 36, and 48 |
| Change From Baseline in HHD Raw Strength (Key Pinch) Over Time | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. | Baseline, Weeks 12, 24, 36, and 48 |
| St Louis |
| Missouri |
| 63110 |
| United States |
| NYU Langone Medical Center | New York | New York | 10016 | United States |
| University Alexandrovska, Bulgaria | Sofia | 1431 | Bulgaria |
| McMaster University | Hamilton | Ontario | L8N 3Z5 | Canada |
| COMPLETED |
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| NOT COMPLETED |
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| ID | Title | Description |
|---|---|---|
| BG000 | UX001 6g/Day | Open-label UX001 6000 mg (6 g) total daily dose administered orally divided into a 3-times-daily regimen. |
| Units | Counts |
|---|---|
| Participants |
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| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean | Standard Deviation | years |
| |||||||||||||||||
| Sex: Female, Male | Count of Participants | Participants |
| ||||||||||||||||||
| Ethnicity (NIH/OMB) | Count of Participants | Participants |
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| Race/Ethnicity, Customized | Count of Participants | Participants |
| ||||||||||||||||||
| Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy Functional Activities Scale(GNEM-FAS) Mobility Score | GNEM-FAS Expanded Version Mobility subscale scores have 13 items and range from 0 to 52 with higher scores representing greater mobility. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Mean | Standard Deviation | units on a scale |
| |||||||||||||||
| GNEM-FAS Upper Extremity Domain Score | GNEM-FAS Expanded Version Upper Extremity subscale scores have 9 items and range from 0 to 36 with higher scores representing more skilled, independent use of the arms during functional activity performance. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Mean | Standard Deviation | units on a scale |
| |||||||||||||||
| GNEM-FAS Self-Care Domain Score | GNEM-FAS Expanded Version Self-Care subscale scores have 8 items range from 0 to 32 with higher scores representing greater independence with functional care activities. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Mean | Standard Deviation | units on a scale |
| |||||||||||||||
| GNEM-FAS Total Score | GNEM-FAS Expanded Version Total Score were calculated as the sum of the subscale Scores range from 0 to 120 with higher scores representing greater independence with functional activities. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Mean | Standard Deviation | units on a scale |
| |||||||||||||||
| Hand-Held Dynamometry (HHD) Raw Strength: Average Grip | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kilogram-force [kgf]) for each was recorded. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Mean | Standard Deviation | kgf |
| |||||||||||||||
| HHD Raw Strength: Average Shoulder Abduction | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Mean | Standard Deviation | kgf |
| |||||||||||||||
| HHD Raw Strength: Average Wrist Extension | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Mean | Standard Deviation | kgf |
| |||||||||||||||
| HHD Lower Extremity Muscle Strength: Average Knee Extension | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Mean | Standard Deviation | kgf |
| |||||||||||||||
| HHD Raw Strength: Key Pinch | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Mean | Standard Deviation | kgf |
|
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation | An AE was defined as any untoward medical occurrence associated with the use of a drug, whether or not considered drug related. An SAE or serious suspected adverse reaction is an AE or suspected adverse reaction that at any dose, in the view of either the Investigator or Ultragenyx, results in any of the following outcomes: death; a life-threatening AE; inpatient hospitalization or prolongation of existing hospitalization; persistent or significant incapacity or disability (substantial disruption of the ability to conduct normal life functions); congenital anomaly/birth defect. TEAEs were defined as any AE that occurred after the first dose of study drug. | Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug. | Posted | Count of Participants | Participants | 48 Weeks (plus 30 [+5] days for participants not enrolling in extension study) |
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| Secondary | Number of Participants Taking Prior and Concomitant Medications | Prior medications are any medications which started before the date of the first dose of investigational product. Concomitant medications are any medications that are taken on or after the date of the first dose of investigational product excluding concomitant medications started after the date of the last dose of investigational product. | Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug. | Posted | Count of Participants | Participants | No | 48 weeks |
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| Secondary | Number of Participants With Clinically Significant Changes From Baseline In Physical Examinations | Complete physical examinations included assessments of general appearance; head, eyes, ears, nose, and throat; the cardiovascular, dermatologic, lymphatic, respiratory, GI, musculoskeletal, and neurologic systems. The neurologic system examination included assessments of cognition, cranial nerves, motor function, coordination and gait, reflexes, and sensory function. Brief physical examinations included assessments of general appearance, cardiovascular and respiratory systems, and a focus on any presenting complaints. | Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug. | Posted | Number | participants | 48 weeks |
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| Secondary | Number of Participants With Clinically Significant Changes From Baseline In Vital Signs | Vital signs included seated systolic blood pressure and diastolic blood pressure, heart rate, respiration rate, and temperature. | Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug. | Posted | Number | participants | 48 weeks |
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| Secondary | Number of Participants With Clinically Significant Changes From Baseline In Clinical Laboratory Results | The clinical laboratory evaluations performed included serum chemistry, complete blood count (hematology), and urinalysis. | Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug. | Posted | Number | participants | 48 weeks |
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| Secondary | Number of Participants With Overall Suicidal Behaviors and/or Ideation at Baseline and Post-Baseline | As evaluated by the Columbia Suicide Severity Rating Scale (C-SSRS), a participant-rated questionnaire to assess suicidal ideation, suicidal behavior, actual attempts (yes or no responses). | Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug. | Posted | Count of Participants | Participants | No | 48 weeks |
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| Secondary | Change From Baseline in GNEM-FAS Expanded Version Mobility Domain Subscale Scores Over Time | GNEM-FAS Expanded Version Mobility subscale scores have 13 items and range from 0 to 52 with higher scores representing greater mobility. Analyzed using a repeated measure generalized estimation equation (GEE) model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Posted | Least Squares Mean | 95% Confidence Interval | units on a scale | Baseline, Weeks 12, 24, 36, and 48 |
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| Secondary | Change From Baseline in GNEM-FAS Expanded Version Upper Extremity Domain Subscale Scores Over Time | GNEM-FAS Expanded Version Upper Extremity subscale scores have 9 items and range from 0 to 36 with higher scores representing more skilled, independent use of the arms during functional activity performance. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Posted | Least Squares Mean | 95% Confidence Interval | units on a scale | Baseline, Weeks 12, 24, 36, and 48 |
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| Secondary | Change From Baseline in GNEM-FAS Expanded Version Self-Care Domain Subscale Scores Over Time | GNEM-FAS Expanded Version Self-Care subscale scores have 8 items range from 0 to 32 with higher scores representing greater independence with functional care activities. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Posted | Least Squares Mean | 95% Confidence Interval | units on a scale | Baseline, Weeks 12, 24, 36, and 48 |
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| Secondary | Change From Baseline in GNEM-FAS Expanded Version Total Scores Over Time | GNEM-FAS Expanded Version Total Score were calculated as the sum of the subscale Scores range from 0 to 120 with higher scores representing greater independence with functional activities. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Posted | Least Squares Mean | 95% Confidence Interval | units on a scale | Baseline, Weeks 12, 24, 36, and 48 |
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| Secondary | Change From Baseline in HHD Raw Strength (Grip) Over Time | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Posted | Least Squares Mean | 95% Confidence Interval | kgf | Baseline, Weeks 12, 24, 36, and 48 |
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| Secondary | Change From Baseline in HHD Raw Strength (Shoulder Abductors) Over Time | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Posted | Least Squares Mean | 95% Confidence Interval | kgf | Baseline, Weeks 12, 24, 36, and 48 |
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| Secondary | Change From Baseline in HHD Raw Strength (Wrist Extensors) Over Time | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Posted | Least Squares Mean | 95% Confidence Interval | kgf | Baseline, Weeks 12, 24, 36, and 48 |
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| Secondary | Change From Baseline in HHD Muscle Strength in Knee Extensors Over Time | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. Analyzed using a repeated measure GEE model, which includes the change from baseline as the dependent variable, visit as a fixed factor, and the baseline value as a covariate. Compound symmetry is used as the covariance structure. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement. | Posted | Least Squares Mean | 95% Confidence Interval | kgf | Baseline, Weeks 12, 24, 36, and 48 |
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| Secondary | Change From Baseline in HHD Raw Strength (Key Pinch) Over Time | Hand held dynamometry testing was used to measure strength. The maximum voluntary isometric contraction against a dynamometer was used to measure bilateral strength in the following muscle groups: shoulder abductors, wrist extensors and knee extensors. Specialized dynamometers for the measurement of grip and key pinch strength were also used. The total force (in kgf) for each was recorded. | Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement at given time point. | Posted | Mean | Standard Deviation | kgf | Baseline, Weeks 12, 24, 36, and 48 |
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48 Weeks (plus 30 [+5] days for participants not enrolling in extension study)
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Ace-ER 6 g/Day | Open-label UX001 6000 mg (6 g) total daily dose administered orally divided into a 3-times-daily regimen. | 0 | 42 | 1 | 42 | 26 | 42 |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Pyelonephritis | Infections and infestations | MedDRA 17.1 | Systematic Assessment |
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| Sepsis | Infections and infestations | MedDRA 17.1 | Systematic Assessment |
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| Nephrolithiasis | Renal and urinary disorders | MedDRA 17.1 | Systematic Assessment |
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| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Abdominal distension | Gastrointestinal disorders | MedDRA 17.1 | Systematic Assessment |
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| Abdominal pain upper | Gastrointestinal disorders | MedDRA 17.1 | Systematic Assessment |
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| Dyspepsia | Gastrointestinal disorders | MedDRA 17.1 | Systematic Assessment |
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| Dysphagia | Gastrointestinal disorders | MedDRA 17.1 | Systematic Assessment |
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| Flatulence | Gastrointestinal disorders | MedDRA 17.1 | Systematic Assessment |
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| Nausea | Gastrointestinal disorders | MedDRA 17.1 | Systematic Assessment |
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| Fatigue | General disorders | MedDRA 17.1 | Systematic Assessment |
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| Oedema peripheral | General disorders | MedDRA 17.1 | Systematic Assessment |
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| Upper respiratory tract infection | Infections and infestations | MedDRA 17.1 | Systematic Assessment |
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| Urinary tract infection | Infections and infestations | MedDRA 17.1 | Systematic Assessment |
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| Fall | Injury, poisoning and procedural complications | MedDRA 17.1 | Systematic Assessment |
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| Diabetes mellitus | Metabolism and nutrition disorders | MedDRA 17.1 | Systematic Assessment |
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| Arthralgia | Musculoskeletal and connective tissue disorders | MedDRA 17.1 | Systematic Assessment |
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| Back pain | Musculoskeletal and connective tissue disorders | MedDRA 17.1 | Systematic Assessment |
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| Muscular weakness | Musculoskeletal and connective tissue disorders | MedDRA 17.1 | Systematic Assessment |
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| Pain in extremity | Musculoskeletal and connective tissue disorders | MedDRA 17.1 | Systematic Assessment |
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| Headache | Nervous system disorders | MedDRA 17.1 | Systematic Assessment |
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| Cough | Respiratory, thoracic and mediastinal disorders | MedDRA 17.1 | Systematic Assessment |
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The only disclosure restriction on the PI is that the sponsor can review results communications prior to public release and can embargo communications regarding trial results for a period that is more than 60 days but less than or equal to 180 days from the time submitted to the sponsor for review. The sponsor cannot require changes to the communication and cannot extend the embargo.
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Medical Information | Ultragenyx Pharmaceutical Inc | 1-888-756-8657 | medinfo@ultragenyx.com |
| SAP_000.pdf |
| Prot | Yes | No | No | Study Protocol | Mar 15, 2017 | Dec 18, 2018 | Prot_001.pdf |
| ID | Term |
|---|---|
| C536816 | Distal myopathy, Nonaka type |
Not provided
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| Unknown or Not Reported |
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| Other (Not Specified) |
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| TEAEs Causing Study Discontinuation |
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