Taysha Gene Therapies has announced that Health Canada has sent a “No Objections Letter” for the Phase 1/2 clinical trial of TSHA-102, their investigational gene therapy for adult females with Rett syndrome. This clears the way for commencement of a clinical trial in Canada.
Sainte-Justine Mother and Child University Hospital Center in Montreal, Quebec has been selected as the initial clinical site under the direction of Dr. Elsa Rossignol, principal investigator.
O.R.S.A. will continue to provide updates as progress is made towards enrolling the first patient in this trial.
We are pleased to share that upon review of the Clinical Trial Application (CTA) for the Phase 1/2 clinical trial of TSHA102, our investigational gene therapy for adult females with Rett syndrome, Taysha has received notification of a “No Objections Letter” from Health Canada. This means that Taysha is cleared to proceed with the clinical trial.
As you are aware, in most patients with Rett, there is a mutation in the MECP2 gene that tells cells how to make a protein called Methyl-CpG-binding protein 2 (MeCP2). This protein plays an important part in the development of the brain throughout childhood, in maintaining normal brain function and communicating between nerve cells. In Rett patients with a MECP2 gene mutation, the body does not make enough or properly make MeCP2.
TSHA-102 is designed to deliver a functional MECP2 gene to the brain in patients with Rett syndrome using a novel technology platform, called miRARE, developed by Drs. Sarah Sinnet and Steven Gray of UT Southwestern Medical Center. TSHA-102 will be tested in a Phase 1/ 2 trial to determine whether the functional MECP2 gene can be packaged with our technology to replace MeCP2 and safely control the level of MeCP2 protein expression.
Approval of the TSHA-102 clinical trial plans by Health Canada is an important milestone, and we are encouraged by the progress made towards initiating a clinical trial.
“Today’s CTA clearance is a pivotal moment for the Rett community, and it would not have been possible without the tireless work of my Taysha Colleagues, our partners at UTSW, the Rett Clinical and Scientific experts with whom we collaborate, and most importantly the Rett syndrome community. Initiation of a clinical trial is a formative moment, and we are motivated by the patients and families whom we serve and the potential of TSHA-102. Thank you to the patient advocacy leaders for your partnership and the patients and caregivers for your continued support.”
Suyash Prasad, MBBS, M.Sc., MRCP, MRCPCH, FFPM, Pediatrician, Chief Medical Officer and Head of Research & Development at Taysha Gene Therapies
We are grateful for the continued support of the Rett syndrome community and our Rett advocacy partners. We understand that you may have many questions about the trial and plans for future studies. We look forward to providing further updates about the TSHA-102 clinical trial to the global patient organizations as new information becomes available.
Registration: Beginning at 10:30 a.m. Tee-Off: 12:00 p.m. Dinner: To be served following shotgun tournament Format: 4 Player Scramble Location: The Greens at Renton 969 Concession 14 Simcoe, ON N3Y 4K3 www.greensatrenton.com
In collaboration with the other Canadian Rett syndrome organizations, we are presenting a series of free webinars on the topic of communication and AAC.
PODD: How to apply to everyday life and literacy
Jenn Markosky and Julia Drabble
February 13th 2022 (Video available below)
Are you interested in learning about PODD? Do you already know a bit about it but aren’t sure how to use it effectively to create communication and literacy opportunities for your child? Join us as we talk about PODD and learn how it might be useful for your child. Much of the information will also be transferable to other types of vocabulary systems and communication devices.
Jenn Markosky attended Minot State University and has been a speech language pathologist for over 20 years. She has worked for non profit organizations as well as healthcare and recently moved into full time private practice. She specializes in promoting communication for children and adults with complex communication needs. She enjoys coaching and supporting families and teams who use AAC.
Julia Drabble has been a speech-language pathologist for over 20 years. She holds Bachelor and Master degrees in Speech-Language Pathology from Minot State University and has worked in health, education, and the private sector. For the past 18 years, Julia has been employed as a school SLP, working with children from preschool through adulthood. Julia is particularly interested in the area of augmentative and alternative communication (AAC) and believes every person should have an opportunity to find their voice.
The Demanding Device: The lived experience of aided communicators
February 18th 2022 (Audio available below)
This presentation will explore the many demands that Speech Generating Devices make of the people with speech impairment that seek to use them to share their voices audibly in the world. The overarching question explored is what does the device demand? What are the cognitive, technological, and physical demands that must be met by the user to express themselves through audible voice? How are these demands experienced in the day to day lives of people who use SGDs? Also brought to light are other demands, demands that are perhaps more subtle and more societal but demands that nonetheless will be shown to shape if, when, and how devices are used. Exploration of Ableism and it’s role in the Demands of the Device will be explored.
Dr Kathy Howery received her PhD in Special Education from the University of Alberta in 2017. She is currently an educational consultant and a sessional lecturer at several Universities in Alberta. Her doctoral research drew upon hermeneutic phenomenology to seek to understand what is it like for young people with complex communication needs (CCN) to speak with speech generating devices.
Kathy has presented at scores of educational conferences at both the national and international level including the International Society for Augmentative and Alternative Communication (ISAAC) Conference, the Assistive Technology Industry Association (ATIA) Conference, and the Council for Exceptional Children (CEC) Conference. Kathy has also presented her research in the area of CCN, and in the area of Universal Design for Learning (UDL), at numerous conferences in Alberta, British Columbia, and Quebec.
Shared Reading and AAC – Supporting Language AND Literacy
February 24th 2022 (Video available below)
Shared reading is one component of comprehensive emergent literacy instruction. The focus is on reading with learners, not to them. This workshop will suggest ways to fully include students with physical impairments and students who use AAC (with primary focus on individuals with Rett Syndrome). The session will cover classroom, small group, and 1:1 instruction. Targets include interactive, engaging supports for goals such as vocabulary growth, text-to-self connections, and attending to print.
Dr. Caroline Musselwhite is an assistive technology specialist with more than 45 years of experience working with children and adolescents with significant disabilities in a variety of settings, including Head Start, clinics, developmental day programs, homes, and the public schools. Dr. Musselwhite has written a number of textbooks and “how-to” books on a range of topics, and has authored many books and software programs for youth with disabilities. She has taught courses at several universities and presented thousands of workshops throughout North and South America, Australia, Europe, and Africa. She has also supported Communication Circles and Balanced Literacy Clubs in multiple cities in the US and Canada. Honors include: Foundation Fellowship (West Virginia University), Educator of the Year
(Association for Retarded Citizens, North Carolina), Honors of the Association, (North Carolina Augmentative Communication Association), DiCarlo Outstanding Clinician Award (North Carolina Speech-Language-Hearing Association), and ISAAC Fellow.
Supporting Communication and Independence with Grid
Chris Gibbons and Melanie Gylling
February 25th 2022 (Video available below)
As an AAC platform, Grid software offers every chance to participate, learn, and express yourself. Join us to learn about our symbol-based communication pathways, core word strategies, and adapted keyboards. We’ll demonstrate basic editing and how every grid set is accessible from touch to eye gaze. You’ll also see how we honor every form of communication by providing access to social media, email, text, phone, web browsing, and our unique Symojis for spontaneous expression.
Chris Gibbons has worked in a variety of AAC clinical, research, and industry settings as a private practitioner, assistive technology specialist, and policy level consultant. For more than 20 years he has focused solely on advocating for and contributing to SGD user success through increased access efficiencies and by working to improve funding for SGDs. Chris is the Head of Smartbox, Inc.
Melanie Gylling (she/her) is an ASHA certified Speech-Language Pathologist with extensive experience working in a variety of settings including outpatient rehabilitation, schools, and long-term care facilities. She is passionate about AAC and providing education and support to SGD users and their support teams. Melanie is employed full-time for Smartbox Inc., the developers of Grid 3 software and speech generating device svery form of communication by providing access to social media, email, text, phone, web browsing, and our unique Symojis for spontaneous expression.
AAC: Where do I start?
Jennifer Wiegert and Corinna Duffitt
February 27th 2022 (Video available below)
If you have just received a diagnosis of Rett Syndrome for your child, or if you have taken your first steps in acquiring an AAC device and need guidance, this webinar is for you! Join us as we discuss how to best introduce and implement AAC – from low-tech to high tech – on a day to day basis!
Corinna completed her graduate studies at the University of British Columbia in Vancouver, B.C., and has been a speech language pathologist for 24 years. She has worked in health unit, public and private school settings, and has recently moved into full time private practice, Chickadee AAC, with Jennifer Wiegert as her partner. She specializes in AAC and works almost exclusively with children and young adults with complex communication needs.
Jennifer competed her graduate studies in speech-language pathology at Western Washington University in Bellingham, Washington. Over the past 25 years she has provided therapy services to children and families in public and private schools (preschool through high school), a private clinic setting, and most recently on the augmentative and alternative communication (AAC) team in the Surrey School District. Corinna and Jennifer’s passion for providing home-based services for families and their loved ones with complex communication needs, resulted in their joint private practice Chickadee AAC Communication services.
AAC in School: Tips for Parent Advocacy
March 7th 2022 (Video available below)
Are you tired of explaining Rett syndrome and AAC to each new teacher and each new support worker? Do you have a child starting school soon? Are you worried about a transition to a new school? Join us for tips and tricks for effectively communicating with school staff to help them to understand what works best for your child.
Karen Congram has years of experience as a parent of someone with Rett syndrome, advocating for best practices in schools. She is also an Ontario teacher and the Head of Special Education at Stratford District Secondary School. Previously, she was a Learning for All Coach for the Avon Maitland District School Board, providing professional development on inclusive education and universal design for learning. This year, Karen will complete her Graduate Certificate in Teaching Students with Complex Communication Needs at the University of Alberta.
Advanced Access with Eye Gaze
Charles Popperman (Tobii Dynavox)
March 11th (Video available below)
Listen and explore with the pioneers of modern eye tracking! In this session we will cover topics such as desktop accessibility, accessible applications, environmental controls, available supports, and more! Come learn about eye tracking for communication and beyond – as a tool for life.
Charles Poeppelman works as a Solutions Consultant for the Canadian Division within Tobii Dynavox North America. In this role, he covers a wide range of AAC-related interests for Tobii Dynavox from coast to coast across Canada and the United States. This includes presenting at public and private trainings, supporting AAC users and their teams, and working directly with provincial and federal funding sources and our clinical partners in Canada. By background, Charles is a certified speech-language pathologist with clinical experience working in AAC across the lifespan.
The Evolution of Inclusion
March 15 (Video available below)
In this session we will look at how the goals of inclusion have continued to shift and evolve, as we learn more about diversity and identity.
Originally from Edmonton, and now based in Vancouver, British Columbia, Shelley Moore is a highly sought-after teacher, researcher, speaker and storyteller and has worked with school districts and community organizations around the world, in supporting and promoting equity for all learners. Her first book entitled, “One Without the Other” was released in July 2016 to follow up her TEDx talk. Shelley completed an undergraduate degree in Special Education at the University of Alberta, her masters at Simon Fraser University, and is currently a PhD candidate at the University of British Columbia.
I hope you are all doing well, staying positive and testing negative as we journey through this winter season.
Events of this year have continued to place pressure on all of us to lead a balance life during uncertain times. I am truly inspired by the unwavering resilience of our community to push forward despite the many challenges that we face.
Your energy radiates and motivates everyone at the Ontario Rett Syndrome Association (O.R.S.A.) to continue to serve our community with dedication and pride. We are here to help you: providing support, valuable information, and resources.
As we look forward with optimism for better tomorrows, we would like to express our sincere appreciation for your continued trust in us.
Since my move into the President’s role last August, I am increasingly comfortable and confident with our goals.
O.R.S.A.’s past president, Kevin Morton, spent the last year working with me to make sure we could provide a seamless transition of leadership of our organization. Kevin continues as a mentor and friend, and for this support I am truly grateful.
Likewise, I would like to take this opportunity to thank our Board of Directors, (Bryan, Sherry, Joan, Keri-Ann, Steve, Jodi, Cindy, Melanie, and Nikki) for all their hard work and commitment. I am fortunate to be working alongside a wonderful team who volunteer their time to ensure the continuation of O.R.S.A.’s legacy through 30 successful years.
The efforts and accomplishments achieved by our working board are proudly demonstrated below. I encourage everyone to take a moment to review the highlights and see how we have collectively made progress toward our strategic priorities.
Wishing you and your families much love, joy and peace this holiday season.
All the best in 2022!
O.R.S.A. Turns 30
This milestone was celebrated by surprising 30 long time O.R.S.A. supporters with our new Hope Box. We appreciate your contributions to help make O.R.S.A. a place where families feel supported. To find more interesting facts about the last 30 years click here:
New Board Members
A warm welcome to our newest Board members: Cindy Belland-Steele, Melanie Birch, and Nikki Arapov. We look forward to working with you.
The Hope Fund at Work
Congratulations to our 2000-2021 Hope Fund recipients, Dr. Rastegar and Dr. Weber. We wish you much success with your research.
We are now accepting research grant applications for 2022-2023 until February 15, 2022. This funding opportunity will be offered in the amount of $100,000 (two grants of $50,000 or one grant of $100,000) per year for a period of one year. These funds have been made possible by the generous support of our members, families and friends. Over $600,000 dollars have been awarded to Canadian Researchers who want to advance science for Rett syndrome. If you would like to contribute to The Hope Fund and see your dollars at work, visit our website. Donations over $20.00 dollars will receive a tax receipt.
Canadian Rett Syndrome Registry
This year the Canadian Rett Syndrome Registry provided valuable data in helping with clinical trial research. If you are interested in contributing to science we encourage you to register your loved one’s information into the Canadian Rett Syndrome Registry.
In collaboration with the, NHCC, a National Brain Strategy was created and presented to Parliament addressing equality and government assistance.
Tashya Gene Therapies
The Canadian Rett Syndrome registry helped Tashya Gene Therapies develop a caregiver survey regarding symptoms management. Canadian families were then offered an opportunity to participate in this survey by providing their loved one’s information. This information will help shape the goals of their upcoming gene therapy protocol.
Anavex Life Sciences
O.R.S.A. was asked to help facilitate and recruit patients into Canada’s first clinical trial for Rett syndrome. All 3 Canadian sites should be up and running by next year.
This exciting new partnership will open many doors to help us with clinical trial support and management.
Acadian Pharmaceuticals recently announced positive top line results in their Phase 3 clinical trial of Trofinitide for treating symptoms of Rett syndrome.
Gaining access to novel therapies in Canada is a priority to us. Stay tuned for more information.
Your Voice Matters
Thank you to everyone who participated in our 2021 Rett clinic satisfaction survey. It was reassuring to see that overall families are happy with the service provided by the clinics. We appreciate your feedback as we look for ways to improve the family/patient experience.
O.R.S.A. took the initiative to have podcasts created in 2021. Dr. Kerry Delaney, Dr. Alexander Weber, Dr. Mojgan Rastegar, Dr. Juan Ausio, Dr. John Vincent, Dr. James Eubanks and Past O.R.S.A. Presidents.
Each one represents a unique connection to the O.R.S.A. community. The importance of O.R.S.A. and the special individuals they support is prevalent in each podcast.
All the podcasts are archived on the O.R.S.A. website and can be found on Apple Podcasts, Google Podcasts and Spotify.
The 2021 RUN4RETT took place during the entire month of October. Teaming up with the awareness month for Rett syndrome. Once again this year the signature event was held virtually. Families and friends could participate in their own backyard. Connected together with the unbreakable spirit of all our loved ones with Rett syndrome.
The Running Room website was once again selected to register and make donations for the event. O.R.S.A. cannot thank all of the participants and those that donated enough. Thank you for believing we make a difference with every participant, registration and donation made.
Thank you to the Swartz and Dodds families. Your support and generous donations of silent auction items every year has been unwavering. Almost since the very beginning of the signature event, O.R.S.A. has been able to count on you. Together you are making a difference to those affected with Rett syndrome and their families. This year we had a little extra help from the Swartz extended family. Tyler Polon, a high school student volunteered to assist O.R.S.A. with photos of the auction items. A win- win situation, thank you Tyler.
The success of the 2021 virtual event and auction speaks volumes of the support from the families and friends of O.R.S.A.
The total combined money raised was just over $30,000!!!
Thank you to all those that participated, registered, donated and bid.
Together we are making a difference and made the 2021 RUN4RETT a success!
Uncorked Rett 2021
For our second year in a row – Ontario Rett Syndrome Association has teamed up with Fielding Estate Winery with a hand selected packages great for the holidays. When you purchase any of the wine packages available, 25% will be donated back to Ontario Rett Syndrome Association. Delivery will be included throughout Ontario, but for other Provinces and Territories, accommodations can be made through Fielding Estate Winery.
The Rett Classic was once again cancelled due to COVID-19. We hope to be up and running again in 2022. Stay tuned for more details!
3rd Party Fundraisers
Thank you to everyone who organized their own fundraisers this year!
In 2021 the event raised $7099.30 for O.R.S.A.
This bootcamp fundraiser in Thunder Bay raised an amazing $21,925 for The Hope Fund.
This event was cancelled this year due to COVID-19 but still raised $1,818. Thank you for your support over the years!
Host Your Own Fundraiser
Did you know that you could host your own 3rd party fundraiser in support of O.R.S.A.? We currently have several that run annually, scheduled at different times throughout the year! All you have to do is present your fundraiser to O.R.S.A., and we will let you know if it fits within our criteria. If it does, then we will assist you with guidance and providing you with pamphlets and brochures to hand out on the day of your event. Any fundraising done in support of O.R.S.A. can be directed to our general operating fund which support the clinics and other initiatives or to The Hope Fund for research grants.
Thanks to everyone who took the time to contact us over the past year. It’s always a pleasure getting to know new people and keeping in touch.
Some of the clinics have started in person appointments, however due to COVID, you can still connect by phone and virtual appointments. Visit Rett.ca – Clinics for more information.
We were happy to participate in the New Hope box, delivered to new members upon request. The package has amazing information as well as some goodies for everyone.
Another way to keep in touch is by becoming a free lifetime member. Some of the benefits of a membership include:
Automatic subscription to our emails
preferred rates for conferences and workshops
receiving up to date information on research and treatments for Rett syndrome
new members that are caregivers receive a package that contains valuable resources
support at the local level including clinics, workshops, and fundraisers
networking with families and researchers with a wealth of information
A strong membership allows O.R.S.A. to continue to be a strong advocate and voice for all individuals, families, and friends affected by Rett Syndrome.
I look forward to the day we can meet face to face again, hopefully in 2022.
Keri Ann Richard, O.R.S.A. Family Outreach Coordinator
Rett Syndrome Awareness Month
This past October during RETT Syndrome Awareness Month, not only did small and large communities come together during the pandemic, but Canada came together. Over the past 4 years O.R.S.A. has been working hard on member’s behalf to have their communities recognize and proclaim October as RETT Syndrome Awareness Month.
In addition to having proclamations issued as part of our awareness campaign, we continue to work hard to light Canada and the world purple on October 29th for Rett Syndrome. When we first started our purple light campaign several years ago, we only had a few major locations lit purple. Even with the pandemic, this year Canadian Rett organizations joined together to try to #LightCanadaPurple. We would like to thank British Columbia, Alberta, Saskatchewan, and Manitoba’s Rett Syndrome Societies for joining us in this year’s campaign. In Ontario, we had over 15 communities light up one or more locations purple on October 29th to show their support. We would like to thank all that participated and shared their photos with us.
Please consider making a donation to O.R.S.A. so that we may continue our mission in 2022 and beyond.
All donations over $20 received before midnight on December 31, 2021 will be issued a tax receipt for 2021.