P.O. Box 50030 London, ON N6A 6H8 info@rett.ca (519) 474-6877

Stronger Together Caregiver Conference

O.R.S.A. invites you to our 2023

Stronger Together Caregiver Conference

Date: October 20-22, 2023

Location: Ottawa, Ontario





Friday October 20 


7:00pm – 9:00 pm 

Meet and Greet  


Registration to obtain name tags, conference package 




Saturday October 21 





Registration to obtain name tags, conference package 





O.R.S.A. Information session 


Sabrina Millson, O.R.S.A. President 





Rett Syndrome Genetics 


Dr Victoria Siu, MD 





Transition into Adulthood 

Caitlin Cassidy, MD  




10:00 – 10:15am Break 




10:15– 12:00pm 

Medical Panel 

Renee Brannan, RN & Neurology Case Manager 


Dr Cassidy & Dr Siu 




12:00 – 1:00pm Lunch 





Communication and Literacy  


Karen Congram, Congram Education Consulting 





Communication and Literacy  


Karen Congram, Congram Education Consulting 




3:15 – 3:30pm Break




3:30 – 4:30pm 

Beyond bubble baths: Self-care for the long haul 


Julie Keon, RSSW 





Celebration Dinner 

Business Casual 


Networking and Awards 




Sunday October 22 




8:00 8:45am Breakfast 





Parent Panel  


Facilitated by Terry Boyd 




10:3010:45am Break 




10:45 – 11:30am 

What is a clinical trial? 


Dr Elsa Rossignol, MD 




11:30– 12:00pm 



Taysha Gene Therapies  




12:00pm Wrap up and Lunch 





Presenting Sponsor

Silver Sponsor

Bronze Sponsor

2023 AGM Presentation sponsored by Acadia Pharmaceuticals

O.R.S.A. would like to thank, Acadia Pharmaceuticals, for sponsoring our 2023 Annual General Meeting (AGM) and participating as our guest speaker. To hear more about Acadia’s commitment to Canada and next steps, please watch the recorded presentation. 


Survey – Parents and Caregivers Conference

Friday October 20 to Sunday October 22, 2023

Ottawa Ontario 

(venue to be confirmed)

Draft Agenda

    • Friday evening – Care Givers, Speakers and Parents – Meet and Greet

    • Saturday (full day) – Medical Panel

    • Sunday (half day) – Parent Panel


  • Please complete the short survey to assist Education and Outreach Committees to plan your next Ontario Rett Syndrome Association conference!

Acadia acquires global rights to Trofinetide

Acadia Pharmaceuticals Acquires Ex-North American Rights to Trofinetide and Global Rights to Neuren’s NNZ-2591 in Rett Syndrome and Fragile X Syndrome

– Expanded agreement follows Acadia’s April 2023 U.S. launch of DAYBUE™ (trofinetide) as the first and only drug approved for the treatment of Rett syndrome

— Acadia provides DAYBUE launch update and announces second quarter preliminary net sales and guidance for third quarter

— Company to host conference call and webcast today at 4:30 p.m. Eastern Time

SAN DIEGO–(BUSINESS WIRE)– Acadia Pharmaceuticals Inc. (NASDAQ: ACAD) today announced that it has expanded its current licensing agreement for trofinetide with Neuren Pharmaceuticals to acquire ex-North American rights to the drug as well as global rights in Rett syndrome and Fragile X syndrome to Neuren’s development candidate NNZ-2591. In April of this year, Acadia launched trofinetide in the United States under the brand name DAYBUE as the first and only drug approved for the treatment of Rett syndrome.

“This expanded worldwide agreement solidifies Acadia’s position as the global leader in addressing the unmet needs of people with Rett syndrome,” said Steve Davis, Acadia’s President and Chief Executive Officer. “We have successfully delivered DAYBUE, the first FDA-approved therapy that treats the core symptoms of Rett syndrome, and are deeply committed to broadening access to this important therapy for patients worldwide.”

In addition to expanding access to trofinetide outside of North America, this agreement gives Acadia exclusive worldwide rights to NNZ-2591 in both Rett syndrome and Fragile X syndrome. NNZ-2591 is an investigational synthetic analogue of cyclo-glycyl-proline (cGP) which results from the breakdown of human insulin-like growth factor 1 (IGF-1). NNZ-2591 is currently under development by Neuren in four other rare neurodevelopmental syndromes.

Execution of this agreement advances Acadia’s corporate strategy to expand our rare disease business. This deal also enables Acadia to leverage insights from our successful U.S. launch of DAYBUE in other global territories. In addition, this expansion will further advance the global potential of Acadia’s current development portfolio.

Acadia intends to submit a New Drug Submission (NDS) for trofinetide in Canada in the next 18 months with plans for Europe, Asia and other regions to be announced at a later date.

Financial Terms

Under the terms of the expanded agreement, Neuren will receive an upfront payment of US $100 million and is eligible to receive additional potential downstream milestone and royalty payments earned separately for trofinetide and NNZ-2591.

Outside of North America, Neuren is eligible to receive additional payments for trofinetide upon the achievement of specified revenue milestones as follows:


First Commercial Sales Milestones

Total Sales Milestones(1)


$35M (Rett); $10M (2nd indication)

Up to $170M


$15M (Rett); $4M (2nd indication)

Up to $110M

Rest of World


Up to $83M




Each region’s sales milestones are divided into four distinct milestones based upon escalating annual net sales thresholds as defined in the agreement.

Neuren will also receive tiered royalties from the mid-teens to low-twenties percent of trofinetide net sales outside of North America. In North America, all milestones and royalties for trofinetide remain unchanged from Acadia’s previously existing North American license agreement with Neuren. Potential future payments to Neuren related to NNZ-2591 in Rett syndrome and Fragile X syndrome are identical to the payments for trofinetide in each of North America and outside North America.

Preliminary Second Quarter Revenues and Updated Guidance


  • DAYBUE 2Q 2023 preliminary net sales: $21 to $23 million.
  • DAYBUE 3Q 2023 net sales guidance: $45 to $55 million.


  • NUPLAZID 2Q 2023 preliminary net sales: $140 to $144 million.
  • NUPLAZID Full Year 2023 net sales guidance: $530 to $545 million.

Conference Call and Webcast Information

Acadia will discuss the exclusive worldwide licensing of trofinetide and NNZ-2591 via conference call and webcast today at 4:30 p.m. Eastern Time. The conference call will be available on Acadia’s website, www.acadia.com under the investors section and will be archived there until August 12, 2023. The conference call may also be accessed by registering for the call here. Once registered, participants will receive an email with the dial-in number and unique PIN number to use for accessing the call.

About Rett Syndrome

Rett syndrome is a rare, complex, neurodevelopmental disorder that may occur over four stages and affects approximately 6,000 to 9,000 patients in the U.S., with approximately 4,500 patients currently diagnosed according to an analysis of healthcare claims data.1-4 Worldwide, incidence rates for Rett syndrome are similar in countries across the globe, with prevalence varying according to population size, with the number of patients in Europe estimated to be larger and that of Japan’s smaller. A child with Rett syndrome exhibits an early period of apparently normal development until six to 18 months, when their skills seem to slow down or stagnate. This is typically followed by a duration of regression when the child loses acquired communication skills and purposeful hand use. The child may then experience a plateau period in which they show mild recovery in cognitive interests, but body movements remain severely diminished. As they age, those living with Rett may continue to experience a stage of motor deterioration which can last the rest of the patient’s life.3 Rett syndrome is typically caused by a genetic mutation on the MECP2 gene.5 In preclinical studies, deficiency in MeCP2 function has been shown to lead to impairment in synaptic communication, and the deficits in synaptic function may be associated with Rett manifestations.5-7

Symptoms of Rett syndrome may also include development of hand stereotypies, such as hand wringing and clapping, and gait abnormalities.8 Most Rett patients typically live into adulthood and require round-the-clock care.2,9

About DAYBUE™ (trofinetide)

Trofinetide is a synthetic version of a naturally occurring molecule known as the tripeptide glycine-proline-glutamate (GPE). The mechanism by which trofinetide exerts therapeutic effects in patients with Rett syndrome is unknown. In animal studies, trofinetide has been shown to increase branching of dendrites and synaptic plasticity signals.10,11

Important Safety Information for DAYBUE™ (trofinetide)

  • Warnings and Precautions
    • Diarrhea: In a 12-week study and in long-term studies, an aggregate of 85% of patients treated with DAYBUE experienced diarrhea. In those treated with DAYBUE, 49% either had persistent diarrhea or recurrence after resolution despite dose interruptions, reductions, or concomitant antidiarrheal therapy. Diarrhea severity was of mild or moderate severity in 96% of cases. In the 12-week study, antidiarrheal medication was used in 51% of patients treated with DAYBUE. Patients should stop taking laxatives before starting DAYBUE. If diarrhea occurs, patients should notify their healthcare provider, consider starting antidiarrheal treatment, and monitor hydration status and increase oral fluids, if needed. Interrupt, reduce dose, or discontinue DAYBUE if severe diarrhea occurs or if dehydration is suspected.
    • Weight Loss: In the 12-week study, 12% of patients treated with DAYBUE experienced weight loss of greater than 7% from baseline, compared to 4% of patients who received placebo. In long-term studies, 2.2% of patients discontinued treatment with DAYBUE due to weight loss. Monitor weight and interrupt, reduce dose, or discontinue DAYBUE if significant weight loss occurs.
  • Adverse Reactions: The common adverse reactions (≥5% for DAYBUE-treated patients and at least 2% greater than in placebo) reported in the 12-week study were diarrhea (82% vs 20%), vomiting (29% vs 12%), fever (9% vs 4%), seizure (9% vs 6%), anxiety (8% vs 1%), decreased appetite (8% vs 2%), fatigue (8% vs 2%), and nasopharyngitis (5% vs 1%).
  • Drug Interactions: Effect of DAYBUE on other Drugs
    • DAYBUE is a weak CYP3A4 inhibitor; therefore, plasma concentrations of CYP3A4 substrates may be increased if given concomitantly with DAYBUE. Closely monitor when DAYBUE is used in combination with orally administered CYP3A4 sensitive substrates for which a small change in substrate plasma concentration may lead to serious toxicities.
    • Plasma concentrations of OATP1B1 and OATP1B3 substrates may be increased if given concomitantly with DAYBUE. Avoid the concomitant use of DAYBUE with OATP1B1 and OATP1B3 substrates for which a small change in substrate plasma concentration may lead to serious toxicities.
  • Use in Specific Population: Renal Impairment
    • DAYBUE is not recommended for patients with moderate or severe renal impairment.

DAYBUE is available as an oral solution (200 mg/mL).

Please read the accompanying full Prescribing Information, also available at DAYBUE.com

About Fragile X Syndrome

Fragile X syndrome is the most common inherited cause of intellectual disability and the most common known cause of autism. Fragile X syndrome is due to a gene mutation on the X chromosome that impacts the FMRP protein, which is responsible for regulating the synapses of nerve cells. The full mutation causes Fragile X syndrome. It is estimated that between one in 4,000 and one in 7,000 males and between one in 6,000 and one in 11,000 females have the full mutation. Generally, males are more severely affected, with approximately 50% of the females having some features of the syndrome. Clinically, Fragile X syndrome is characterized by intellectual handicap, hyperactivity and attentional problems, autistic symptoms, anxiety, emotional lability and epilepsy.12,13 Currently, there are no medicines approved for the treatment of Fragile X syndrome.

About Acadia Pharmaceuticals

Acadia is advancing breakthroughs in neuroscience to elevate life. For 30 years we have been working at the forefront of healthcare to bring vital solutions to people who need them most. We developed and commercialized the first and only approved therapies for hallucinations and delusions associated with Parkinson’s disease psychosis and for the treatment of Rett syndrome. Our clinical-stage development efforts are focused on treating the negative symptoms of schizophrenia, Prader-Willi syndrome, Alzheimer’s disease psychosis and neuropsychiatric symptoms in central nervous system disorders. For more information, visit us at www.acadia.com and follow us on LinkedIn and Twitter.

Forward-Looking Statements

Statements in this press release that are not strictly historical in nature are forward-looking statements. These statements include but are not limited to statements regarding the timing of future events. These statements are only predictions based on current information and expectations and involve a number of risks and uncertainties. Actual events or results may differ materially from those projected in any of such statements due to various factors, including the risks and uncertainties inherent in drug development, approval and commercialization. For a discussion of these and other factors, please refer to Acadia’s annual report on Form 10-K for the year ended December 31, 2022, as well as Acadia’s subsequent filings with the Securities and Exchange Commission. You are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date hereof. This caution is made under the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. All forward-looking statements are qualified in their entirety by this cautionary statement and Acadia undertakes no obligation to revise or update this press release to reflect events or circumstances after the date hereof, except as required by law.


1Acadia Pharmaceuticals Inc, Data on file. RTT US Prevalence. March 2022.2Fu C, Armstrong D, Marsh E, et al. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatrics Open. 2020; 4: 1-14.3Kyle SM, Vashi N, Justice MJ. Rett syndrome: a neurological disorder with metabolic components. Open Biol. 2018; 8: 170216.4Acadia Pharmaceuticals Inc, Data on file.5Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999; 23(2): 185-188.6Fukuda T, Itoh M, Ichikawa T, et al. Delayed maturation of neuronal architecture and synaptogenesis in cerebral cortex of Mecp2-deficient mice. J Neuropathol Exp Neurol. 2005; 64(6): 537-544.7Asaka Y, Jugloff DG, Zhang L, et al. Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome. Neurobiol Dis. 2006; 21(1): 217-227.8Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010; 68(6): 944-950.9Daniel C, Tarquinio DO, Hou W, et al. The changing face of survival in Rett syndrome and MECP2-related disorders. Pediatr Neurol. 2015; 53(5): 402-411.10Tropea D, Giacometti E, Wilson NR, et al. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci USA. 2009; 106(6): 2029-2034.11Acadia Pharmaceuticals Inc, Data on file. Study Report 2566-026. 2010.12Neuren Pharmaceuticals. Fragile X Syndrome. Retrieved from https://www.neurenpharma.com/products/trofinetide/fragile-x-syndrome. Accessed July 13, 2023.13UpToDate. Fragile X syndrome: Clinical features and diagnosis in children and adolescents. Retrieved from https://www.uptodate.com/contents/fragile-x-syndrome-clinical-features-and-diagnosis-in-children-and-adolescents#H3365848815. Accessed July 13, 2023.


Media Contact:Acadia Pharmaceuticals Inc.Deb Kazenelson(818) 395-3043media@acadia-pharm.com

Investor Contact:Acadia Pharmaceuticals Inc.Jessica Tieszen(858) 261-2950ir@acadia-pharm.com



Source: Acadia Pharmaceuticals Inc.

Run4Rett – Save the Date

Mark your Calendars for our Annual

SUNDAY 24th, 2023

New Location

Richvale Community Centre, 160 Avenue Road, Richmond Hill, Ontario, L4C 5L8

Stay connected with Ontario Rett syndrome Association for more details.

Feel free to sign-up for our Newsletter to be informed by email.


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2023 IRSF Scientific Meeting Review

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 




  • 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 

Now Accepting Applications for Board of Director Positions

Call for Nominations: Volunteer Board Members 

The Ontario Rett Syndrome Association (O.R.S.A.) is pleased to announce an open call for nominations for volunteer board members within Canada. We are seeking dedicated individuals with a passion for making a difference in the lives of individuals and families affected by Rett syndrome. Join us in our mission to provide support, advocacy, and resources to the Rett syndrome community across Ontario and Canada. 

O.R.S.A. is a non-profit organization committed to improving the lives of individuals affected by Rett syndrome. We work tirelessly to raise awareness about the disorder, provide educational resources to families and professionals, advocate for research funding, and foster a supportive community for individuals with Rett syndrome and their families.

Role Description: As a volunteer board member, you will play a crucial role in shaping the direction of O.R.S.A. and driving our initiatives forward. We are specifically seeking individuals with expertise in the following areas:

  1. Communications: Help enhance O.R.S.A.’s public image, develop communication strategies, and manage media relations.
  2. Social Media: Create engaging social media content, manage platforms, and foster online community engagement.
  3. Research: Contribute to our efforts in promoting and funding Rett syndrome research initiatives.
  4. Education: Assist in developing educational materials, organizing workshops/conferences, and providing resources to families and professionals.
  5. Fundraising: Help plan and execute fundraising events, identify potential sponsors, and secure donations for O.R.S.A. programs and services.
  6. Treasurer oversees the financial operations of the Ontario Rett Syndrome Association (ORSA), ensuring accuracy, transparency, and compliance with financial regulations. Responsibilities include managing transactions, preparing financial reports, and providing guidance on budgeting and fundraising.
  7. Secretary maintains official records and facilitates efficient board meetings for the Ontario Rett Syndrome Association (ORSA). Responsibilities include preparing agendas, taking minutes, managing correspondence, and ensuring legal compliance.
  8. Outreach: Connect with families, increase membership, help navigate the system.


  • A passion for supporting individuals and families affected by Rett syndrome.
  • Strong communication and interpersonal skills.
  • Expertise in the desired area of focus (as mentioned above).
  • Willingness to commit to the responsibilities and time requirements of a board member.
  • Ability to work collaboratively within a diverse team.
  • Availability to connect remotely at least once a month virtually for board meetings. 

How to Nominate: To nominate yourself or someone else for a board position, please submit the following documents to smillson@rett.ca 

  1. A cover letter outlining your interest in serving on the board and highlighting relevant experience.
  2. A current resume or curriculum vitae (CV) detailing your qualifications and accomplishments.

Selection Process: Once the nomination period has closed, the O.R.S.A. board will review all submissions and select candidates for interviews. Final board members will be chosen based on their qualifications, commitment, and alignment with O.R.S.A.’s mission and values.

Join us in making a difference in the lives of individuals and families affected by Rett syndrome. By serving on the O.R.S.A. board, you will have the opportunity to contribute your skills and expertise to meaningful initiatives, and help shape the future of our organization.

We look forward to receiving your nominations and welcoming passionate individuals to join our dedicated team.


Sabrina Millson


AGM – Save the Date

Please mark off your calendars for our Virtual Annual General Meeting

on Wednesday, August 23rd, 2023 at 7:30pm.

More details to will be shared on website soon.


Feel free to sign-up for our Newsletter to be informed by email.


Subscribe to our Newsletter

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