Data Entry Maintenance

Metadata Commons Identifier

HMC000086

Project Title

Dysferlinopathy

Project Description

Dysferlinopathy is a rare neuromuscular disease caused by deficiency in the dysferlin protein that results in skeletal muscle death and subsequent muscle weakness of the limbs that eventually leads to the inability to walk and independently perform activities of daily living. Due to the rare nature of the disease, the molecular signatures that differentiate patients from healthy people, as well as different clinical stages of the disease, have not been defined.  The aim of this study was to identify blood-based biomarker signatures with potential for assessing the efficacy of emerging therapies in dysferlinopathy. Biomarker discovery was performed to identify mRNAs, miRNAs, and proteins that differ between patients and healthy controls and between ambulant and non-ambulant disease stages. Ensembling was applied to combine signatures from the different compartments to improve upon the performance of the individual platforms. Finally, protein biomarkers were replicated on a clinically relevant platform and tested in an external cohort. Related metadata: HMC000089

Project Funder(s)

Jain Foundation

Project Institution(s)

Project Investigator(s)

Laura Rufibach, Douglas Albrecht, Bradley Williams, Janet Wilson-McManus, Bruce McManus, Raymond Ng, Zsuzsanna Hollander

Data Access Request URL*

Keywords

limb-girdle muscular dystrophy 2B, LGMD2b, limb girdle muscular dystrophy type R2, LGMDR2, Miyoshi Myopathy type 1, MMD1, dysferlinopathy

Publication Link

Study Completed

Cohort Name

Dysferlinopathy

Cohort Size

Disease/Condition Studied

limb-girdle muscular dystrophy, dysferlinopathy, autosomal recessive limb-girdle muscular dystrophy type 2B

Enrollment Time Window

2014-2015

Biobanking Consent Available

Medical History Available

Ethnicity Availability

Time Course

Patient Phenotypes

advanced disease (non-ambulatory) and highly ambulatory patients

Patient Outcomes

Clinical Data Types Available

disease conditions, medications

Time Course Data Points

Enrollment City

Groups

Project

Cohort

Enrollment City

Groups

Samples and Omics