ZNM – Zusammen Stark! e.V., Team Titin and the Foye family have joined forces to better understand muscle diseases caused by changes in the TTN gene, known as titinopathies. A joint research grant of 50,000 euros was awarded to carry out a natural history study. Dr. Anna Sarkozy, MD, PhD, and Prof. Giovanni Baranello, MD, PhD, at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital and the UCL Great Ormond Street Institute of Child Health, London, UK. Other partners include Prof. Francesco Muntoni from the same institution and Prof. Heinz Jungbluth at Evelina Children’s Hospital in London, UK. Patients can now be recruited to this project at Great Ormond Street Hospital and Evelina Children’s Hospital will begin recruitment in the near future. For more information about taking part in the project, please contact or g.baranello@ucl.ac.uk.
As with many rare genetic diseases, there are currently no treatment options for patients with titinopathies. One obstacle to the development of new treatments is that titinopathies have not been sufficiently researched. In order for a potential drug to be tested in clinical trials, the typical course of the disease must be well understood. A natural history study aims to understand the natural course of a disease without treatment. This basic knowledge can be used to investigate whether a future therapeutic strategy can improve the course of the disease in a clinical trial. A successful natural history study is therefore an important prerequisite for future clinical trials.
An important aspect of evaluating the natural history study is determining the correct parameters. These parameters are called “outcome measures”. Patients, families and clinicians can work together to find the best parameters to assess the impact of a disease on health and quality of life.
The objectives of this project – called “Preparation for clinical trials for TTN gene-related centronuclear myopathies” – are,
This study will follow ~20 children from the UK for up to 18 months. Eligible children will be between 0 and 18 years of age at the time of enrollment and will be cared for by Great Ormond Street Hospital and Evelina Children’s Hospital.
“We are delighted to have found a partner in Sarah and Team Titin who shares our values when it comes to funding research and giving families hope. Together we are really strong!” – Holger Fischer from ZNM – Together Strong! e.V.
Anna Sarkozy and Giovanni Baranello added: “In recent years, the development of new treatments has evolved rapidly and this funding opportunity comes at just the right time to bring a rare disease like TTN gene-related congenital myopathy into the translational arena. We are honored to partner with ZNM – Zusammen Stark! e.V. and Team Titin for this common goal and look forward to the launch of the project.”
Commenting on the project, Sarah Foye, President of Team Titin, said: “I am delighted to support this important work to better understand congenital myopathy associated with the TTN gene. It is an important step towards a future treatment. The collaborative spirit of ZNM – Together Strong! e.V. makes it easy to work towards our common goals to help families with muscle diseases like centronuclear myopathy. It is an honor to support the work of these esteemed clinicians.”
If you are interested in participating, please contact anna.sarkozy@gosh.nhs.uk or g.baranello@ucl.ac.uk.
The commitment to patient-centered research continues to drive the vision of ZNM – Together Strong! e.V. to find a cure for all people with ZNM and improve their quality of life. Many thanks to all our donors for their generous support!
Would you like to support our work?
About centronuclear myopathies
Centronuclear myopathies (CNM) are a group of rare muscle diseases associated with mutations in various genes, including TTN. Variants in the TTN gene can lead to different clinical pictures. Some of these diseases are associated with symptoms that appear in the womb or shortly after birth, while others develop later in life. The diseases also progress at different rates and vary in severity. Both the skeletal and cardiac muscles can be affected.
About ZNM – Together Strong! e.V.
ZNM – Zusammen Stark! e. V. is a self-help association for myotubular myopathy and other centronuclear myopathies (CNM). We represent 258 people from 92 families with 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 Facebook 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, Inc. is a 501(c)3 non-profit organization founded in 2022 by the Foye family. Our mission is to help those living with muscle and heart diseases related to Titin (TTN) and to research TTN gene-related centronuclear myopathies.
About Great Ormond Street Hospital
Great Ormond Street Hospital is one of the world’s leading children’s hospitals with the largest range of specialist pediatricians under one roof in the UK. The hospital’s pioneering research and treatment gives hope to children from across the UK suffering from the rarest, most complex and often life-threatening conditions.Our patients and families are at the heart of everything we do – from the moment they walk through the door and for as long as they need us.
About the UCL Great Ormond Street Institute of Child Health
The UCL Great Ormond Street Institute of Child Health (ICH) is part of the Faculty of Population Health Sciences within the School of Life and Medical Sciences at University College London. Together with its clinical partner Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH), it forms the UK’s only National Institute for Health Research Biomedical Research Centre and has the largest concentration of child health research in Europe. For more information visit www.ucl.ac.uk/child-health
Judith Wartenburger
Assistant to the board of
ZNM – Together Strong! e.V
Tel.: 01515 4820534
Email: judith.wartenburger@znm-zusammenstark.org
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