The global FKRP patient registry The International Registry for patients with FKRP mutations was officially launched on 1st March 2011. The registry is a patient initiated registry and designed for patients with LGMD2I, MDC1C or other conditions caused by a mutation in the FKRP gene. The FKRP registry is aimed at both, collecting data for […]
Title: Australian National Duchenne Muscular Dystrophy Registry Description:The availability of health information via the internet has become a critical resource for clinicians, researchers and affected families. Parents and advocacy groups have also become increasingly aware of international registries that provide opportunities for children to access new therapies through clinical trials. In Australia, Duchenne muscular dystrophy […]
These guidelines outline how to prepare biopsy kits to provide to clinical staff, how to send the specimens, how to process the specimens, how to freeze tissue – critical pathways to ensuring that the tissue is of the highest quality for diagnosis.
Our goal is to ensure excellence in diagnostic methods and clinical management, and equal access to clinical trials and new therapies, for all individuals in Australia and New Zealand affected by neuromuscular disorders.
We can achieve our vision by establishing a cohesive, integrated neuromuscular network which enables people to work together across Australia and New Zealand, for the well-being of patients.