GNE Myopathy, also known as Hereditary Inclusion Body Myopathy (HIBM), Distal Myopathy with Rimmed Vacuoles (DMRV), Nonaka's disease, or quadriceps sparing myopathy (QSM) MedDRA version: 19.1 Level: LLT Classification code 10075048 Term: Hereditary inclusion body myopathy System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 19.1 Level: PT Classification code 10077945 Term: GNE myopathy System Organ Class: 10010331 - Congenital, familial and genetic disorder
Conditions
Interventions
Product Name: INN: aceneuramic acid
Common Name: Sialic Acid
Product Code: UX001
Pharmaceutical Form: Tablet
INN or Proposed INN: ACENEURAMIC ACID
CAS Number: 131-48-6
Current Sponsor code: UX001
Other descriptive name: sialic acid, N-a
Sponsors
Ultragenyx Pharmaceutical Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Have completed the UX001-CL301 or UX001-CL203 study 2. 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 3. Willing to comply with all study procedures 4. Female participants of child-bearing potential or male participants with female 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 30 days after last dose of study drug 5. 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 Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 165 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1. Ingestion of N-acetyl-D-mannosamine (ManNAc) 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 2. 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 3. Pregnant or breastfeeding at Screening or planning to become pregnant (self or partner) at any time during the study 4. Use of any investigational product (except for Ace-ER/SA-ER as part of the parent study) 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 5. 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 6. 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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Evaluate the long-term safety of Ace-ER treatment in subjects with GNE Myopathy;Secondary Objective: Overall Efficacy Endpoints: Evaluate the long-term effect of 6 g/day of Ace-ER treatment in subjects with GNEM. Efficacy will be evaluated as follows: Enrolling from UX001-CL301: • Muscle strength as measured by dynamometry • Mobility, strength, and function using a series of physical performance measures • Functional disability using an patient- and clinician-reported questionnaire For Subjects Enrolling from UX001-CL203: • Change in GNEM-FAS Expanded Version total score and mobility, upper extremity and self-care domain scores • Change in upper extremity strength in grip, key pinch, shoulder abductors and wrist extensors and in lower extremity muscle strength in the knee extensors as measured by dynamometry • Evaluate the effect on 6g/day Ace-ER on health-related quality of life (HRQoL), patient reported outcomes (PRO), and biomarkers of sialyation;Primary end point(s): Overall Safety Endpoint (Primary Endpoint): Evaluate the long-term safety of 6 g/day Ace-ER treatment in subjects with GNE Myopathy;Timepoint(s) of evaluation of this end point: Evaluation for all subjects at 2, 4, 6, 12, 18, and 24 Months. A safety follow-up at visit to be conducted by phone 30 days (+/- 5 days) after last dose. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): Overall Efficacy Endpoint: Evaluate the long-term effect of 6 g/day of Ace-ER treatment in subjects with GNEM. Efficacy will be evaluated as follows: For Subjects Enrolling from UX001-CL301: • Muscle strength as measured by dynamometry • Mobility, strength, and function using a series of physical performance measures • Functional disability using an patient- and clinician-reported questionnaire For Subjects Enrolling from UX001-CL203: • Change in GNEM-FAS Expanded Version total score and mobility, upper extremity and self-care domain scores • Change in upper extremity strength in grip, key pinch, shoulder abductors and wrist extensors and in lower extremity muscle strength in the knee extensors as measured by dynamometry • Evaluate the effect on 6g/day Ace-ER on health-related quality of life, patient reported outcomes (PRO), and biomarkers of sialyation;Timepoint(s) of evaluation of this end point: Subjects Rolling Over from CL301 timepoints are 2, 4, 6, 12, 18, and 24 Months Subjects Rolling Over from CL203 timepoints are 6, 12, 18, and 24 Months | — |
Countries
Bulgaria, Canada, France, Israel, Italy, United Kingdom, United States
Contacts
Public ContactClinical operations
Ultragenyx Pharmaceutical Inc.
Outcome results
None listed