It was a pleasure to attend the International Rett Syndrome Foundation (IRSF) scientific meeting held in Nashville June 5-7, 2023. The meeting consisted of both poster and oral presentation sessions and breakout discussions focused on basic, translational, and clinical work on Rett syndrome. Between sessions, attendees had ample time to connect, break down barriers, and forge new partnerships to advance toward treatments and a cure for Rett syndrome.
O.R.S.A. was well represented and acknowledged as an advocacy partner during the 3-day meeting. Our very own Canadian researcher from the Hospital for Sick Children, Dr. James Ellis, (2023 Hope Fund Grant Recipient) presented his research and acknowledge the funding contributions made by O.R.S.A. to support his work.
Valuable knowledge was gained, and connections were made with clinicians, researchers and pharmaceutical companies. Face-to-face meeting with the representatives from both Taysha Gene Therapies and Acadia Pharmaceuticals Inc has energized our commitment to our community as new promising therapies become available. We will continue our mission to build healthy tomorrow by investing efforts in advocating for treatments to be available in Canada.
As you may have heard, the 1st patient to be dosed with gene therapy happened in Canada under Taysha Gene Therapies clinical trial. The buzz and excitement was palpable during the conference. This was a momentous day for Rett syndrome community. The potential for a treatment that addresses the underlying cause of disease and slows progressions or potentially prevents the onset of disease with early intervention is truly remarkable.
Hope is alive and well for the future of Rett syndrome. With the commitment and dedication of so many, one day we will have available precision medicine where families can choose what treatment will be best for their loved one. This reality is near and I for one am extremely excited about what’s to come.
Many thanks for this opportunity to attend this meaningful meeting.
With Hope,
Sabrina Millson
AGENDA
JUNE 5TH — MOLECULAR AND CELLULAR FUNCTIONS OF MECP2
SESSION 1: MECP2 BASIC AND SURPRISING FUNCTIONS
SESSION 2: CONTROL OF MECP2 (OVER)EXPRESSION
SESSION 3: MECP2 OUTSIDE OF ITS COMFORT ZONE
JUNE 6TH – THERAPEUTIC APPROACHES FOR RETT SYNDROME
SESSION 4: INSIGHTS FROM AFFECTED FAMILIES & OTHER DISORDERS
SESSION 5: INNOVATIVE THERAPIES
SESSION 6: OUTCOME MEASURES AND BIOMARKERS
JUNE 7TH — TREATMENTS ON THE HORIZON FOR RETT SYNDROME
THE KEYNOTE SPEAKERS:
Michelle Campbell, PhD
FDA (CDER) – Office of Neuroscience As the Associate Director for Stakeholder Engagement & Clinical Outcomes, Dr. Campbell directs patient-focused drug development and the use of patient experience data in the regulatory setting.
Nathaniel Heintz, PhD
The Rockefeller University Dr. Heintz has conducted ground-breaking research on the complexity of mammalian brain function and is known for his extensive characterization of the cells that make up the CNS.
Katherine High, MD
The Rockefeller University Dr. High is a leader in the gene therapy field and co-founder of Spark Therapeutics, where she spearheaded the development of the first FDA approved AAV gene therapy (Luxturna).
Rudolf Jaenisch, MD
Whitehead Institute A pioneer in the field of epigenetics and transgenics, Dr. Jaenisch developed one of the first mouse models of RTT and has conducted pivotal studies on the biology of Rett syndrome.
Jeannie Lee, MD, PhD
Massachusetts General Hospital Dr. Lee has paved the way for X-chromosome reactivation as a potential therapeutic strategy for Rett syndrome by conducted fundamental research on the role of RNA in epigenetic silencing.
Huda Zoghbi, MD
Baylor College of Medicine
Landmark work from Dr. Zoghbi’s lab identified mutations in MeCP2 as the underlying cause of Rett syndrome, a discovery that catapults the field forward to this day
2023 IRSF Scientific Meeting Review
Last Updated: 08/28/2023 by Sabrina Millson
Dear Members:
It was a pleasure to attend the International Rett Syndrome Foundation (IRSF) scientific meeting held in Nashville June 5-7, 2023. The meeting consisted of both poster and oral presentation sessions and breakout discussions focused on basic, translational, and clinical work on Rett syndrome. Between sessions, attendees had ample time to connect, break down barriers, and forge new partnerships to advance toward treatments and a cure for Rett syndrome.
O.R.S.A. was well represented and acknowledged as an advocacy partner during the 3-day meeting. Our very own Canadian researcher from the Hospital for Sick Children, Dr. James Ellis, (2023 Hope Fund Grant Recipient) presented his research and acknowledge the funding contributions made by O.R.S.A. to support his work.
Valuable knowledge was gained, and connections were made with clinicians, researchers and pharmaceutical companies. Face-to-face meeting with the representatives from both Taysha Gene Therapies and Acadia Pharmaceuticals Inc has energized our commitment to our community as new promising therapies become available. We will continue our mission to build healthy tomorrow by investing efforts in advocating for treatments to be available in Canada.
As you may have heard, the 1st patient to be dosed with gene therapy happened in Canada under Taysha Gene Therapies clinical trial. The buzz and excitement was palpable during the conference. This was a momentous day for Rett syndrome community. The potential for a treatment that addresses the underlying cause of disease and slows progressions or potentially prevents the onset of disease with early intervention is truly remarkable.
Taysha Gene Therapies Announces First Patient Dosed with TSHA-102 in the REVEAL Phase 1/2 Trial Under Investigation for the Treatment of Rett Syndrome | Taysha Gene Therapies (tayshagtx.com)
Also, Nature Medicine Published Results from Pivotal Phase 3 LAVENDER™ Study Evaluating DAYBUE™ (trofinetide) Efficacy and Safety in Patients with Rett Syndrome. Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study | Nature Medicine
Hope is alive and well for the future of Rett syndrome. With the commitment and dedication of so many, one day we will have available precision medicine where families can choose what treatment will be best for their loved one. This reality is near and I for one am extremely excited about what’s to come.
Many thanks for this opportunity to attend this meaningful meeting.
With Hope,
Sabrina Millson
AGENDA
THE KEYNOTE SPEAKERS:
- FDA (CDER) – Office of Neuroscience As the Associate Director for Stakeholder Engagement & Clinical Outcomes, Dr. Campbell directs patient-focused drug development and the use of patient experience data in the regulatory setting.
Nathaniel Heintz, PhD- The Rockefeller University Dr. Heintz has conducted ground-breaking research on the complexity of mammalian brain function and is known for his extensive characterization of the cells that make up the CNS.
Katherine High, MD- The Rockefeller University Dr. High is a leader in the gene therapy field and co-founder of Spark Therapeutics, where she spearheaded the development of the first FDA approved AAV gene therapy (Luxturna).
Rudolf Jaenisch, MD- Whitehead Institute A pioneer in the field of epigenetics and transgenics, Dr. Jaenisch developed one of the first mouse models of RTT and has conducted pivotal studies on the biology of Rett syndrome.
Jeannie Lee, MD, PhD- Massachusetts General Hospital Dr. Lee has paved the way for X-chromosome reactivation as a potential therapeutic strategy for Rett syndrome by conducted fundamental research on the role of RNA in epigenetic silencing.
Huda Zoghbi, MDCategory: News, What's New Tags: 2023, Scientific