Mi pequeña hija Maddison,es una bebé q nació con una enfermedad rara llamada mucolipidosis tipo 2,sin cura ni tratamiento, solo existe ella de su tipo en el estado de Florida en Estados Unidos,menos de 8 niños en el país y menos de 100 en el planeta ,por su delicada condición maddie no puede llevar una vida social ni asistir a la escuela,su enfermedad está en progreso y cada día q pasa se deteriora más,la acumulación de carbohidratos y grasas en su pequeño cuerpo de bebé desata un sin fin de complicaciones médicas las cuales no pueden ser tratadas por el total desconocimiento de la enfermedad a nivel médico,sólo unos pocos científicos trabajan en encontrar una cura para tan grave enfermedad por lo q es de un alto costo los estudios científicos.

Queremos acudir a gofundme para ayudar a crear un estudio clínico para estos ángeles que merecen vivir.

Además de cubrir necesidades médicas y en el hogar en la vida de maddie

Quisiera agradecer a cada persona que q hemos tocado su corazón y a contribuido para dar un rayo de esperanza a nuestra pequeña y todos esos niños q son tan amados y q tienen el derecho de vivir ❤️‍cada donación hecha nos lleva a tener más serca un sueño muy deseado por muchos padres q solo han vivido en oscuridad como yo,gracias a gofundme por hacer esto posible y por brindarle a los todas esas personas un lugar seguro para donar y hacer q nuestros niños tengan la esperanza de vivir ,a continuación quiero mostrar el estado de las investigaciones y lo q se espera lograr,Gracias ❤️‍Newsletter - February 2025

As we welcome 2025, the New Year offers opportunities for a fresh start and new possibilities. It’s also a time to reflect on how we can continue to make progress together for our rare disease.

2024 was a year of frustration and slow progress in our gene therapy development for ML alpha/beta. Due to these challenges, we decided to reassess our approach and prioritize what would work best for our community. Late in 2024, we began discussions with the University of Massachusetts (UMass) to explore whether they could take over our research and advance our gene therapy efforts. We are thrilled to announce that UMass has agreed to take on Gene Therapy development for Mucolipidosis alpha/beta.

This week we officially signed our contract with them creating a partnership with UMass and Cure Mucolipidosis.

Progress to Date

Construct and Vector Development: The UMass research team has been deeply analyzing ML alpha/beta research papers and is now ready to move forward with construct and vector development. They have been evaluating potential promoters that could be effective for ML and plan to develop and test seven constructs in cell lines, which they will create in-house. Additionally, they are exploring the exciting possibility of incorporating peptides that specifically target bone. From these seven constructs, only the most promising ones will move forward.

Mucolipidosis Gamma: This variant introduces unique challenges in treatment development. We are currently in discussions with UMass to explore the possibility of developing a construct that addresses both Alpha/Beta and Gamma simultaneously. One of the key questions we’re investigating is whether these two genes need to interact with each other for effective therapy or if they can function independently. We are committed to resolving these scientific questions and will keep Gamma families updated as we make progress.

Mouse Model: A suitable mouse model has been identified and will be imported in the coming week to begin colony growth. This step is critical for advancing preclinical studies.

Project Management: A dedicated project manager has been appointed to oversee and track progress, ensuring the project stays on schedule and achieves its milestones.

Dedicated Researcher: A dedicated research lead has been employed for 1 year to work solely on our project. This will enable the project to be fast-tracked to animal studies. The UMass research team will support the research lead

A Monumental Leap Forward

The UMass facility has the capability to take us from the early stages of research all the way through clinical trials, Pre-IND submission, and FDA approval. This comprehensive support represents a monumental leap forward in addressing our very rare and complex disease.

The Road Ahead

While we currently have enough funding to proceed to animal trials, significant additional funding will be required to support the next phases of development. Once all budgets are finalized, we will organize a meeting to share detailed information with the Mucolipidosis community and you will be able to hear presentations from the research team at UMass. Transparency and collaboration remain at the heart of our efforts, and we are committed to keeping everyone informed as we move forward.

Together, we can continue to make meaningful progress toward a cure for Mucolipidosis alpha/beta. Thank you for your unwavering support, and here’s to a hopeful and productive 2025!

Warm regards,

The Cure ML Team

Sialidosis Gene Therapy Progress

We are pleased to share that progress for the Sialidosis Gene Therapy program is moving along very well. This important work is being done by UMass in partnership with Cure ML.

To ensure the program’s success, we have established a dedicated development team for Sialidosis this year.

The team members are:

Dan Peach (Lead)

Jenny Noble

Kavitha Patnaik

Hussain Peeran

Ciska Posdijk

This team will be responsible for all communications with UMass and will oversee contracts as we approach the clinical trial phase. They will also track fundraising efforts to ensure we meet key milestones.

Once we get closer to clinical trials, the development team will begin holding monthly meetings with UMass. Updates will be shared with families through Town Halls and newsletters to keep everyone informed.

How You Can Help: Now is the perfect time for families to start thinking about how they can get involved in supporting fundraising for clinical trials. Every effort—big or small—helps bring us closer to life-changing treatment for Sialidosis!

Thank you for being part of this incredible journey. We’re so excited for what’s ahead and can’t wait to share more updates with you soon!

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Maddie ha presentado serias complicaciones en la evolución de su enfermedad por lo q desde el 7 de abril fue admitida en el hospital con un fallo respiratorio, tubo tres extubasiones fallidas por lo q el 15 de mayo se tuvo q realizar uña traqueotomia para poder tenerla viva,aunque no fue una decisión fácil,ha traído como consecuencia un nuevo comienzo en la vida de todos y en especial en la de ella,hacer una réplica de una habitación de hospital en casa,lograr un equipo médico en casa capaz de llevar a cabo su estabilidad y calidad de vida lo mejor posible, por lo que a mí como cabeza de familia se me ha incapacitado trabajar por 4 meses y esto ha hecho q mi trabajo haya sufrido las consecuencias y por lo tanto el sustento de mi familia, pedimos encarecidamente la ayuda a la comunidad para poder hacer de la vida de maddie un poco más duradera y que mi integridad física y psicológica se mantenga fuerte para seguir luchando por su vida el tiempo q Dios me la regale ❤️‍