Trial · NCT02731690

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

NCT02731690, Phase 2, Terminated, Ultragenyx Pharmaceutical Inc; results first posted 2019-02-19

3 sourcestrials-2026-11-12-0.5.0

Cite this record

ConductScience Library. 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. Trials, record NCT02731690. Release trials-2026-11-12-0.5.0, 12 Nov 2026. https://conductscience.org/library/trials/NCT02731690

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Trial

As registered on ClinicalTrials.gov, in the graph's capture of the registry.

Title: 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
NCT number: NCT02731690
Status: Terminated
Phases: Phase 2
Enrollment: 42 participants, actual
Lead sponsor: Ultragenyx Pharmaceutical Inc
Conditions: Hereditary Inclusion Body Myopathy, Distal Myopathy With Rimmed Vacuoles, Distal Myopathy, Nonaka Type, GNE Myopathy, Quadriceps Sparing Myopathy, Inclusion Body Myopathy 2
Interventions: Aceneuramic Acid Extended-Release
First posted: 2016-04-07
Last updated: 2019-02-19
Results first posted: 2019-02-19

Source ClinicalTrials.gov

Registered outcomes15

Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.

List	Outcome	Time frame	Description
Primary	Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation	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 defined as any AE that occurred after the first dose of study drug.
Secondary	Number of Participants Taking Prior and Concomitant Medications	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.
Secondary	Number of Participants With Clinically Significant Changes From Baseline In Physical Examinations	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.
Secondary	Number of Participants With Clinically Significant Changes From Baseline In Vital Signs	48 weeks	Vital signs included seated systolic blood pressure and diastolic blood pressure, heart rate, respiration rate, and temperature.
Secondary	Number of Participants With Clinically Significant Changes From Baseline In Clinical Laboratory Results	48 weeks	The clinical laboratory evaluations performed included serum chemistry, complete blood count (hematology), and urinalysis.
Secondary	Number of Participants With Overall Suicidal Behaviors and/or Ideation at Baseline and Post-Baseline	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).
Secondary	Change From Baseline in GNEM-FAS Expanded Version Mobility Domain Subscale Scores Over Time	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.
Secondary	Change From Baseline in GNEM-FAS Expanded Version Upper Extremity Domain Subscale Scores Over Time	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.
Secondary	Change From Baseline in GNEM-FAS Expanded Version Self-Care Domain Subscale Scores Over Time	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.
Secondary	Change From Baseline in GNEM-FAS Expanded Version Total Scores Over Time	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.

1 to 10 of 15Source ClinicalTrials.gov

See all 15 registered outcomes

Outcomes15

Each outcome the trial posted results for, in ClinicalTrials.gov's words.

Type	Outcome	Time frame	Population	Units	Measured as
PRIMARY	Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation	48 Weeks (plus 30 [+5] days for participants not enrolling in extension study)	Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug.	Participants	COUNT_OF_PARTICIPANTS
SECONDARY	Number of Participants Taking Prior and Concomitant Medications	48 weeks	Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug.	Participants	COUNT_OF_PARTICIPANTS
SECONDARY	Number of Participants With Clinically Significant Changes From Baseline In Physical Examinations	48 weeks	Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug.	participants	NUMBER
SECONDARY	Number of Participants With Clinically Significant Changes From Baseline In Vital Signs	48 weeks	Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug.	participants	NUMBER
SECONDARY	Number of Participants With Clinically Significant Changes From Baseline In Clinical Laboratory Results	48 weeks	Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug.	participants	NUMBER
SECONDARY	Number of Participants With Overall Suicidal Behaviors and/or Ideation at Baseline and Post-Baseline	48 weeks	Safety Analysis Set: all enrolled participants who received at least 1 dose of study drug.	Participants	COUNT_OF_PARTICIPANTS
SECONDARY	Change From Baseline in GNEM-FAS Expanded Version Mobility Domain Subscale Scores Over Time	Baseline, Weeks 12, 24, 36, and 48	Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement.	units on a scale	LEAST_SQUARES_MEAN
SECONDARY	Change From Baseline in GNEM-FAS Expanded Version Upper Extremity Domain Subscale Scores Over Time	Baseline, Weeks 12, 24, 36, and 48	Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement.	units on a scale	LEAST_SQUARES_MEAN
SECONDARY	Change From Baseline in GNEM-FAS Expanded Version Self-Care Domain Subscale Scores Over Time	Baseline, Weeks 12, 24, 36, and 48	Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement.	units on a scale	LEAST_SQUARES_MEAN
SECONDARY	Change From Baseline in GNEM-FAS Expanded Version Total Scores Over Time	Baseline, Weeks 12, 24, 36, and 48	Full Analysis Set: all participants with a baseline measurement and at least 1 postbaseline measurement.	units on a scale	LEAST_SQUARES_MEAN

1 to 10 of 15Source ClinicalTrials.gov

See all 15 outcomes

Results by group54

Each measurement the trial posted, group by group, in the words and numbers it posted.

Outcome	Group	Category	Value	Units
Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation	UX001 6g/Day	TEAEs	30	Participants
Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation	UX001 6g/Day	Serious TEAEs	1	Participants
Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation	UX001 6g/Day	TEAEs Causing Study Drug Discontinuation	1	Participants
Number of Participants With Treatment-Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation	UX001 6g/Day	TEAEs Causing Study Discontinuation	1	Participants
Number of Participants Taking Prior and Concomitant Medications	UX001 6g/Day	Prior Medications	31	Participants
Number of Participants Taking Prior and Concomitant Medications	UX001 6g/Day	Concomitant Medications	33	Participants
Number of Participants With Clinically Significant Changes From Baseline In Physical Examinations	UX001 6g/Day		0	participants
Number of Participants With Clinically Significant Changes From Baseline In Vital Signs	UX001 6g/Day		0	participants
Number of Participants With Clinically Significant Changes From Baseline In Clinical Laboratory Results	UX001 6g/Day	Hematology	0	participants
Number of Participants With Clinically Significant Changes From Baseline In Clinical Laboratory Results	UX001 6g/Day	Clinical Chemistry	2	participants

1 to 10 of 54Source ClinicalTrials.gov

See all 54 results by group

Participant flow3

How many started, completed or left each group, period by period.

Period	Milestone	Group	Participants
Overall Study	STARTED	UX001 6g/Day	42
Overall Study	COMPLETED	UX001 6g/Day	12
Overall Study	NOT COMPLETED	UX001 6g/Day	30

Source ClinicalTrials.gov

Adverse events21

Each adverse event the trial posted, group by group: the participants affected out of those at risk.

Type	Event	Organ system	Group	Affected	At risk
other	Abdominal distension	Gastrointestinal disorders	Ace-ER 6 g/Day	7	42
other	Abdominal pain upper	Gastrointestinal disorders	Ace-ER 6 g/Day	6	42
other	Dyspepsia	Gastrointestinal disorders	Ace-ER 6 g/Day	3	42
other	Dysphagia	Gastrointestinal disorders	Ace-ER 6 g/Day	3	42
other	Flatulence	Gastrointestinal disorders	Ace-ER 6 g/Day	7	42
other	Nausea	Gastrointestinal disorders	Ace-ER 6 g/Day	3	42
other	Fatigue	General disorders	Ace-ER 6 g/Day	3	42
other	Oedema peripheral	General disorders	Ace-ER 6 g/Day	3	42
other	Upper respiratory tract infection	Infections and infestations	Ace-ER 6 g/Day	7	42
other	Urinary tract infection	Infections and infestations	Ace-ER 6 g/Day	3	42

1 to 10 of 21Source ClinicalTrials.gov

See all 21 adverse events

Adverse event totals3

The totals the trial posted for each group.

Total	Group	Affected	At risk
Total, all-cause mortality	Ace-ER 6 g/Day	0	42
Total, other adverse events	Ace-ER 6 g/Day	26	42
Total, serious adverse events	Ace-ER 6 g/Day	1	42

Source ClinicalTrials.gov

Papers0

The papers the trial lists on ClinicalTrials.gov.

None in this release.

Grants0

The grants NIH RePORTER links to the trial, newest funded first: NIH's, and some of AHRQ's, CDC's, FDA's and VA's. Each shows its title, principal investigators, organization and funder in its newest year.

None in this release.

Trial comparisons0

Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.

None in this release.

Tests0

The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.

None in this release.

Data dates

The day each source was copied for this release.

ClinicalTrials.gov: 2026-11-12; ClinicalTrials.gov
Results, from AACT: 2026-03-23; AACT
NIH grant links: 2026-11-13; NIH RePORTER

Sources 3

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ClinicalTrials.govNo license stated
NIH RePORTER's clinical studies and project filesPublic domain

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ClinicalTrials.govnone stated
NIH RePORTER's clinical studies and project filesPublic domain (NIH RePORTER)

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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Read this trial from software.

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