In order to provide patients with rare genetic muscle diseases a lifelong support, Pangenia Center of Excellence (CoE) has been pooling talents and increasing resources in Research and Ddevelopment (R&D) in the area. At the same time, Pangenia CoE has been actively participating in institutional scientific research projects as belows.
This collaborative project is initiated in 2018 and collaborated with the Department of Paediatrics & Adolescent Medicine, HKU Li Ka Shing Faculty of Medicine. IRB has been approved in Jan 2021. The aim is of this project is to identify the possible causative genetic abnormalities of 200 rare disease patients and their family members.
|Facioscapulohumeral muscular dystrophy (FSHD)||6 families: 9 patients and 6 relatives||Molecular combing and FSHD Genomic Morse Code|
|Retinitis pigmentosa (RP)||15 families: 22 patients and 37 relatives||Whole genome sequencing (WGS) by NGS|
|Charcot-Marie-Tooth Disease (CMT)||7 families: 9 patients and 3 relatives||MLPA;|
|WGS for unresolved cases|
|Spinocerebellar ataxia (SCA)||6 families: 9 patients and 4 relatives||Multiplex-PCR;|
|WGS for unresolved cases|
|Mitochondrial myopathy||1 family: 1 patient and 9 unaffected relatives||Whole genome sequencing by NGS|
|Alport Syndrome||1 family: 1 patient and 4 relatives||Gene panel and Sanger sequencing|
World Health Organization (WHO) defines Clinical Trials are a type of research activity or intervention that studies new tests and treatments and evaluates their health outcomes on human beings. Medical interventions including drugs, cells and other biological products, surgical procedures, radiological procedures, devices, behavioral treatments and preventive care. Each clinical trial is carefully designed, reviewed and completed, and conducted ethically in order to protect patients against any adverse outcomes. It was documented that more than 60,000 clinical trials were registered worldwide in 2018.
Clinical trials are executed in four phases (information extracted from WHO and orpha.net):
GBC0905 has a potential to become a much-needed addition to the list of treatments for FSHD and we have been collaborated with Myocea Inc and planned to file the investigational new drug (IND) application for GBC0905 with the FDA in the third quarter of 2021 and initiate the clinical trials in early 2022.
The Biobank in PanRARE CoE is a biorepository of genetic materials and data of patients affected by rare genetic conditions. The biorepository contains in-depth genetic and health information of patients and most data are of Asian origin with proper patient consents. PanRARE Biobank is not only intended for research, but also for diagnostic and therapeutic purposes. Our biobank is regularly augmented with additional data and accessible to approved institutional researchers for the purpose of research and diagnosis. We hope to make use of our biobank to improve research on rare disease diagnosis and assist the development of new treatments or new technologies locally and globally.
PanRARE CoE has formed a strategic partnership with Myocea Inc. in orphan drug development on FSHD. Small molecule therapeutics GBC0905 has been granted an Orphan Drug Designation on May 2018 and IND is on track to be filed in the second half year of 2021.