ot available

Phase 1

Active, not recruiting

• 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: 100000004850; Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05]

• Registration Number: EUCTR2014-005432-33-IT
• Lead Sponsor: TRAGENYX PHARMACEUTICAL INC.

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Completion: 2017-06-09
• Study Start: 2021-01-19
• Last Update Posted: 17 August 2021

Recruitment & Eligibility

• Status: Not Recruiting
• Sex: All
• Target Recruitment: 89

Inclusion Criteria

1) Male or female, aged 18 - 50 years, inclusive
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, 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) 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
5) 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)
6) Willing and able to comply with all study procedures
7) Participants of child-bearing potential or with partners of childbearing
potential who have not undergone a bilateral salpingooophorectomy
and are sexually active must consent to use an 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) from the period following the signing of the
informed consent through 3 months after last dose of study drug
8) 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 89
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), 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) History of more than 30 days treatment with SA-ER and/or SA-IR in
prior clinical trials 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