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About 268 results

ALLMedicine™ Inclusion Body Myopathy Center

Research & Reviews  102 results

Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcrip...
https://doi.org/10.1111/nan.12818
Neuropathology and Applied Neurobiology; Ferrari V, Cristofani R et. al.

May 3rd, 2022 - Mutations in the valosin-containing protein (VCP) gene cause various lethal proteinopathies that mainly include inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) and amyotrophic lateral sclerosis (ALS). Diff...

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscula...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9050844
Nature Communications; Kim HJ, Mohassel P et. al.

Apr 29th, 2022 - Missense variants in RNA-binding proteins (RBPs) underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Here, we present ten independent families with a severe, pro...

The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodege...
https://doi.org/10.1016/j.nbd.2022.105722
Neurobiology of Disease; Johnson MA, Klickstein JA et. al.

Apr 12th, 2022 - The 2021 VCP Scientific Conference took place virtually from September 9-10, 2021. This conference, planned and organized by the nonprofit patient advocacy group Cure VCP Disease, Inc. (https://www.curevcp.org), was the first VCP focused meeting s...

Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene vari...
https://doi.org/10.1016/j.ejmg.2022.104480
European Journal of Medical Genetics; Choy N, Wang S et. al.

Mar 21st, 2022 - Inclusion Body Myopathy, Paget's Disease of Bone, with Frontotemporal Dementia is a progressive autosomal dominant disease that affects the ubiquitin-proteasome complex, that is caused by variants in the Valosin Containing Protein (VCP) gene. We r...

An enrichment of rare variants and the lysosomal pathways are important contributors to...
https://doi.org/10.1002/alz.055341
Alzheimer's & Dementia : the Journal of the Alzheimer's A... Fernandez V, Pottier CP et. al.

Feb 4th, 2022 - A limited number of studies have looked at the genetics of early onset (≤65 years old) Alzheimer disease (EOAD); hence, there is much unidentified heritability contributing to this form of the disease. This study aims to identify novel genes assoc...

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Clinicaltrials.gov  4 results

Intravenous Immune Globulin to Treat Hereditary Inclusion Body Myopathy
https://clinicaltrials.gov/ct2/show/NCT00195637

Dec 4th, 2019 - Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive neuromuscular disorder with onset in early adulthood and progressive muscle weakness leading to death within 2-3 decades. The causative gene, GNE, codes for the bifunctional enzym...

Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM)
https://clinicaltrials.gov/ct2/show/NCT02377921

Jun 27th, 2019 - The primary objective of this study is to evaluate the effect of 6 g/day aceneuramic acid extended-release (Ace-ER) treatment of participants with GNEM on upper extremity muscle strength (upper extremity composite [UEC] score) as measured by dynam...

GNE-Myopathy Disease Monitoring Program (GNEM-DMP): A Registry and Prospective Observational Natural History Study to Assess GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)
https://clinicaltrials.gov/ct2/show/NCT01784679

Apr 27th, 2018 - The main objective of this program is to better understand HIBM. The specific HIBM Disease Registry's objectives are to: Understand the geographic distribution and regional incidence/prevalence of GNEM. Obtain an assessment of the medical history,...

Phase I Clinical Trial of ManNAc in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy (HIBM)
https://clinicaltrials.gov/ct2/show/NCT01634750

Oct 19th, 2017 - Hereditary inclusion body myopathy (HIBM) is an autosomal recessive, neuromuscular disorder characterized by progressive muscle weakness with onset in early adulthood. The causative gene, GNE, codes for the bifunctional enzyme uridine diphospho-N-...

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News  1 results

Clinical Notes: GI Bug Sickens German Kids
https://www.medpagetoday.com/infectiousdisease/generalinfectiousdisease/35037

Sep 30th, 2012 - Thousands of German schoolchildren fell ill last week, all of whom ate school lunches provided by the same catering company. Also this week: an anti-IL-17 drug shows promise in psoriasis. German Schoolkids Sickened by Lunches Nearly 7,000 schoolch...

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