Dear Friends, Partners, and Followers of the Cure Mito Foundation,
Welcome to our May 2024 Newsletter! In this newsletter we are sharing our news from the past month, new grants and collaborations, Leigh Syndrome patient registry and C-Path Taskforce updates, opportunity for newly diagnosed families to request a care package from us, and more! Plus, don't miss out on registering for the upcoming Leigh Syndrome Symposium — details are provided below, and we'll be sharing a detailed agenda shortly. Stay tuned for more information and insights in this issue!
As always, we hope you find this newsletter will leave you more hopeful, uplifted and inspired,
The Cure Mito team
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"Hope sees the invisible, feels the intangible, and achieves the impossible.” —Helen Keller—
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We are thrilled to share news of our continued collaboration with Dr. Gray's Lab at UTSW, focusing on gene therapy for Leigh syndrome. This study moves us closer to launching a clinical trial. To learn more about this project and to offer your support, please click HERE.
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Unravel Bio Collaboration |
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We are excited to announce that we have partnered with Unravel Biosciences through their rareSHIFT program to collect and analyze RNA profiles from 20 Leigh syndrome patients with one of three mutated genes (SURF1, ECHS1, MT-ATP6). The data will be used to understand the very diverse Leigh syndrome patient population and made available for further research.
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Unravel’s AI-powered BioNAV drug screen will use the data to identify potential drug repurposing candidates by screening each patient against over 40,000 molecules as a first step in rapid drug repurposing tailored to Leigh syndrome patient subgroups.
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Leigh syndrome global patient registry updates |
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We've had a listening session with the FDA discussing our patient registry, including the ways we follow FDA registry guidance, and data interoperability with CDISC and OMOP.
This listening session is our 2nd, following one in 2023. We are grateful for the opportunities to discuss our registry and hear FDA feedback, comments, and questions.
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OMOP (Observational Medical Outcomes Partnership) is a model used to standardize how health information is organized across different healthcare systems.
Parag Shiralkar from Sumptuous Data Sciences presented our Leigh syndrome registry data interoperability project with OMOP standards, during OHDSI India Chapter meeting.
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These are the outcomes of the OMOP Project: - All registry data could be modeled and transformed into OMOP-CDM.
- Most relevant and appropriate concepts and terminologies were applied to the data.
- Output was in accordance with the OMOP-CDM Version 5.4.
- Data can be used to research, and analytics tools developed by OHDSI forum.
- Three-way transformation between raw data/CDISC/OMOP has been achieved.
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Benjamin Forred Speaks at FDA Workshop |
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Benjamin Forred, director of the Sanford Research CoRDS patient registry platform used for our registry gave a great talk at the workshop held by Reagan-Udall Foundation for the FDA. Please hear his talk HERE.
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Sophia and Frances Muenzer Pimentel from Hope for PDCD Foundation spoke to Effie Parks about our registry collaboration to align our data and ease the burden for Leigh syndrome and PDCD families. Please listen HERE or anywhere where you listen to podcasts.
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Mitochondrial and Inherited Metabolic Diseases Taskforce updates
We are excited to welcome LHON COLLECTIVE to the Mitochondrial and Metabolic disease taskforce led by Critical Path Institute, bringing us to 19 members! |
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Why participate or share data?
C-Path RDCA-DAP Portal is an FDA-funded initiative enabling data integration and standardization with scalable analytics for various data types (e.g., registry, clinical trial, imaging, lab draws). It complies with HIPAA, GDPR, and international privacy regulations.
By participating or sharing data with C-Path your data is entrusted to a neutral entity with expertise in data governance, sharing, proper data aggregation and analytics, and working with regulatory bodies.
Data contributors decide how their data is shared and used.
All of this together has the maximum chance of benefiting as many people living with mitochondrial and metabolic diseases as possible.
We encourage all mitochondrial disease stakeholders to participate and share data to maximize the success of any future clinical trials and having approved treatments for the patients. |
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Discussing Mito Taskforce Development at World Orphan Drug Congress |
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In April, Kasey and Sophia attended #WorldOrphanDrugCongress in Boston where they discussed development of the taskforce during a roundtable: RDCA-DAP TASK FORCES: How to Facilitate drug development in Rare Disease? They were joined by Alexandre Bétourné and Heidi Heidi Grabenstatter from C-Path and Douglas Sproule from Bridge Bio.
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If you or your loved one have been diagnosed with Leigh syndrome within the past 6 months, we want to extend our support to your family by offering a care package. This opportunity is generously sponsored by an anonymous donor. It is currently available to US families only.
Please request a package HERE.
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Poster: Empowering Leigh Syndrome Families: The Creation of 'About Leigh Syndrome' Online Resource
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Our poster "Empowering Leigh Syndrome Families: The Creation of 'About Leigh Syndrome' Online Resource" displayed at the Rare Drug Development Symposium hosted by Global Genes. To view poster in full size please click HERE.
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Thank you GFL Environmental! Thank you GFL Environmental Inc. for a $5,000 grant to the Cure Mito Foundation in the honor of their employee Aaron Times, whose son Asher has Leigh syndrome.
The grant will be used for a special project for our community, please stay tuned! |
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Catalyzing Change: Bridging Bench-to-Bedside with Patient Voices. |
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Kasey participated in a panel "Catalyzing Change: Bridging Bench-to-Bedside with Patient Voices" organized by Biotechnology Club at UT Southwestern. Thank you for the opportunity to share our voice at this event!
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Empower and Inspire: 3rd Annual Leigh Syndrome Symposium registration is open! |
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Please save your spot today, our conference platform was at full capacity the previous 2 years.
If you are interested in speaking please fill out the form by clicking HERE. If you are interested in sponsoring, please reach out to us at info@curemito.org
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Thank you to our symposium sponsors |
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Leigh Syndrome Families Checklist
Join the Global Leigh Syndrome Patient Registry
Add your doctors to the medical provider directory
Join our Facebook group
Become a partner family
Volunteer
Join annual Leigh syndrome symposium
Share your story
Share our printable flyers with your medical team, family and friends
Follow us on social media
Shop in our Bonfire store
Make a donation
Open a fund in honor or memory of your loved one
Start your own fundraising event
Suggest your own idea or project |
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Remember to visit our website to download and print flyers and bring to your own event, fundraiser, share with your medical team, and more! Learn more HERE.
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FREE GENETIC TESTINGCure Mito has partnered with Probably Genetic to increase access to genetic testing within our community. Probably Genetics’ no-cost genetic testing program for mitochondrial disorders is patient-initiated and includes genetic counseling to explain any questions or findings. Please learn more HERE.
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Cure Mito Foundation is a 501(c)(3) nonprofit organization led by parents who volunteer their time to search for a cure. 100% of your donations are tax-deductible and will go directly to research dedicated to mitochondrial diseases.
For many ways to give, please click here: |
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