Overview

This trial is active, not recruiting.

Conditions hereditary inclusion body myopathy, distal myopathy with rimmed vacuoles, distal myopathy, nonaka type
Treatments sialic acid tablets, placebo tablets
Phase phase 3
Sponsor Ultragenyx Pharmaceutical Inc
Start date May 2015
End date June 2017
Trial size 80 participants
Trial identifier NCT02377921, UX001-CL301

Summary

UX001-CL301 is a randomized, double-blind, placebo-controlled study to assess the safety and efficacy of 6 g/day sialic acid - extended release (SA-ER) treatment as compared with placebo in subjects with GNE Myopathy.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Allocation randomized
Endpoint classification safety/efficacy study
Intervention model parallel assignment
Masking double blind (subject, caregiver, investigator, outcomes assessor)
Primary purpose treatment
Arm
(Experimental)
Patients may be randomized to the experimental arm. Patients randomized to this arm will take 12 tablets of SA-ER per day. The total daily dose will be achieved by taking 4 tablets 3 times per day (in the morning, in the early evening, and before bedtime). Each dose should be taken with food (ie, within 30 minutes after a meal or a snack.) Approximately 80 subjects will be randomized in a 1:1 ratio to receive SA-ER or matching placebo for 48 weeks.
sialic acid tablets UX001
(Placebo Comparator)
Patients may be randomized to the placebo comparator arm. Patients randomized to this arm will take 12 tablets of placebo per day. The total daily dose will be achieved by taking 4 tablets 3 times per day (in the morning, in the early evening, and before bedtime). Each dose should be taken with food (ie, within 30 minutes after a meal or a snack.) Approximately 80 subjects will be randomized in a 1:1 ratio to receive SA-ER or matching placebo for 48 weeks.
placebo tablets

Primary Outcomes

Measure
Upper Extremity Muscle Strength
time frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48

Secondary Outcomes

Measure
GNEM-FAS Mobility Domain Score
time frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48
GNEM-FAS Upper Extremity Domain Score
time frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48
Lower Extremity Muscle Strength
time frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48
Timed Sit-to-Stand Test
time frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48
Timed Weighted Arm Lift Test
time frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48
Lower Extremity Muscle Strength in the Knee Extensors
time frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48
Distance Walked in the Six-minute Walk Test
time frame: Change from Baseline at Weeks 8, 16, 24, 32, 40, and 48

Eligibility Criteria

Male or female participants from 18 years up to 55 years old.

Inclusion Criteria: - Male or female, aged 18 to 55 years, inclusive - Willing and able to provide written, signed informed consent after the nature of the study has been explained, and before any research-related procedures are conducted - Have a documented diagnosis of GNEM, HIBM, DMRV, or Nonaka disease due to previously demonstrated mutations in the gene encoding the GNE/MNK enzyme (genotyping will not be conducted in this study) - Able to provide reproducible force in elbow flexors (i.e. two dynamometry force values with no more than 15% variability in the dominant arm) at Screening - Able to walk a minimum of 200 meters during the 6MWT at Screening without the use of assistive devices, including a cane, crutch(es), walker, wheelchair or scooter (AFOs are permitted) - Willing and able to comply with all study procedures - Participants of child‐bearing potential or with partners of child-bearing potential who have not undergone a bilateral salpingo‐oophorectomy and are sexually active must consent to use a highly effective method of contraception as determined by the site investigator (i.e. oral hormonal contraceptives, patch hormonal contraceptives, vaginal ring, intrauterine device, physical double-barrier methods, surgical hysterectomy, vasectomy, tubal ligation, or true abstinence [when this is in line with the preferred and usual lifestyle of the subject], which means not having sex because the subject chooses not to), from the period following the signing of the informed consent through 3 months after last dose of study drug - Females of childbearing potential must have a negative pregnancy test at Screening 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, have had tubal ligation at least one year prior to Screening, or who have had a total hysterectomy or bilateral salpingo‐oophorectomy Exclusion Criteria: - Ingestion of N-acetyl-D-mannosamine (ManNAc), SA, or related metabolites; intravenous immunoglobulin (IVIG); or anything that can be metabolized to produce SA in the body within 60 days prior to the Screening Visit - History of more than 30 days treatment with SA-ER and/or SA-IR in prior clinical trials in the past year - 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 - Has serum transaminase (i.e. aspartate aminotransferase [AST] or gamma-glutamyl transpeptidase [GGT]) levels greater than 3X the upper limit of normal (ULN) for age/gender, or serum creatinine of greater than 2X ULN at Screening - Pregnant or breastfeeding at Screening or planning to become pregnant (self or partner) at any time during the study - Use of any investigational product or investigational medical device within 30 days prior to Screening, or anticipated requirement for any investigational agent prior to completion of all scheduled study assessments - Has a condition of such severity and acuity, in the opinion of the investigator, that it warrants immediate surgical intervention or other treatment or may not allow safe participation in the study - Has a concurrent disease, active suicidal ideation, or other condition that, in the view of the investigator, places the subject at high risk of poor treatment compliance or of not completing the study, or would interfere with study participation or would affect safety

Additional Information

Official title A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
Trial information was received from ClinicalTrials.gov and was last updated in June 2016.
Information provided to ClinicalTrials.gov by Ultragenyx Pharmaceutical Inc.