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

NCT ID: NCT01830972

Last Updated: 2018-04-11

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE2
• Total Enrollment: 59 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2013-06-04
• Study Completion Date: 2017-02-14

Brief Summary

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]).

Conditions

GNE Myopathy; Hereditary Inclusion Body Myopathy (HIBM)

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: CROSSOVER
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Crossover Participants

Participants 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)

Group Type: EXPERIMENTAL

SA-ER 500 mg

Intervention Type: DRUG

oral tablets

SA-IR 500 mg

Intervention Type: DRUG

oral capsules

Naïve Participants

Treatment 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)

Group Type: EXPERIMENTAL

SA-ER 500 mg

Intervention Type: DRUG

oral tablets

SA-IR 500 mg

Intervention Type: DRUG

oral capsules

Interventions

SA-ER 500 mg

oral tablets

Intervention Type: DRUG

SA-IR 500 mg

oral capsules

Intervention Type: DRUG

Eligibility Criteria

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 the 6-Minute Walk Test (6MWT; orthotics and assistive devices allowed)
• Must be willing and able to provide written, signed informed consent after the nature of the study has been explained, and prior to any research-related procedures
• Must be willing and able to comply with all study procedures
• Sexually active subjects must be willing to use an acceptable method of contraception while participating in the study
• Females of childbearing potential must have a negative pregnancy test at Baseline 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, or have had tubal ligation at least one year prior to Baseline, or who have had total hysterectomy

Exclusion Criteria

• Use of any investigational product (other than SA-ER tablets) to treat GNE myopathy
• Ingestion of N-acetyl-D-mannosamine (ManNAc) or similar SA-producing compounds
• Pregnant or breastfeeding at Baseline or planning to become pregnant (self or partner) at any time during the study
• Has had any hypersensitivity to SA or its excipients that, in the judgment of the investigator, places the subject at increased risk for adverse effects
• Have any co-morbid conditions, including unstable major organ-system disease(s) that in the opinion of the investigator, places the subject at increased risk of complications, interferes with study participation or compliance, or confounds study objectives.

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 65 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Ultragenyx Pharmaceutical Inc

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

UCLA Medical Center

Los Angeles, California, United States

Washington University School of Medicine

St Louis, Missouri, United States

NYU Medical Center

New York, New York, United States

Hadassah University Hospital

Jerusalem, , Israel

Countries

United States; Israel

Provided Documents

Document Type: Study Protocol

View Document

Document Type: Statistical Analysis Plan

View Document

Other Identifiers

UX001-CL202

Identifier Type: -

Identifier Source: org_study_id