A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy [HIBM]) Patients With Severe Ambulatory Impairment
TerminatedPhase 2Results postedLast updated 19 February 2019
What this trial tests
Phase 2 trial testing Aceneuramic Acid Extended-Release in Hereditary Inclusion Body Myopathy in 42 participants. Terminated before completion.
18 and older, any sex, with Hereditary Inclusion Body Myopathy or Distal Myopathy With Rimmed Vacuoles. Patients with the condition only — healthy volunteers not accepted.
Results — posted to ClinicalTrials.gov
Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.
Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to DiscontinuationPrimary· 48 Weeks (plus 30 [+5] days for participants not enrolling in extension study)
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 defi
TEAEs
Group
Value
95% CI
UX001 6g/Day
30
Serious TEAEs
Group
Value
95% CI
UX001 6g/Day
1
TEAEs Causing Study Drug Discontinuation
Group
Value
95% CI
UX001 6g/Day
1
TEAEs Causing Study Discontinuation
Group
Value
95% CI
UX001 6g/Day
1
Number of Participants Taking Prior and Concomitant MedicationsSecondary· 48 weeks
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.
Prior Medications
Group
Value
95% CI
UX001 6g/Day
31
Concomitant Medications
Group
Value
95% CI
UX001 6g/Day
33
Number of Participants With Clinically Significant Changes From Baseline In Physical ExaminationsSecondary· 48 weeks
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.
Group
Value
95% CI
UX001 6g/Day
0
Number of Participants With Clinically Significant Changes From Baseline In Vital SignsSecondary· 48 weeks
Vital signs included seated systolic blood pressure and diastolic blood pressure, heart rate, respiration rate, and temperature.
Group
Value
95% CI
UX001 6g/Day
0
Number of Participants With Clinically Significant Changes From Baseline In Clinical Laboratory ResultsSecondary· 48 weeks
The clinical laboratory evaluations performed included serum chemistry, complete blood count (hematology), and urinalysis.
Hematology
Group
Value
95% CI
UX001 6g/Day
0
Clinical Chemistry
Group
Value
95% CI
UX001 6g/Day
2
Urinalysis
Group
Value
95% CI
UX001 6g/Day
0
Number of Participants With Overall Suicidal Behaviors and/or Ideation at Baseline and Post-BaselineSecondary· 48 weeks
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).
Change From Baseline in GNEM-FAS Expanded Version Mobility Domain Subscale Scores Over TimeSecondary· Baseline, Weeks 12, 24, 36, and 48
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.
Week 12
Group
Value
95% CI
UX001 6g/Day
0.16
-0.33 – 0.64
Week 24
Group
Value
95% CI
UX001 6g/Day
-0.65
-1.56 – 0.27
Week 36
Group
Value
95% CI
UX001 6g/Day
-0.69
-1.57 – 0.18
Week 48
Group
Value
95% CI
UX001 6g/Day
-1.03
-2.15 – 0.09
Change From Baseline in GNEM-FAS Expanded Version Upper Extremity Domain Subscale Scores Over TimeSecondary· Baseline, Weeks 12, 24, 36, and 48
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.
Week 12
Group
Value
95% CI
UX001 6g/Day
0.57
-0.05 – 1.19
Week 24
Group
Value
95% CI
UX001 6g/Day
-0.62
-1.50 – 0.26
Week 36
Group
Value
95% CI
UX001 6g/Day
-0.51
-1.58 – 0.55
Week 48
Group
Value
95% CI
UX001 6g/Day
-1.91
-3.93 – 0.11
Change From Baseline in GNEM-FAS Expanded Version Self-Care Domain Subscale Scores Over TimeSecondary· Baseline, Weeks 12, 24, 36, and 48
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.
Week 12
Group
Value
95% CI
UX001 6g/Day
-0.39
-0.79 – 0.01
Week 24
Group
Value
95% CI
UX001 6g/Day
-0.71
-1.43 – 0.01
Week 36
Group
Value
95% CI
UX001 6g/Day
-0.83
-1.64 – -0.02
Week 48
Group
Value
95% CI
UX001 6g/Day
-0.40
-1.78 – 0.98
Change From Baseline in GNEM-FAS Expanded Version Total Scores Over TimeSecondary· Baseline, Weeks 12, 24, 36, and 48
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.
Week 12
Group
Value
95% CI
UX001 6g/Day
0.35
-0.89 – 1.58
Week 24
Group
Value
95% CI
UX001 6g/Day
-1.95
-3.87 – -0.03
Week 36
Group
Value
95% CI
UX001 6g/Day
-2.02
-4.46 – 0.42
Week 48
Group
Value
95% CI
UX001 6g/Day
-3.34
-6.90 – 0.22
Change From Baseline in HHD Raw Strength (Grip) Over TimeSecondary· Baseline, Weeks 12, 24, 36, and 48
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 th
Week 12
Group
Value
95% CI
UX001 6g/Day
0.258
-0.103 – 0.620
Week 24
Group
Value
95% CI
UX001 6g/Day
0.128
-0.377 – 0.632
Week 36
Group
Value
95% CI
UX001 6g/Day
0.038
-0.724 – 0.799
Week 48
Group
Value
95% CI
UX001 6g/Day
-0.261
-1.325 – 0.803
Change From Baseline in HHD Raw Strength (Shoulder Abductors) Over TimeSecondary· Baseline, Weeks 12, 24, 36, and 48
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 th
Week 12
Group
Value
95% CI
UX001 6g/Day
0.339
0.085 – 0.592
Week 24
Group
Value
95% CI
UX001 6g/Day
0.379
-0.228 – 0.987
Week 36
Group
Value
95% CI
UX001 6g/Day
0.437
0.075 – 0.800
Week 48
Group
Value
95% CI
UX001 6g/Day
-0.277
-0.698 – 0.144
Adverse events — posted to ClinicalTrials.gov
Time frame: 48 Weeks (plus 30 [+5] days for participants not enrolling in extension study).
Reporting threshold: 5%.
Adverse-event reports describe events observed during the trial — not all are caused by the drug.
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.
Publications & conference data
6 peer-reviewed publications reference this trial (live from Europe PMC):
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Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
Sponsor: as reported to ClinicalTrials.gov by Ultragenyx Pharmaceutical Inc
Last refreshed: 19 February 2019
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT02731690.