NCT01830972 is a Phase 2 clinical trial of SA-ER 500 mg in GNE Myopathy, sponsored by Ultragenyx Pharmaceutical Inc.

Who is sponsoring NCT01830972?

NCT01830972 is sponsored by Ultragenyx Pharmaceutical Inc.

What drugs are being tested in NCT01830972?

Interventions in NCT01830972: SA-ER 500 mg, SA-IR 500 mg.

What condition does NCT01830972 study?

NCT01830972 studies GNE Myopathy, Hereditary Inclusion Body Myopathy (HIBM).

Is NCT01830972 still recruiting?

NCT01830972 is currently completed. Last updated 11 April 2018.

Are results published for NCT01830972?

Yes — primary outcome results have been posted to ClinicalTrials.gov. See the outcomes section above for details.

Last reviewed 2018-04-11 · How we verify

NCT01830972

Name: Drug Landscape Pharmaceutical Database
Creator: Drug Landscape
Published: 2026-01-01
License: https://creativecommons.org/licenses/by/4.0/

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

Completed Phase 2 Results posted Last updated 11 April 2018

What this trial tests

Phase 2 trial testing SA-ER 500 mg in GNE Myopathy in 59 participants. Completed in 14 February 2017.

Timeline

4 June 2013

Primary endpoint
14 February 2017

14 February 2017

Quick facts

Lead sponsor	Ultragenyx Pharmaceutical Inc
Phase	Phase 2
Status	Completed
Study type	INTERVENTIONAL
Allocation	non randomized
Design	crossover
Masking	none
Primary purpose	treatment
Enrollment	59
Start date	4 June 2013
Primary completion	14 February 2017
Estimated completion	14 February 2017
Sites	4 locations across United States, Israel

Drugs / interventions tested

SA-ER 500 mg — full drug profile →
SA-IR 500 mg — full drug profile →

Conditions studied

GNE Myopathy — all drugs for GNE Myopathy →
Hereditary Inclusion Body Myopathy (HIBM) — all drugs for Hereditary Inclusion Body Myopathy (HIBM) →

Sponsor

Ultragenyx Pharmaceutical Inc — full company profile →

Who can join

Adults 18 to 65, any sex, with GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM). 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 Discontinuation Primary · 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 medic

>/= 1 TEAE

Group	Value	95% CI
Crossover Participants; 6 g/Day	43
Crossover Participants: 12 g/Day	46
Crossover Participants: Any Dose	46
Naïve Participants: 6 g/Day	1
Naïve Participants: 12 g/Day	13
Overall: Any Dose	59

TEAE Maximum Severity = Grade 1

Group	Value	95% CI
Crossover Participants; 6 g/Day	19
Crossover Participants: 12 g/Day	23
Crossover Participants: Any Dose	15
Naïve Participants: 6 g/Day	0
Naïve Participants: 12 g/Day	5
Overall: Any Dose	20

TEAE Maximum Severity = Grade 2

Group	Value	95% CI
Crossover Participants; 6 g/Day	22
Crossover Participants: 12 g/Day	23
Crossover Participants: Any Dose	29
Naïve Participants: 6 g/Day	1
Naïve Participants: 12 g/Day	7
Overall: Any Dose	36

TEAE Maximum Severity = Grade 3

Group	Value	95% CI
Crossover Participants; 6 g/Day	2
Crossover Participants: 12 g/Day	0
Crossover Participants: Any Dose	2
Naïve Participants: 6 g/Day	0
Naïve Participants: 12 g/Day	1
Overall: Any Dose	3

TEAE Maximum Severity = Grade 4

Group	Value	95% CI
Crossover Participants; 6 g/Day	0
Crossover Participants: 12 g/Day	0
Crossover Participants: Any Dose	0
Naïve Participants: 6 g/Day	0
Naïve Participants: 12 g/Day	0
Overall: Any Dose	0

TEAE Maximum Severity = Grade 5

Group	Value	95% CI
Crossover Participants; 6 g/Day	0
Crossover Participants: 12 g/Day	0
Crossover Participants: Any Dose	0
Naïve Participants: 6 g/Day	0
Naïve Participants: 12 g/Day	0
Overall: Any Dose	0

Treatment Related TEAEs

Group	Value	95% CI
Crossover Participants; 6 g/Day	26
Crossover Participants: 12 g/Day	40
Crossover Participants: Any Dose	45
Naïve Participants: 6 g/Day	1
Naïve Participants: 12 g/Day	11
Overall: Any Dose	56

Serious TEAEs

Group	Value	95% CI
Crossover Participants; 6 g/Day	2
Crossover Participants: 12 g/Day	0
Crossover Participants: Any Dose	2
Naïve Participants: 6 g/Day	0
Naïve Participants: 12 g/Day	1
Overall: Any Dose	3

Interval History: Has the Participant Experienced Any New Conditions or Exacerbations of an Existing Condition Since Last Study Visit? Primary · 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.

Part I Baseline (Study UX001-CL201 Week 48): Yes

Group	Value	95% CI
Crossover Participants	29

Part I Baseline (Study UX001-CL201 Week 48): No

Group	Value	95% CI
Crossover Participants	17

Part I Month 6: Yes

Group	Value	95% CI
Crossover Participants	6

Part I Month 6: No

Group	Value	95% CI
Crossover Participants	0

Part II-IV Baseline: Yes

Group	Value	95% CI
Crossover Participants	28
Naïve Participants	0

Part II-IV Baseline: No

Group	Value	95% CI
Crossover Participants	18
Naïve Participants	1

Part II-IV Month 1: Yes

Group	Value	95% CI
Crossover Participants	36
Naïve Participants	12

Part II-IV Month 1: No

Group	Value	95% CI
Crossover Participants	10
Naïve Participants	1

Interval History: Has the Participant Started Taking Any New Medications or Discontinued Any Medications Since the Study Visit? Primary · 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

Part I Baseline (Study UX001-CL201 Week 48): Yes

Group	Value	95% CI
Crossover Participants	21

Part I Baseline (Study UX001-CL201 Week 48): No

Group	Value	95% CI
Crossover Participants	25

Part I Month 6: Yes

Group	Value	95% CI
Crossover Participants	4

Part I Month 6: No

Group	Value	95% CI
Crossover Participants	2

Part II-IV Baseline: Yes

Group	Value	95% CI
Crossover Participants	23
Naïve Participants	0

Part II-IV Baseline: No

Group	Value	95% CI
Crossover Participants	23
Naïve Participants	1

Part II-IV Month 1: Yes

Group	Value	95% CI
Crossover Participants	15
Naïve Participants	4

Part II-IV Month 1: No

Group	Value	95% CI
Crossover Participants	31
Naïve Participants	9

Interval History: Has the Participant Started Receiving Any New Therapy or Discontinued Any Therapies Since Last Study Visit? Primary · 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

Part I Baseline (Study UX001-CL201 Week 48): Yes

Group	Value	95% CI
Crossover Participants	5

Part I Baseline (Study UX001-CL201 Week 48): No

Group	Value	95% CI
Crossover Participants	41

Part I Month 6: Yes

Group	Value	95% CI
Crossover Participants	3

Part I Month 6: No

Group	Value	95% CI
Crossover Participants	3

Part II-IV Baseline: Yes

Group	Value	95% CI
Crossover Participants	9
Naïve Participants	0

Part II-IV Baseline: No

Group	Value	95% CI
Crossover Participants	37
Naïve Participants	1

Part II-IV Month 1: Yes

Group	Value	95% CI
Crossover Participants	4
Naïve Participants	0

Part II-IV Month 1: No

Group	Value	95% CI
Crossover Participants	42
Naïve Participants	13

Interval History: Typical Number of Falls Per Year Primary · Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 6, 12, 18, 24, 30, 36, study termination

Part I Baseline (Study UX001-CL201 Week 48)

Group	Value	95% CI
Crossover Participants	11.0	± 53.63

Part I Month 6

Group	Value	95% CI
Crossover Participants	3.8	± 3.54

Part II-IV Baseline

Group	Value	95% CI
Crossover Participants	14.1	± 53.66
Naïve Participants	6.0	± 6.19

Part II-IV Month 1

Group	Value	95% CI
Crossover Participants	6.8	± 9.60
Naïve Participants	7.3	± 6.31

Part II-IV Month 6

Group	Value	95% CI
Crossover Participants	8.0	± 11.87
Naïve Participants	5.6	± 6.39

Part II-IV Month 12

Group	Value	95% CI
Crossover Participants	5.4	± 8.94
Naïve Participants	5.1	± 3.51

Part II-IV Month 18

Group	Value	95% CI
Crossover Participants	7.8	± 14.58
Naïve Participants	6.0	± 4.15

Part II-IV Month 24

Group	Value	95% CI
Crossover Participants	9.4	± 28.23
Naïve Participants	4.5	± 3.05

Adverse events — posted to ClinicalTrials.gov

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 Naive Participants.. Reporting threshold: 5%. Adverse-event reports describe events observed during the trial — not all are caused by the drug.

Crossover Participants; 6 g/Day

Serious: 2/46 (4%)

Deaths: 0/46

Crossover Participants: 12 g/Day

Serious: 0/46 (0%)

Deaths: 0/46

Crossover Participants: Any Dose

Serious: 2/46 (4%)

Deaths: 0/46

Naïve Participants: 6 g/Day

Serious: 0/1 (0%)

Deaths: 0/1

Naïve Participants: 12 g/Day

Serious: 1/13 (8%)

Deaths: 0/13

Overall: Any Dose

Serious: 3/59 (5%)

Deaths: 0/59

Serious adverse events (4 terms)

Reaction	System	Crossover Participants; 6 …	Crossover Participants: 12…	Crossover Participants: An…	Naïve Participants: 6 g/Day	Naïve Participants: 12 g/Day	Overall: Any Dose
Chest pain	General disorders	—	—	—	—	—	—
Femur fracture	Injury, poisoning and procedural complications	—	—	—	—	—	—
Quadriparesis	Nervous system disorders	—	—	—	—	—	—
Deep vein thrombosis	Vascular disorders	—	—	—	—	—	—

Other adverse events (124 terms — click to expand)

Reaction	System	Crossover Participants; 6 …	Crossover Participants: 12…	Crossover Participants: An…	Naïve Participants: 6 g/Day	Naïve Participants: 12 g/Day	Overall: Any Dose
Flatulence	Gastrointestinal disorders	—	—	—	—	—	—
Procedural pain	Injury, poisoning and procedural complications	—	—	—	—	—	—
Headache	Nervous system disorders	—	—	—	—	—	—
Arthralgia	Musculoskeletal and connective tissue disorders	—	—	—	—	—	—
Influenza like illness	General disorders	—	—	—	—	—	—
Back pain	Musculoskeletal and connective tissue disorders	—	—	—	—	—	—
Pain in extremity	Musculoskeletal and connective tissue disorders	—	—	—	—	—	—
Diarrhoea	Gastrointestinal disorders	—	—	—	—	—	—
Dyspepsia	Gastrointestinal disorders	—	—	—	—	—	—
Cough	Respiratory, thoracic and mediastinal disorders	—	—	—	—	—	—
Contusion	Injury, poisoning and procedural complications	—	—	—	—	—	—
Oropharyngeal pain	Respiratory, thoracic and mediastinal disorders	—	—	—	—	—	—
Musculoskeletal pain	Musculoskeletal and connective tissue disorders	—	—	—	—	—	—
Dizziness	Nervous system disorders	—	—	—	—	—	—
Fatigue	General disorders	—	—	—	—	—	—
Fall	Injury, poisoning and procedural complications	—	—	—	—	—	—
Nausea	Gastrointestinal disorders	—	—	—	—	—	—
Pyrexia	General disorders	—	—	—	—	—	—
Muscular weakness	Musculoskeletal and connective tissue disorders	—	—	—	—	—	—
Neck pain	Musculoskeletal and connective tissue disorders	—	—	—	—	—	—
Nasal congestion	Respiratory, thoracic and mediastinal disorders	—	—	—	—	—	—
Abdominal pain	Gastrointestinal disorders	—	—	—	—	—	—
Nasopharyngitis	Infections and infestations	—	—	—	—	—	—
Pharyngitis	Infections and infestations	—	—	—	—	—	—
Myalgia	Musculoskeletal and connective tissue disorders	—	—	—	—	—	—
Vomiting	Gastrointestinal disorders	—	—	—	—	—	—
Pain	General disorders	—	—	—	—	—	—
Sinusitis	Infections and infestations	—	—	—	—	—	—
Laceration	Injury, poisoning and procedural complications	—	—	—	—	—	—
Skin abrasion	Injury, poisoning and procedural complications	—	—	—	—	—	—
Anxiety	Psychiatric disorders	—	—	—	—	—	—
Rhinorrhoea	Respiratory, thoracic and mediastinal disorders	—	—	—	—	—	—
Rash	Skin and subcutaneous tissue disorders	—	—	—	—	—	—
Ear pain	Ear and labyrinth disorders	—	—	—	—	—	—
Abdominal distension	Gastrointestinal disorders	—	—	—	—	—	—
Peripheral swelling	General disorders	—	—	—	—	—	—
Upper respiratory tract infection	Infections and infestations	—	—	—	—	—	—
Vitamin D deficiency	Metabolism and nutrition disorders	—	—	—	—	—	—
Abdominal discomfort	Gastrointestinal disorders	—	—	—	—	—	—
Toothache	Gastrointestinal disorders	—	—	—	—	—	—

Most-reported serious reactions: Chest pain, Femur fracture, Quadriparesis, Deep vein thrombosis.

Data from ClinicalTrials.gov NCT01830972 adverse events section.

Sponsor's own description

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 \[SA-ER\]).

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

GNE myopathy: current update and future therapy.
Nishino I, Carrillo-Carrasco N, Argov Z. · · 2015 · cited 121× · PMID 25002140 · DOI 10.1136/jnnp-2013-307051
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV, Vilboux T, Ciccone C, de Dios JK, et al · · 2014 · cited 95× · PMID 24796702 · DOI 10.1002/humu.22583
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.
Carrillo N, Malicdan MC, Huizing M. · · 2018 · cited 69× · PMID 30338442 · DOI 10.1007/s13311-018-0671-y
CDG Therapies: From Bench to Bedside.
Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, et al · · 2018 · cited 66× · PMID 29702557 · DOI 10.3390/ijms19051304
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Pogoryelova O, Cammish P, Mansbach H, Argov Z, et al · · 2018 · cited 46× · PMID 29305133 · DOI 10.1016/j.nmd.2017.11.001
GNE myopathy: from clinics and genetics to pathology and research strategies.
Pogoryelova O, González Coraspe JA, Nikolenko N, Lochmüller H, et al · · 2018 · cited 38× · PMID 29720219 · DOI 10.1186/s13023-018-0802-x
Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy.
Argov Z, Bronstein F, Esposito A, Feinsod-Meiri Y, et al · · 2017 · cited 12× · PMID 28827485 · DOI 10.1097/cnd.0000000000000181
Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.
Slota C, Bevans M, Yang L, Shrader J, et al · · 2018 · cited 10× · PMID 28637129 · DOI 10.1080/09638288.2017.1283712

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Verify against primary sources

ClinicalTrials.gov — authoritative US registry record
WHO ICTRP — international registry index
EU Clinical Trials Register
Sponsor press releases (Google)

Data sources for this page

Trial protocol + status: ClinicalTrials.gov NCT01830972 (US National Library of Medicine, public domain)
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: 11 April 2018

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/NCT01830972.

Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing

NCT01830972

Quick facts

Drugs / interventions tested

Conditions studied

Sponsor

Who can join

Results — posted to ClinicalTrials.gov

Adverse events — posted to ClinicalTrials.gov

Serious adverse events (4 terms)

Sponsor's own description

Publications & conference data

Related trials

Other recruiting trials for GNE Myopathy

Other Ultragenyx Pharmaceutical Inc trials

Verify against primary sources