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Research Simplified for families

The Latest Research in Lafora Disease – Summarized for Easy Reading

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Research Simplified for Families

Interested in learning about the new research developments in Lafora disease in a concise and easy-to-read form?

Keep reading for summaries of some of the latest published research in Lafora disease. Our goal is to make the research easier to read and understand for families. You’ll find the research simplified in one-page PDFs, but we will also link to the full peer-reviewed publications.

1. Early Treatment With Metformin Improves Neurological Outcomes in Lafora Disease

2. Effect of Alglucosidase alfa (Myozyme) Therapy in Lafora Disease

3. Antisense oligonucleotide (ASO) therapy targeting Gys1 gene

4. Identifying CSF and PET scan biomarkers to evaluate progression of Lafora Disease

Questions? Contact Maysoon Hussain (maysoonhussain1@chelseashope.org).

See our resources page
Chelsea's Hope Lafora Children Research Fund's 2023 ANNUAL REPORT a photo of the report cover page is to the right

Reflecting on Progress: Explore Our Impact in the Chelsea’s Hope 2023 Annual Report

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Chelsea's Hope Lafora Children Research Fund's 2023 Annual Report cover pageChelsea’s Hope published its 2023 Annual Report. Inside, you’ll find a letter from our President, a breakdown of our 2023 impact, financials, and what’s next. Our progress is all thanks to the support of our community. Our work is all for our children fighting Lafora Disease.

Since our humble beginnings as a blog started by Chelsea Gerber’s family in 2007, Chelsea’s Hope has remained committed to sharing Lafora stories and connecting families. In 2009, we became a 501c(3) organization to raise funds for research, treatment, and, ultimately, a cure for those affected by Lafora Disease. There are now promising treatments in the pipeline, all thanks to the dedication of the Lafora research network. In 2023, we updated our mission statement to reflect the challenges we seek to overcome.

Our current mission is to improve the lives of those affected by Lafora Disease and help accelerate the development of treatments.

2023 Achievements

Despite its challenges, last year included hopeful advancements. Learn more about our events, programs, and milestones in the 2023 Impact section of the Report.

In 2023, we…

  • Developed a new mission statement.
  • Started the Lafora Disease Research Roundtables.
  • Launched our Volunteer program.
  • Received a 2023 Patient-Partnered Collaborations for Rare Neurodegenerative Disease grant from the Chan Zuckerberg Initiative.
  • Launched a Sibling Support Group program.
  • Welcomed a new secretary to the Board of Directors.
  • Appointed a new Vice President to the Board of Directors.
  • Received a unique ICD-10 Code for Lafora Disease – G40.C – on October 1, 2023. 
  • Supported the 8th Annual Lafora Disease Science Symposium.

Much of our work was possible thanks to the capacity-building grants from the Chan Zuckerberg Initiative. We also received support from the Danny Did Foundation, Vibe Bio, the Every Life Foundation, and generous donations from the Weiss family. We appreciate all our 2023 donors! Your contributions will support our work in 2024.

2024 Goals

However, 2023, like every year before, also left us mourning the passing of more children. We need to stop this.

Our goals for 2024 are to: 

  • Grow and accelerate science objectives that further clinical treatments.
  • Expand and maintain a strong, collaborative, and actionable research network.
  • Strengthen the Chelsea’s Hope organization by hiring dedicated staff.
  • Be an essential source and repository of information for families, clinicians, and researchers.

What’s next? 

  • We will build consensus for standards of care and biomarkers. 
  • Drug Screening for potential repurposing to treat Lafora Disease. 
  • We are expanding the Lafora Disease Patient Registry and launching a Caregiver Registry. 
  • We are hosting the 2024 Lafora Disease Science Symposium and quarterly Research Roundtables. 
  • 2024 Internship Program to make scientific research more accessible to the patient community.

 

Are you interested in being part of the next chapter of our mission? There are many ways to get involved! One way to stay connected is to sign up for our mailing list, which includes job and board postings and research updates. You can also follow our social media for regular updates. Finally, we always welcome donations and volunteers to support our cause.

We remain committed to reaching a cure for Lafora this year and beyond. Thank you for your partnership!

Read the 2023 Annual Report

Chelsea’s Hope supports Purple Day 2024

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Purple Day - March 26 www.purpleday.orgIn unity with worldwide epilepsy advocates, Chelsea’s Hope has pledged its support for World Purple Day 2024. Epilepsy advocate Cassidy Megan founded the international initiative to raise awareness about epilepsy. Today, on March 26, people wear purple to show solidarity with those affected and support advocacy efforts. 

Approximately 50 million people live with epilepsy globally, including Lafora Disease warriors. An extremely rare epilepsy, Lafora is complex and has limited treatment options. Symptoms of the disease, also known as Lafora progressive myoclonus epilepsy, include increasingly recurrent, intractable seizures and myoclonus. 

Chelsea’s Hope remains committed to improving the lives of those affected by Lafora Disease. Accordingly, the organization has shared social media advocacy tools to raise awareness about the unique challenges of Lafora, as well as links to other organizations and support that families could benefit from on our Resources page. 

If you join in sharing on social media, then here are some caption ideas: 

💁‍♀️ Share about who you wear purple for.

💬 Explain some facts, like how Lafora Disease is often misdiagnosed as Juvenile Myoclonic Epilepsy.

🧠 Describe symptoms of Lafora, like recurrent seizures.

Purple Day is an opportunity for education and empathy for all affected by epilepsy, including Lafora patients and their loved ones. Together, we can work towards a future where epilepsy is better understood and all individuals receive the support and care they deserve. Together, we fight Lafora.

MEET THE TEAM

Five Interns to Join Chelsea’s Hope

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Chelsea’s Hope is delighted to announce we are expanding the team by hiring five interns through March and April. While the organization initially posted three opportunities, there were so many impressive candidates that the Board of Directors approved five internships.

Chelsea’s Hope is expanding its capabilities to meet our goals and strategy by hiring interns to work in these areas:

  1. Science communications – to help families affected by Lafora Disease better understand the latest research, create educational resources, and expand the website’s science sections.
  2. Research network development – to develop a database of current tools and resources for the Lafora scientific community to promote research collaboration.
  3. Caregiver registry – to develop a registry of Lafora caregivers and create the first questionnaire to support families better.

Meet the Team

Text says 'MEET THE TEAM' on top of a photo of Maysoon Hussain, Celine Lozach, Tomás Quintero, Emilie Heller, and Mariah Merriam

Science Communications

Maysoon Hussain recently graduated from Ross University School of Medicine and is applying for her residency in Obstetrics and Gynecology. She became interested in the rare disease space through her mother’s work and her time as a research intern at UT Southwestern. She will start as a Science Communications Intern in March.

Celine Lozach is majoring in Economics and Environmental Science at Baruch College. She has research communication experience as a Yale Conservation Scholar and previously worked at Make-A-Wish. She will start as a Science Communications Intern in March.

Tomás Quintero is a recent graduate from Davidson College with a passion for neuroscience and medical research. He is a Fulbright Scholar in Colombia and is committed to making science accessible and engaging for everyone. He will start as a Science Communications Intern in April.

Research Network Development

Emilie Heller is majoring in Chemistry at the University of Washington in Seattle. She looks forward to working with Lafora Research Labs to enhance collaboration and facilitate open science. She will start as the Research Network Development Intern in March. 

Caregiver Registry

Mariah Merriam is a longtime volunteer and patient advocate with Chelsea’s Hope. She has two siblings with Lafora Disease and is passionate about reaching a cure and any work to improve the lives of those affected. Mariah is a Research Assistant in Dr. Berge Minassian’s Lafora Disease lab at UT Southwestern Medical Center, and she will start medical school at Western University in Oregon this fall. She will start as the Caregiver Registry Intern in March.

Building a Brighter Future

The internship opportunities closely align with the interns’ career aspirations and personal goals. They will work 10 hours a week under the management of Science Director Dr. Kit Donohue.

Chelsea’s Hope welcomes Maysoon, Celine, Tomás, Emilie, and Mariah. Their passion and commitment to our cause gives us hope for a brighter future, especially in the face of recent challenges in securing treatments for our children. Together, we remain steadfast in our mission to improve the lives of those affected by Lafora Disease.

 

I SUPPORT RARE DISEASE DAY 29 FEB 2024 #RAREDISEASEDAY RAREDISEASEDAY.ORG

Rare Disease Day 2024 Press Release

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SHINING A LIGHT ON LAFORA DISEASE IN GAZA, GLOBALLY

Chelsea’s Hope will raise awareness about Lafora on Rare Disease Day 2024.

SACRAMENTO, Calif. – February 28, 2024 – Chelsea’s Hope Lafora Children Research Fund, a 501(c)(3) nonprofit organization, joins the global rare disease community to advocate for patients like 17-year-old Zaina in Gaza and raise awareness about Lafora on the rarest day of the year – February 29, 2024.

Lafora Disease is a neurodegenerative condition affecting an estimated 200 children worldwide. It is a genetic condition in which patients cannot maintain a normal glycogen concentration, resulting in a toxic accumulation of glycogen, or Lafora Bodies, in the heart, spine, and brain. Symptoms include ataxia, childhood dementia, cognitive decline, and difficulty speaking, walking, and eating.

Zaina was diagnosed with the ultra-rare epilepsy at the age of 13. A stellar student, Zaina applied herself to physical, occupational, and speech therapy just as she had in school. She relied on medication to manage her seizures and lost the ability to speak and move because of her Lafora symptoms.

Currently, Zaina is surrounded by violence and destruction in Gaza. The hospital where she received treatment is no longer operable, and her family has evacuated their home and moved across Gaza several times to escape the fighting. Chelsea’s Hope has remained in contact with her mother, Doaa, since October 8. The worldwide Lafora community has shared their story and supports the family however we can.

“There is nothing in pharmacies…There is no clean place here… Everything is bad… Anyone who can help us and follow Zaina’s topic, please,” shared Doaa.

While Zaina’s Lafora story is similar to other children, she is experiencing extraordinary conditions compared to other patients. This Rare Disease Day, join us in raising awareness. Donate to this GoFundMe to help her family evacuate Gaza.

READ PRESS RELEASE
Headshot of Camilla Bozzi

Volunteer Spotlight: Camilla Translated Six Lafora Disease Resources from English to Italian

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Headshot of Camilla BozziChelsea’s Hope is grateful to announce that volunteer Camilla Bozzi has translated six Lafora Disease resources from English to Italian. The documents will help families access support, educational resources about Lafora, and updates on research.

We had the pleasure of meeting Camilla at the 2023 Lafora Disease Science Symposium in Bologna. She applied to volunteer after learning about the experiences of Lafora families and wanting to help in any way possible. A skilled Italian translator, she’s worked diligently on these six Lafora Disease resources:

Camilla shared, “If I am able to help even one person, one family, connect with the wonderful community behind Chelsea’s Hope, I know I did a good job!”

The team at Chelsea’s Hope is very grateful for the translation assistance. While our site uses Google Translate, we recognize our PDFs and other educational resources are difficult to access for the entire Lafora community. The organization remains committed to translating more of our resources in the future.

Support translation efforts

We are accepting applications for volunteers to translate the same and future documents from English to other languages. Not interested in volunteering? You can still help by sharing about our cause with your networks.

This is the Platinum Seal of Transparency from Candid. It has a platinum border, white square center, and text that says 'Platinum Transparency 2024 Candid.'

Chelsea’s Hope Earns 2024 Platinum Seal of Transparency

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This is the Platinum Seal of Transparency from Candid. It has a platinum border, white square center, and text that says 'Platinum Transparency 2024 Candid.'Chelsea’s Hope is thrilled to announce we’ve just earned a Platinum Seal of Transparency from Candid for 2024!

We are excited to share the work our nonprofit does through our Candid nonprofit profile, and we invite you to view it and keep up to date with our impact. We shared information about our mission, programs, results, financials, and operations.

Chelsea’s Hope wants to ensure you have the progress updates you need to support our work with trust and confidence. Your contributions make our work to reach a cure for Lafora Disease possible. When you donate, know we continue to operate with the highest level of transparency. Our Platinum Seal is a testament to our commitment to our donors and community.

What’s next? 

In 2024, we plan to host two more Research Roundtables and the Lafora Disease Science Symposium. We will also coordinate discussion and fund a consensus document for biomarkers and treatment of Lafora Disease. As always, we will support the amazing Lafora researchers and industry partners as they do the incredible work of developing treatments for our children.

Thank you for supporting our mission of improving the lives of those affected by Lafora Disease and helping accelerate the development of treatments.

This image has a purple background photo of a purple stethoscope and purple ribbon. White text says 'We support' then purple text on a semi-transparent white background says '#EpilepsyDay.' Below, white text says '12 February, 2024.' The Epilepsy Day logo on a white circle is beneath all the text. The white Chelsea's Hope Lafora Children Research Fund logo is in the bottom right hand corner.

Epilepsy Day and SAP 2024

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Chelsea’s Hope Supports Epilepsy Day and Seizure Action Plan Awareness Week 2024

This image has a purple background photo of a purple stethoscope and purple ribbon. White text says 'We support' then purple text on a semi-transparent white background says '#EpilepsyDay.' Below, white text says '12 February, 2024.' The Epilepsy Day logo on a white circle is beneath all the text. The white Chelsea's Hope Lafora Children Research Fund logo is in the bottom right hand corner. Chelsea’s Hope proudly supported Epilepsy Day on Monday, February 12, 2024.

This International Epilepsy Day, we joined in raising awareness on social media, including sharing facts about Lafora progressive myoclonus epilepsy. For example…

Did you know? 

  • Seizures in adolescence are one of the first symptoms of Lafora Disease.
  • Lafora Disease is commonly misdiagnosed as Juvenile Myoclonic Epilepsy.
  • Lafora Disease symptoms include recurrent, increasingly intractable seizures.
  • Lafora Disease symptoms include muscle jerks and spasms, also called myoclonus.

We educated new audiences across platforms about Lafora Disease and will continue to do so beyond Epilepsy Day. Chelsea’s Hope believes raising awareness about Lafora will lead to better funding, support, and opportunities for all those affected by the rare epilepsy. We invite you to join and have resources available to help your advocacy efforts. 

Chelsea’s Hope also signed the Epilepsy Action Network letter to President Biden, requesting increased federal investment for epilepsy research.

Seizure Action Plan Awareness Week 2024

SEIZURE ACTION PLAN AWARENESS WEEK February 12-19, 2024. The SAP SEIZURE ACTION PLAN COALITION logo is in the bottom center of the image. #SAPAW2024 SeizureActionPlans.org

Epilepsy Day has kicked off seizure action plan (SAP) awareness week, February 12-19, 2024! Since Lafora symptoms include seizures, having a plan in place with tailored guidelines on how others can respond could create comfort and reduce complications in an emergency situation.

Educate and empower your family and friends to respond if your loved one has a seizure. It’s never too late to develop a SAP with your Lafora patient’s care team and healthcare provider! Visit https://seizureactionplans.org/ to get started. You can also join the SAP coalition in raising awareness through social media!