Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)

NCT ID: NCT02736188

Last Updated: 2023-03-24

Basic Information

• Recruitment Status: TERMINATED
• Clinical Phase: PHASE3
• Total Enrollment: 143 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2016-05-02
• Study Completion Date: 2018-01-10

Brief Summary

The objective of this study is to evaluate the long-term safety and efficacy of Ace-ER treatment in subjects with GNEM.

Detailed Description

This Phase 3b extension study will assess the long-term safety of Ace-ER in patients who participated in and completed study UX001-CL301 (NCT02377921), study UX001-CL202 (NCT01830972), and study UX001-CL203 (NCT02731690).

Conditions

Hereditary Inclusion Body Myopathy; Distal Myopathy With Rimmed Vacuoles; Distal Myopathy, Nonaka Type; GNE Myopathy; Quadriceps Sparing Myopathy

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Drug: Aceneuramic Acid Extended-Release Tablets

Participants will take 4 tablets (500 mg Ace-ER each for 2 g per dose) orally 3 times per day (TID).

Group Type: EXPERIMENTAL

Aceneuramic Acid Extended-Release Tablets

Intervention Type: DRUG

Interventions

Aceneuramic Acid Extended-Release Tablets

Intervention Type: DRUG

Other Intervention Names

UX001; Sialic Acid Extended Release; Ace-ER

Eligibility Criteria

Inclusion Criteria

• Have completed UX001-CL202, UX001-CL301 or UX001-CL203 study
• 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
• Willing to comply with all study procedures
• 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
• 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) 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
• Has had any hypersensitivity to sialic acid (SA) or its excipients that, in the judgment of the investigator, places the subject at increased risk for adverse effects
• 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

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

Sponsors

Ultragenyx Pharmaceutical Inc

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Medical Director

Role: STUDY_DIRECTOR

Ultragenyx Pharmaceutical Inc

Locations

UCLA

Los Angeles, California, United States

University of California, Irvine

Orange, California, United States

Washington University School of Medicine, St. Louis

St Louis, Missouri, United States

New York University School of Medicine

New York, New York, United States

Icahn School of Medicine at Mount Sinai

New York, New York, United States

UMHAT Alexandrovska, Bulgaria

Sofia, , Bulgaria

McMaster University

Hamilton, Ontario, Canada

CHU La Réunion - site GHSR

Saint-Pierre, Reunion, France

Institut de Myologie GH Pitié-Salpêtrière

Paris, , France

Hadassah-Hebrew University Medical Center

Jerusalem, , Israel

University of Messina

Messina, , Italy

University of Milan

Milan, , Italy

Università Cattolica

Rome, , Italy

The Newcastle upon Tyne Hospitals

Newcastle upon Tyne, Tyne and Wear, United Kingdom

Countries

United States; Bulgaria; Canada; France; Israel; Italy; United Kingdom

Provided Documents

Document Type: Study Protocol

View Document

Document Type: Statistical Analysis Plan

View Document

Other Identifiers

UX001-CL302

Identifier Type: -

Identifier Source: org_study_id