Lifeline | Spring 2019

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Contents Letter from Executive Director Research Clinical Trial Announcements GM1 Type II | GM2 Late Onset What does this news mean for families? Family Support 2019 Annual Family Conference Pictures | Speakers | Presentations In Numbers New Way to Connect Sibling Scholarship Opportunity Highlighted Funds Benton’s Family Assistance Fund Emma’s Fund for Families Welcome New Births Remembrance

Letter from Sue I received a note from a parent this last week in response to the latest GM1 Clinical Trial news - “We are ecstatic with this news for which we have been waiting personally since 1959 when our first child was diagnosed with Niemann-Pick Disease at 2 months of age. I only wish the parents who started NTSAD and set into motion the research initiatives, and all those who have given their life’s work to this end, were here to share in the emotion of these moments. They made the tragedy of their children’s lives have meaning that someday there would be treatments to save other children and adults otherwise similarly stricken… Hope is a powerful force when put into action.” We haven’t been down this road before, but others have, and we can certainly learn from them as well as chart our own unique way in making sure everyone within the NTSAD community feels heard, cared for, and remembered. There will be other clinical trials – hopefully soon – and new needs for education and emotional support. Thanks to so many of you who participated in our strategic planning process - by survey and/or interviews. We will share what we learned and our plans in the fall. No matter what, we know that NTSAD’s core focus is around providing family support, whether it’s individual support or serving as a platform for families to support each other. The same goes for our research strategy which has gone through a similar process - especially important as things advance. Just in the last month, I have been fortunate to speak on a number of panels which allowed me to engage in discussions about how emerging therapies for rare diseases – especially gene therapies – are being looked at. Across disease groups and organizations, there are clearly many themes in common: 1. FDA wants to hear the patient voice, although it should be unified and not fragmented 2. FDA requires rigorously collected data to approve new therapies; therefore reinforcing the importance of well thought out registries and natural histories 3. Many groups and people are looking to the future and figuring out, once a therapy is approved, how to ensure sustainable patient access to innovative (expensive) therapies coming down the road Families can drive change in so many important ways, especially as you’ve seen in advancing research and also in public policies. Your voice – no matter where you are in your journey - is essential and valued. And we are here to listen.

In the News... Axovant issued a press release on March 11, 2019 with an update on a patient that was treated last fall with the AXO-AAV-GM2 gene therapy. In summary, the news is encouraging. The treatment was well-tolerated by the 30 month old patient. The patient is stable with no sign of deterioration. HexA enzyme activity increased enough for a clinically important effect. It is the first time a gene therapy has been administered to a child with Tay-Sachs disease, and Axovant is encouraged by these early clinical results, which will help inform the design of our future clinical study for AXO-AAV-GM2.

Now Enrolling... We can finally announce that for the first time in NTSAD’s history a clinical trial for one of the diseases we support has opened. The Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type II GM1 Gangliosidosis has opened for enrollment. Axovant Gene Therapies, who licensed the program, released the news that a first patient was treated with this therapy. Further details about the enrollment and criteria can be found by searching GM1 at

NTSAD Research Se

What does the news mean for our community??

The news of the launch of the GM1 Type II clinical trial is good news gleaned from this trial will inform the steps taken in other trials along the diseases. We do recognize the frustration and disappointment th every family will be accepted into the first phases of these trials. NTS and support every family. Our first message is that the children and f are the shoulders on which these trials of today rest upon. We would

We know this new world is daunting, confusing and exciting - to unde structured and what's involved visit the NTSAD website.

2019 NTSAD 41st Annual Family Conference April 11-14, 2019 | Raleigh, North Carolina It was a weekend filled to the rim with support, togetherness, tears, laughter, and hope. From the sessions on the latest research, to those offered on support, education, and advocacy, our families came together to learn, share, and spend their time with others who are walking a similar path. Whether in sessions, during meals, enjoying the Family Lounge, or just out by the fire, the sense of community is always an amazing sight. Highlights of the 2019 NTSAD Annual Family Conference include: • • • • • • • •

Over 300 people attended Almost 100 families were able to join us We offered 33 conference sessions 55 families were allocated a Helping Hand Grant to enable their attendance Free photo shoots for 50 families, courtesy of Soulumination Camp Snuggle and Camp Active were again one-of-a-kind experiences for our affected children The Quiet Reflection and Commemoration Ceremonies honored our loved ones in very personal and meaningful ways The healthy sibling Youth Group ventured out to Adventure Landing and the North Carolina Museum of Science and Natural History

Research Update Session & Breakout Summaries Each room was filled to capacity for the research session and the breakouts for GM1, GM2, Canavan and Late Onset GM2. The opening presentation by Marc Patterson, MD, and Florian Eichler, MD was filmed and can be found on NTSAD’s website.

Canavan Dominic Gessler, MD UMass Medical School Recombinant adeno-associated virus (rAAV) and Canavan disease Dr. Gessler shared an overview of the unpublished research that he and Dr. Gao's team are developing using rAAV based gene therapy for Canavan disease that can be delivered as a single IV injection that can travel to the brain. Mouse models indicate complete normalization of motor and cognitive function with lowered NAA levels. It is clear, based on their work thus far, that it will be crucial to treat Canavan in the brain and the peripheral organs based on new markers they've found. Kathleen Kirby, Clinical Development Operations Aspa Therapeutics Canavan Natural History Study A number of people from Aspa Therapeutics attended the Conference to meet with families and understand the family experience first-hand. Kathleen spoke with attendees in the Canavan breakout about the upcoming launch of Aspa's Natural History Study and their collaboration with Dr. Heather Lau, Dr. Florian Eichler and Dr. Annette Bley. The updated trial will launch at Massachusetts General Hospital in Boston, New York University Medical Center, and in Hamburg, Germany early this summer. Their goal is to make this study as easy as possible for families by coordinating medical record retrieval, offering travel support to one of the three sites, and providing home assessments by trained professionals. Heather Lau, MD, MS NYU Medical Center The Importance of a Natural History Study of Canavan Disease Dr. Lau reviewed the presentation of Canavan disease and the symptoms on the spectrum from mild to severe, as well as how Canavan is diagnosed. This information was a foundation for her talk about the Canavan Natural History Study, why it is important, and how it will inform future clinical trials.

continued after pictures

GM1 Gangliosidosis Cassie Bebout, NTSAD Sibling, Auburn University Intravenous Gene Therapy for GM1 Gangliosidosis Cassie presented an explanation and update about her involvement in Dr. Doug Martin's lab exploring intravenous gene therapy as a safe and effective approach to treating GM1 gangliosidosis. They saw increased beta galactosidase activity and decreased ganglioside storage levels throughout the central nervous systems of treated felines. They reported that the lifespans were significantly extended compared to untreated felines. (42 months versus 8 months, respectively) MRI and other biomarkers also indicated the "amelioration of disease progression." This encouraging data supports the promise of IV gene therapy as a "viable approach to treating GM1 gangliosidosis." Jill Quigley, Chief Operating Officer Passage Bio Developing Breakthrough Genetic Medicines for Rare CNS Diseases Jill introduced attendees to Passage Bio, its program for GM1 gene therapy and the technological approach they plan to use in in their future clinical trial. They are looking to deliver the optimal AAV in the cerebellum (ICM) due to the positive results they've seen in pre-clinical work. The delivery will diffuse the healthy AAV into the brain with evidence of low toxicity. She reviewed the process and approximate timeline of the development of the GM1 gene therapy program. As we've seen with other companies developing gene therapy programs for other diseases, there are benefits to having the infrastructure of a company in place to launch a clinical trial. Passage Bio is working with the UPenn Orphan Disease Center in a number of ways. The Orphan Disease Center (ODC) will soon launch a natural history study to understand the progression of GM1 gangliosidosis in its infantile and juvenile forms. The data collected will help researchers to better understand the disease and can also serve as a comparison for future clinical trials. Enrollment will begin in mid-2019 in the United States. Enrollment sites will be at centers in the U.S., Brazil and Europe. Samantha Parker, Chief Patient Access Officer Lysosgene Sam reviewed Lysogene's portfolio of gene therapy programs for Sanfilippo A, Fragile X and GM1 Gangliosidosis. They are looking at an intrathecal (cisternal) delivery of the AAV vector with the normal form of the GLB1 gene. Lysogene has received Orphan Drug Designations from both the U.S. and European regulatory agencies, the FDA and EMA, respectively. The anticipated study design where they will observe speech and motor skills along with natural history data, both published and ongoing. They anticipate having 18 GM1 patients enrolled with the trial opening in 2020 with 24 months of follow-up in the U.S. and Europe.

GM2 Tay-Sachs and Sandhoff (Infantile & Juvenile) Miguel Sena-Esteves, PhD UMass Medical School Next generation of AAV gene therapy for Tay-Sachs and Sandhoff diseases Dr. Sena-Esteves gave the definition of an AAV, the development of it over the years, and the principle behind gene therapy for lysosomal storage diseases. He shared the description of gene therapy delivery methods to the central nervous system (CNS) and the exciting results of their studies delivering the AAV vector into the cerebral spinal fluid (CSF). Axovant Gene Therapies Presentation Several representatives from Axovant Gene Therapies attended the conference to meet families, learn more about our community and to share information about the progress they've made in their developing gene therapy program for GM2. Paul Korner, MD, and Gavin Corcoran, MD spoke about their mission, the key considerations for the GM2 program, details and what it means for GM2 families based on the April 2019 status of the program.

GM2 Late Onset Tay-Sachs and Sandhoff Heather Gray-Edwards, PhD UMass Medical School AAV Gene Therapy for Late Onset Tay-Sachs and Sandhoff Dr. Gray-Edwards shared data that she and her team collected working with feline animal models and Jacob Sheep on symptoms such as ataxia, tremors, and even difficulty getting up. She discussed the therapeutic challenges associated with Tay-Sachs and Sandhoff and the second generation of AAV-gene therapy. Christopher Stephen, MD, MRCP Massachusetts General Hospital Late onset GM2 Gangliosidosis - The Eyes Have It Dr. Stephen shared the work he has done studying the correlation between eye movement and the progression of Late Onset. The data demonstrates that the measurement of eye movement could be used as a subtle marker to track progression and in a clinical trial. He also noted there were memory and thinking difficulties that manifested as common symptoms of Late Onset GM2. The plan is to continue to follow patients over time using the portable equipment to measure eye moments and track changes over time.

Family Support An Extension of the Conference: Monthly Zoom Video Chats

NEW Feature!

We are excited to announce the launch of regularly scheduled monthly Zoom chats as way to connect, talk, and share. Think of them as mini peer groups like at the conference. There will be always be a host for each call to help with introductions and answer any questions.

• Be sure you use the camera on your computer, laptop or phone when you join the chat.

There will also be quarterly Zoom chats that will cover specific topics hosted by an expert in that area. Stay tuned for future updates on when those will be. If there is a topic you’d like to see scheduled, please email Diana at

• Make sure you mute your microphone when you’re not talking so everyone can hear each other speak.

• You can use Zoom on your phone by downloading the app. • Make sure you join the chat a little earlier to make sure everything works.

• These chats are a safe, non-judgmental space for parents to talk.

First scheduled monthly chats: Tuesday, June 4, 2019 at 10am (EST) Parents (Morning Chat) Register in advance for this meeting: Tuesday, June 25, 2019 at 8pm (EST) Parents (Evening Chat) Register in advance for this meeting: Tuesday, June 18, 2019 at 8pm (EST) Late Onset Adults Register in advance for this meeting:

New Families Since January 2019

Frantz and Nathalie Baptiste Boston, MA Annelie, 7 years old Wrantzly, 5 years old (Tay-Sachs) Nayelie, 6 months old (Tay-Sachs) Zuly Barbosa and Farlin Morel Monroe Twp, NJ Liam, 1 year old (GM1) Isabel Barros de Castro Waldman Porto Allegre, Brazil Paulina, 1 1/2 years old (Tay-Sachs) Misty Davis Buffalo, NY Prince Jahadi, 2 years old (Sandhoff) Luis Fernandez and Alejandra Saipert Argentina Guiliana, 13 years old (Juvenile Tay-Sachs) Facundo, 8 years old (Juvenile Tay-Sachs) Niclas Flysjo and Jessica Lindqvist Sweden Hampus, 4 years old (Juvenile GM1) Julia, 2 years old (Juvenile GM1) Isabella, 2 years old (Juvenile GM1) Kristen Frederic and Dan Redfield Anchorage, AK Ava Rose, 2 years old (Tay-Sachs)

Milagros and Oscar Gregorini Mar del Plata, Argentina Victoria, 1 1/2 years old (Tay-Sachs) Amanda and Cecil Lake Archdale, NC Josiah, 1 1/2 years old (Canavan) Shoshana Mirel and Jeff Miller Seattle, WA Noah, 2 years old (Tay-Sachs) Jalisa Neal Fort Riley, KS Miya, 2 years old (Canavan) Bruce Neitzel Michigan Late Onset Sandhoff YunYun Shuai Shanghai, China Sheghe, 1 1/2 years old (Sandhoff) Michael Smith Auckland, New Zealand Late Onset Sandhoff Andrea and Greg Sweet Los Angeles, CA James, 1 year old (Tay-Sachs) William, 5 years old

Remembering Please take a moment, read their names aloud and hug those you hold dear in their honor. Kaiden Sturgeon Harper January 6, 2019

Kolt Terrill March 24, 2019

Fernando Arcanjo January 7, 2019

James Miller April 3, 2019

Jacob Schwartz January 28, 2019

Jaxon Szoke April 17, 2019

Brayden Gloege February 2, 2019

Ambrose Toporowski April 27, 2019

Bodhi Hurle February 27, 2019

Elliot Tullis May 13, 2019


The Kicherer Family welcomed Lilliana’s and her sisters’ new sister, Emmalyn on September 10, 2018.

The Zollar Family welcomed Nikko’s and Zai’s little sister, Novalee on March 22, 2019.

The McDonald Family welcomed Cora’s and Tessa’s little brother, Callum on December 8, 2018.

The Marquez Family welcomed Gavin’s and Audrey’s little sister Soleia on April 17, 2019.

Ashley Cornett and her fiance Doug Bayer welcomed Jase’s little brother, Tripp, on December 26, 2018.

Since January 2019

What to look for in the coming weeks... NTSAD’s Annual Report for 2018 has been mailed and ready to look at online. We’re so proud of our rare community, what we’ve acomplished and what we plan to do in the next year. Visit NTSAD’s home page to download the PDF version of the report.

The Ninth Annual NTSAD Day of Hope will be kicking off soon! The official day is September 21, 2019 but events are held throughout the summer and into fall. If you’re interested in hosting an event, selling t-shirts, or even rallying your friends on social media, contact Patrick Woods, NTSAD Director of Development at or Becky Benson at

Questions? Feel free to contact the office!

Caring for Families Coping with GM1, GM2 Tay-Sachs and Sandhoff, and Canavan

Sue Kahn, Executive Director ( Becky Benson, Conference Coordinator ( Tsitsi Moyo, Development Associate ( Diana Pangonis, Director of Family Services ( Patrick Woods, Director of Development (