A study to see if Aceneuramic Acid is safe in treating people with GNE Myopathy (GNEM) patients (a rare muscle disease also known as Hereditary Inclusion Body Myopathy (HIBM)) with severe ambulatory impairment.

Phase 1

• Conditions: 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: 20.0Level: LLTClassification code 10075048Term: Hereditary inclusion body myopathySystem Organ Class: 10010331 - Congenital, familial and genetic disorders; 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: EUCTR2015-004553-41-BG
• Lead Sponsor: ltragenyx Pharmaceutical Inc.

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2016-09-14
• Last Update Posted: 5 February 2018

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 45

Inclusion Criteria

1. Male or female, aged = 18 years old
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. Have a documented diagnosis of GNEM, HIBM, distal myopathy with rimmed vacuoles (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).
4. Should meet the criteria for severe ambulatory impairment defined below:
• Unable to rise from a seated position to standing without help from another person, assistive device(s), stationary object, or other support
AND
• Unable to walk without the assistance of another person OR if able to walk (use of assistive device(s) permitted), requires at least 2 minutes to walk 40 meters (one full lap of the 6MWT course)
AND
• Use of wheelchair or scooter for activities outside of the home or unable to leave the home independently
5. Willing and able to comply with all study procedures
6. Participants of childbearing potential or with partners of childbearing potential who have not undergone a bilateral salpingooophorectomy and are sexually active must consent to use highly effective method of contraception as determined by the site investigator (i.e. oral hormonal contraceptives, patch hormonal contraceptives, vaginal ring, intrauterine device, physical doublebarrier 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
7. 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 salpingooophorectomy
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 43
F.1.3 Elderly (>=65 years) yes
F.1.3.1 Number of subjects for this age range 2

Exclusion Criteria

1. 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
2. Prior participation in a clinical trial involving treatment with Ace-ER/placebo and/or Sialic Acidimmediate release (SA-IR) in the past year
3. 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
4. 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
5. Pregnant or breastfeeding at Screening or planning to become pregnant (self or partner) at any time during the study
6. 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
7. 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
8. 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