Dr. Sarkozy and Prof. Baranello’s project update November 2024
[Stuttgart, Pine Brook, November 8, 2024] – ZNM – Zusammen Stark! e.V., in collaboration with Team Titin, is pleased to share the encouraging one-year results of the TREATIN project (Trial REAdiness for tiTIN-related centronuclear myopathies). Led by Dr Anna Sarkozy and Prof Giovanni Baranello from Great Ormond Street Hospital in London, TREATIN -a natural history study- is deepening our understanding of titin-related centronuclear myopathy (TTN-RM) and building a foundation for future clinical trials.
Natural history studies play a crucial role in rare disease research, as they allow researchers to map typical patterns, symptoms, and progression for conditions like TTN-RM over time. By understanding how TTN-RM develops naturally, researchers and medical personnel can improve diagnosis, refine management strategies, and prepare clinical trials to accurately measure treatment efficacy. Dr. Anna Sarkozy shared, “The first year of TREATIN has provided essential data that helps us understand TTN-RM natural progression. By evaluating participants every six months, we will identify the most affected muscles and symptoms, which is key to building clinical trials that truly reflect the needs of patients.”
Key Highlights from the TREATIN Project’s First Year
The TREATIN project has surpassed its recruitment target, enrolling 21 patients aged 18 and younger across two major centers. This exceptional participation underscores the community’s commitment to advancing TTN-RM research and the hope this study represents.
- New physiotherapist recruited: The physiotherapist has been instrumental in establishing standardized medical and physiotherapy worksheets for consistent data collection across study sites, developing a study database, and engaging potential participants.
- Respiratory and advanced muscle assessments: Enrolled patients underwent their initial respiratory, ultrasound, and MRI assessments. The muscle analysis has already begun identifying specific muscle groups most affected by TTN-RM.
Sarah Foye, President of Team Titin, expressed her enthusiasm, saying, “the TREATIN project represents a major step forward for our community, giving families not only validation but real hope. This is what happens when patient associations, dedicated scientists and families unite toward a common goal.”
Thomas Römer, a father of a child with TTN-RM, added, “To see TTN-RM symptoms and needs so carefully studied means a lot to us.”
Thank You to Our Supporters and Call for Action
We extend our deepest gratitude to our generous supporters, scientific advisory board, external expert evaluators, researchers and families participating in the trial who have made these first results possible. While the TREATIN project is fully funded, advancing our mission to find effective treatments for TTN-RM and all forms of centronuclear myopathies (CNM) requires ongoing support. Every donation enables us to grant new projects to develop treatments and improve quality of life for all CNM patients.
Therefore, we invite anyone inspired by TREATIN’s progress to contribute to Team Titin in the USA and ZNM – Zusammen Stark! e.V. in Europe. Together, we can drive forward essential research for TTN-RM and all CNM families.
Would you like to support our work?
About ZNM – Zusammen Stark! e.V.
ZNM – Zusammen Stark! e. V. is a self-help association for myotubular myopathy and other centronuclear myopathies (ZNM). We represent 258 people from 92 families with a CNM in Germany, the Netherlands, Austria, Switzerland and Belgium. As a self-help organization, our main goal is to connect those affected and their families and to support each other in everyday life. This is mainly done through our annual family conference, webinars and our closed online support group. We are also actively investing in research to find a treatment for these diseases. For more information, please visit www.znm-zusammenstark.org
About Team Titin
Team Titin is 501(c)3 nonprofit based in the USA. Our mission is to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders around the globe. To achieve this mission, we focus on four key pillars: Connection, Advocacy, Care, and Research. You can learn more at www.TitinMyopathy.com
About Great Ormond Street Hospital in London
Great Ormond Street Hospital is one of the world’s leading children’s hospitals, with the largest number of specialized pediatricians under one roof in the UK. Its groundbreaking research and treatment offer hope to children across the UK suffering from rare, complex, and often life-threatening illnesses. At the heart of all its work are patients and their families, who receive dedicated care from the moment they arrive and for as long as they need support.