September 6, 2024
The FamilieSCN2A Research Roundtable: A Family Perspective
by Kellie Woodhouse and Jonathan DuCharme
Our family first found out about our daughter Adeline’s SCN2A diagnosis in an online message. The message had been sitting in her ...
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September 3, 2024
Promising Initial Relutrigine (Prax-562) Clinical Data
The initial phase 2 data for Relutrigine (Prax-562) looks promising for our community, and the update that the trial is expanding to a registrational trial (instead of starting a new study) is good news because it could mean ...
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October 3, 2023
Positive Step Towards a Treatment for SCN2A Gain-of-Function Patients
First in-human data for PRAX-222, an antisense oligonucleotide (ASO) in development for SCN2A gain-of-function was reported during a Praxis R&D day ...
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27 January, 2022
Building Towards A Cure: 2022
by Angie Auldridge
With International SCN2A Awareness Day fast approaching, we are reflecting on the progress made last year and turning our attention to the new year filled with hope and possibility. Despite the challenges of 2021, the FamilieSCN2A Foundation thrived ...
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27 December, 2021
Not So Happy Holidays
by Michelle Lewis
During the holiday season leading up to Eliana’s birth, I can remember that excited feeling of knowing that from this point forward, the holidays were going to be so much different. They would now include playing in the snow, baking cookies and candies ...
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10 December, 2021
Industry Relations Updates
by Shawn Egan, PhD, BOD FamilieSCN2A Foundation
Longboard Pharmaceuticals plans to initiate a phase 1b/2a* clinical study for their drug LP352 sometime between January 1st and March 31 of 2022. This will be a basket study (enrolling many different Developmental ...
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22 October, 2021
It Takes a Village
by Michelle Lewis
After Eliana was born, we spent five months in the NICU of our local children’s hospital. I quickly realized how isolating our new journey was going to be. Research has shown that people who have unique experiences tend to report less positive feelings and a sense of exclusion compared to those who ...
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20 July, 2021
Expanded Access Programs, What You Need to Know
by Shawn Egan, PhD, BOD FamilieSCN2A Foundation
Expanded Access Program May Offer Drug Access to SCN2A Kiddos Prior to a Potential Drug Approval – Praxis has disclosed that they will be opening an Expanded ...
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23 June, 2021
Why I Study SCN2A
by Michael Coulter, MD, PhD
I’m a neuroscience postdoctoral researcher in the lab of Loren Frank at UCSF. I’m fascinated by Scn2a because I want to understand the mechanism of Scn2a loss of function disorder and develop new treatments. During my MD/PHD training, I studied genetic causes of autism spectrum ...
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13 May, 2021
Decisions, Decisions, Decisions
by Michelle Lewis, FamilieSCN2A Foundation Vice President
As a parent of a non-verbal, non-ambulatory child I am forced to make decisions for her on a daily basis—what clothes will she wear, when and with what toys will she play, and the list ...
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25 March, 2021
Three SCN2A programs in development and their CIITIZEN partnership
by Shawn Egan, Ph.D. (parent to a child with SCN2A-DEE and extensive experience as a Biotech Equity Research Analyst)
Praxis Precision Medicines, Inc updated our SCN2A community on the status of their ...
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10 March, 2021
Finding Your Voice
by Michelle Lewis, FamilieSCN2A Foundation Vice President
On a cold January morning during the first week of what, unbeknownst to me, would become a 5 month long stay at our local children’s hospital NICU, I was holding my daughter when I noticed......
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