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SA

Phase 2

GNE Myopathy | Small molecule | Rare Disease |Ultragenyx Pharmaceutical Inc.|Last Updated: Apr 11, 2018

Success Probability

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Market & Valuation

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Trial Design

CONTROLLEDDMC
Total Trials1
Total Enrollment59

FDA Designations

No designations recorded

Clinical trial landscape

SA · 1 trial · 2 indications

Phase 2 1
NCT01830972An 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) MyopathyGNE Myopathy
COMPLETED59 Analytics
PHASE2COMPLETED
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
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Study Endpoints

Primary Endpoints

Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation
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
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?
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?
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?
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
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.

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Study Design & Arms

AllocationNON_RANDOMIZED
MaskingNONE
ModelCROSSOVER
PurposeTREATMENT

Treatment Arms

ArmTypeDescription
Crossover ParticipantsEXPERIMENTALParticipants 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 ParticipantsEXPERIMENTALTreatment 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)

Interventions

NameTypeDescription
SA-ER 500 mgDRUGoral tablets
SA-IR 500 mgDRUGoral capsules
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Eligibility Criteria

Age Range18 Years to 65 Years
SexALL
Healthy VolunteersNo
Study Sites4

Inclusion Criteria: * 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 ...

Countries:United StatesIsrael
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Competitive Landscape -Arrhythmogenic Right Ventricular Cardiomyopathy 3 trials (matched to "GNE Myopathy")

CompanyTickerTrialsLead PhaseDrugs
Lexeo Therapeutics, Inc.LXEO3PHASE1LX2020
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Frequently asked questions about SA

What is SA used for in GNE Myopathy?

SA is an investigational small molecule being studied for the treatment of GNE Myopathy, also known as Hereditary Inclusion Body Myopathy (HIBM). It is designed to address the underlying sialic acid deficiency in this rare genetic muscle disorder. SA is currently in Phase 2 clinical development and is not yet approved by regulatory authorities.

What does SA target?

SA targets the sialic acid pathway, providing sialic acid to compensate for the deficiency caused by mutations in the GNE gene. This deficiency leads to the muscle weakness and wasting characteristic of GNE Myopathy. By supplementing sialic acid, SA aims to restore normal cellular function and potentially slow disease progression.

Who makes SA?

SA is being developed by Ultragenyx Pharmaceutical Inc., a biopharmaceutical company focused on rare diseases. Ultragenyx is publicly traded on the NASDAQ under the ticker symbol RARE. The company is conducting clinical trials to evaluate the safety and efficacy of SA in patients with GNE Myopathy.

What phase is SA in?

SA is in Phase 2 clinical development for the treatment of GNE Myopathy. It is an investigational drug, meaning it has not been approved by the FDA or any other regulatory agency. The Phase 2 trial has been completed, and the data will inform further development decisions.

What clinical trials is SA in?

SA has been studied in one clinical trial, NCT01830972, an open-label Phase 2 extension study. This trial evaluated higher doses of SA extended-release tablets and SA immediate-release capsules in patients with GNE Myopathy. The study enrolled 59 participants in the United States and Israel and has been completed.

Is SA the same as sialic acid?

SA is a form of sialic acid, specifically developed as a therapeutic agent. The clinical trial evaluated both sialic acid extended-release (SA-ER) tablets and sialic acid immediate-release (SA-IR) capsules. These formulations are designed to deliver sialic acid to patients with GNE Myopathy who have a deficiency in this compound.