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A study to see if aceneuramic acid is safe and effective in treating people with Hereditary Inclusion Body Myopathy (HIBM), a rare muscle disease.

Phase 1
Conditions
GNE Myopathy, also known as Hereditary Inclusion Body Myopathy(HIBM), Distal Myopathy with Rimmed Vacuoles (DMRV), Nonaka'sdisease, or quadriceps sparing myopathy (QSM)
MedDRA version: 20.0Level: LLTClassification code 10075048Term: Hereditary inclusion body myopathySystem Organ Class: 100000167584
MedDRA version: 20.0Level: PTClassification code 10077945Term: GNE myopathySystem Organ Class: 10010331 - Congenital, familial and genetic disorders
Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05]
Registration Number
EUCTR2016-000360-42-GB
Lead Sponsor
ltragenyx Pharmaceutical Inc.
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
ot Recruiting
Sex
All
Target Recruitment
143
Inclusion Criteria

1. Have completed the UX001-202, 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

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

Study & Design

Study Type
Interventional clinical trial of medicinal product
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod
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