Blog Archives - SCN2A Australia

Gene editing with CRISPR

David Cunnington
December 26, 2019
Blog
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What is CRISPR? How does it work? Is it ready for use in humans? Hear about CRISPR in this episode of the 'Health Report' podcast.

Hot topics in autism research in 2019

David Cunnington
December 25, 2019
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This year has been a big year in autism research, with advances in understanding the biology of autisum using models such as organiods.

Neurons from mice missing SCN2A (right) have signal-receiving branches that are less mature than those in controls (left).

Loss-of-function SCN2A mutations

David Cunnington
October 21, 2019
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The following work from Assistant Prof. Kevin Benders lab was presented on the 20th of October in Chicago, at Neuroscience 2019 held by Society for Neuroscience (SFN). A bit about…

Natural History Study in SCN2A

Kris Pierce
February 10, 2019
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The SCN2A International Natural History Study (NHS) is comprised of clinicians collaborating from multiple academic institutions, including US, European and Australian based clinicians. Dr. Katherine Howell, from the Royal Children's…

The Florey Institute – SCN2A team

Kris Pierce
January 29, 2019
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Today we are introducing the SCN2A research team at the Florey Institute. The team is lead by Prof Steven Petrou, Director of Florey Institute. The team has been developing a…

Welcome to SCN2A Australia

Kris Pierce
January 26, 2019
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Happy Australia Day! Today we launch SCN2A Australia. We look forward to working with families, researchers, clinicians and professional bodies to improve the lives of those who have SCN2A and…

SCN2A Australia

19 hours ago

Praxis Announcement Update:

Read the article below where our own, Prof Steve Petrou speaks about why this is so important. FDA have now recognised SCN2A as a rare disease requiring treatment options which will assist any future applications for SCN2A.

SCN2A Australia have been working with RogCon and then Praxis, over the past few years to ensure the SCN2A communities voice is included in development of these important developments.

PRAX-222 is an antisense oligonucleotide that is designed to lower the expression levels of the protein encoded by the SCN2A gene in patients with SCN2A gain-of-function epilepsy. The program is ongoing under a three-way collaboration with Ionis Pharmaceuticals and RogCon and is currently being evaluated in IND-enabling studies.

PRAX-562 is a selective small molecule and is the first persistent sodium current blocker in development for the treatment of a wide range of rare CNS disorders. The clinical development plan for PRAX-562 involves exploring the broad potential for the mechanism of action in rare diseases through proof-of-concept trials in two rare types of cephalgia, and then expanding into a range of rare pediatric DEEs. PRAX-562 is currently being evaluated in a phase 1 clinical trial in adult healthy volunteers.

“The potential broad utility of PRAX-562 in DEEs and other rare CNS disorders and the precision therapy approach of PRAX-222 represent two differentiated and potentially complementary treatment paradigms inspired by human genetics,” said Steven Petrou, co-founder and chief scientific officer of Praxis. “The FDA granting these designations is an acknowledgement of the critical need to develop treatments for children living with these devastating diseases.”

Grateful to work with Global Genes - thank you for sharing this exciting news for our SCN2A community.

#raredisease #chronicillness #hope #rarediseaseadvocacy #CareAboutRare #rarediseaseawareness #GlobalGenes #SCN2A #SCN2aResearch #CureSCN2A

The Florey Institute of Neuroscience and Mental Health

globalgenes.org/2021/01/07/fda-grants-rare-pediatric-disease-designations-to-inversago-and-to-pra... ... See MoreSee Less

FDA Grants Rare Pediatric Disease Designations to Inversago and to Praxis Precision Medicines - Global Genes

globalgenes.org

Rare Daily Staff The U.S. Food and Drug Administration granted Rare Pediatric Disease designation to Praxis Precisions Medicines for two different experimental therapies to treat rare developmental an...

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SCN2A Australia

4 days ago

SCN2A is fortunate to have a global research team working on our NHS but we need more families to participate. If you need to hear more why the NHS is so important you can attend this webinar to understand further.

Contact details for the NHS are in the comments.

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Webinar | Natural history studies for rare diseases

Natural history studies for rare diseases: the importance of collecting real-world data from patients to enhance the development of therapies

Natural history studies are epidemiological studies to describe and understand the features and evolution of a disease by collecting real-world data from patients.

They are particularly key to the development of new therapies for rare diseases because the data can be interrogated to provide insights into the disease and patient populations, identify endpoints for measuring therapeutic efficacy and identify patients eligible for trials. In addition, natural history data can even be used as a historical comparator in single-arm trials.

In this 90-minute webinar, Findacure and Healx will be joined by speakers from industry, clinical research and patient groups to discuss:

-the importance of natural history studies to the rare disease community
-best practices and how to overcome challenges when designing meaningful natural history studies
-the implementation of novel technologies such as machine learning to enhance data collection in natural history studies
-examples of how the data from such studies can be applied to improve clinical trials and the pathway to therapeutic development ... See MoreSee Less

Webinar | Natural history studies for rare diseases

www.eventbrite.co.uk

Findacure is teaming up with AI-company Healx, to deliver an informative webinar on natural history studies in rare diseases.

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