P.3.1 GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence

Skrinar, Alison; Argov, Zohar; Caraco, Yoseph; Kolodny, Edwin H.; Lau, Heather; Pestronk, Alan; Shieh, Perry B.; Bronstein, F.; Esposito, A.; Feinsod-Meiri, Y.; Florence, Julaine; Fowler, Eileen; Greenberg, Marcia; Malkus, Elizabeth C.; Rebibo, O.; Siener, C.; Mayhew, J.

doi:10.1016/j.nmd.2013.06.426

Cited by 3 publications

(2 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To measure the actual decline of the function we used the patient reported outcome measure- the GNEM-FAS questionnaire, specifically designed for GNE myopathy and used in clinical research and trials [25] . For this report, measurable decline was determined at 4 time points over 2 years in ambulant and non-ambulant cohorts ( Fig.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

Pogoryelova

Cammish

Mansbach

et al. 2018

Neuromuscular Disorders

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

Pogoryelova

Cammish

Mansbach

et al. 2018

Neuromuscular Disorders

View full text Add to dashboard Cite

show abstract

“…In order to optimize care for GNE-CDG patients and also improve the design of clinical studies, the GNE Myopathy Functional Activity Scale (GNEM-FAS) was created [ 261 ]. This 25-item questionnaire was successfully applied to 47 subjects undergoing a Phase 2 study with extended release SA [ 261 ]. Another study of natural history in a cohort of 24 Japanese GNE-CDG patients was reported by Mori-Yoshimura et al [ 262 ].…”

Section: Observational and Interventional Clinical Trialsmentioning

confidence: 99%

CDG Therapies: From Bench to Bedside

Brasil

Pascoal

Francisco

et al. 2018

IJMS

View full text Add to dashboard Cite

Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 different disorders have been reported and the number is rapidly increasing. Since glycosylation is an essential post-translational process, patients present a large range of symptoms and variable phenotypes, from very mild to extremely severe. Only for few CDG, potentially curative therapies are being used, including dietary supplementation (e.g., galactose for PGM1-CDG, fucose for SLC35C1-CDG, Mn2+ for TMEM165-CDG or mannose for MPI-CDG) and organ transplantation (e.g., liver for MPI-CDG and heart for DOLK-CDG). However, for the majority of patients, only symptomatic and preventive treatments are in use. This constitutes a burden for patients, care-givers and ultimately the healthcare system. Innovative diagnostic approaches, in vitro and in vivo models and novel biomarkers have been developed that can lead to novel therapeutic avenues aiming to ameliorate the patients’ symptoms and lives. This review summarizes the advances in therapeutic approaches for CDG.

show abstract

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study

Argov

Caraco

Lau

et al. 2016

JND

View full text Add to dashboard Cite

Background: GNE Myopathy (GNEM) is a progressive adult-onset myopathy likely caused by deficiency of sialic acid (SA) biosynthesis.Objective: Evaluate the safety and efficacy of SA (delivered by aceneuramic acid extended-release [Ace-ER]) as treatment for GNEM.Methods: A Phase 2, randomized, double-blind, placebo-controlled study evaluating Ace-ER 3 g/day or 6 g/day versus placebo was conducted in GNEM subjects (n = 47). After the first 24 weeks, placebo subjects crossed over to 3 g/day or 6 g/day for 24 additional weeks (dose pre-assigned during initial randomization). Assessments included serum SA, muscle strength by dynamometry, functional assessments, clinician- and patient-reported outcomes, and safety.Results: Dose-dependent increases in serum SA levels were observed. Supplementation with Ace-ER resulted in maintenance of muscle strength in an upper extremity composite (UEC) score at 6 g/day compared with placebo at Week 24 (LS mean difference +2.33 kg, p = 0.040), and larger in a pre-specified subgroup able to walk ≥200 m at Screening (+3.10 kg, p = 0.040). After cross-over, a combined 6 g/day group showed significantly better UEC strength than a combined 3 g/day group (+3.46 kg, p = 0.0031). A similar dose-dependent response was demonstrated within the lower extremity composite score, but was not significant (+1.06 kg, p = 0.61). The GNEM-Functional Activity Scale demonstrated a trend improvement in UE function and mobility in a combined 6 g/day group compared with a combined 3 g/day group. Patients receiving Ace-ER tablets had predominantly mild-to-moderate AEs and no serious adverse events.Conclusions: This is the first clinical study to provide evidence that supplementation with SA delivered by Ace-ER may stabilize muscle strength in individuals with GNEM and initiating treatment earlier in the disease course may lead to better outcomes.

show abstract

P.3.1 GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence

Cited by 3 publications

References 0 publications

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

Phenotypic stratification and genotype–phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion

CDG Therapies: From Bench to Bedside

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study

Contact Info

Product

Resources

About