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1 day ago

CLINICAL TRIAL READINESS - 2020

What we are doing to prepare for clinical trials:

1. Natural History Study and the understanding of SCN2A Biomarkers

In rare disease there is a need to be able to accurately define the profile, characteristics, and disease outcomes of the target patient populations. This is where natural history studies play a key role for all stakeholders.

Biomarkers are an integral part of natural history studies.

Contact: scn2a@mrci.edu.au for further information

2. Launching International/Regional SCN2A database (Australia, NZ, Asia)

3. Working with regional government and rare disease agencies to best prepare for access to potential treatments.

4. Working with researchers and industry developing potential treatments to ensure the patient voice is part of trial development.

#SCN2A #scn2aclincialtrial #scn2aaso #CureSCN2A

Figure: Visually summarizes the relevance and connection of the elements that drive the regulatory and ethics pathways, showing how study objectives, geography, and genetic testing all play a role in the type of studies required for treatments of rare diseases.

Sources: Natural History Studies in Rare Diseases and Genetic Biomarkers; A. Beven et al. ... See MoreSee Less

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SCN2A Australia

2 days ago

ONE YEAR OLD TODAY.

A year ago today we launched SCN2A Australia with the hope of having a positive impact on the lives of those affected with SCN2A. It has a been a big year! One of great learning and growth both personal and for the organisation!

Some of our achievements across the year:

Launched the SCN2A podcast SCN2A Insights
Launched SCN2A Webinar Series
Supported (and shared) the ongoing research here in Australia at
- The Florey Institute of Neuroscience and Mental Health
- Murdoch Children's Research Institute
- The Royal Children's Hospital, Melbourne

Worked with local and global experts in rare disease
- Global Genes - RGALS Committee and on the 2020 summit organising committee.
- Genetic Epilepsy Team Australia - GETA - annual conference and inaugural roundtable
- Participated in the Epilepsy Precision Medicine in Washington
- Contributor to the Kids to Adults: Chronic Illness Alliance

And 2020, is one of more hope for our community with potential clinical trials for a repurposed medication for uncontrolled seizures (details yet to be released) and much talked about, gene therapy in the form of an ASO for gain of function variants (details yet to be released). We are working closely with all stakeholders to ensure we are well placed to take part in any clinical trials. All information will be shared as we learn more about these projects and any others.

We also have a number of research projects which are looking at improving the care of those affected by DEE's and making access easier and more streamlined..

Thank you to Rare Voices Australia @global genes Epilepsy Foundation of Australia for your support without this we would not be in position to expand and grow out reach. ... See MoreSee Less

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