ZNM – Zusammen Stark! e.V. and Team Titin fund study of titinopathy

April 2, 2024 by Holger Fischer and Sarah Foye

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, which are called titinopathies. A joint grant of 50,000 Euros has been awarded to Dr Anna Sarkozy, MD, PhD and Prof Giovanni Baranello, MD, PhD at the Dubowitz Neuromuscular Centre, Great Ormond Street Hospital and UCL Great Ormond Street Institute of Child Health, London, UK. Additional partners also include Prof Francesco Muntoni from the same Institution, and Prof Heinz Jungbluth at Evelina Children’s Hospital in London, UK.  This project is now open for recruitment of patients at Great Ormond Street Hospital and Evelina Children’s Hospital. For further information about how to participate, please contact anna.sarkozy@gosh.nhs.uk or g.baranello@ucl.ac.uk.

As is the case for many rare genetic diseases, there are currently no treatments available for patients with titinopathies. One obstacle for the development of new treatments is that titinopathies are not sufficiently studied. In order for a potential drug to be tested in clinical trials, it is crucial that the typical course of the disease is well understood. A natural history study aims to understand what is the natural course of a medical condition without treatment. Having this baseline knowledge will help to investigate if a future therapeutic strategy can improve the course of the disease within a clinical trial. A successful natural history study is therefore an important requirement for clinical trials in the future.

An important piece in assessing natural history is identifying the right parameters to measure the course of the disease. These parameters are called “outcome measures.” Patients, families and clinicians can work together to find the best parameters to help assess the impact of a medical condition on health and quality of life.

This grant funding is for a project entitled “Improving clinical trial readiness for TTN gene related centronuclear myopathies”. The goals of this project are to:

  • Better understand the natural history of children with TTN-related congenital myopathy (TTN-RM).
  • Identify the best assessment parameters (outcome measures).
  • Validate if the use of muscle imaging by ultrasound and MRI can help with diagnosis and tracking status over time.

This study will track ~20 children in the UK over an 18-month period.

“We are very happy to have found in Sarah and Team Titin a partner that shares our values in the way to fund research and to give families hope. We are indeed together strong!” – Holger Fischer from ZNM – Zusammen Stark! e.V.

Anna Sarkozy and Giovanni Baranello, added “over the last years, development of new treatments has been moving fast and this funding opportunity is timely to push a rare condition such as TTN-gene related congenital myopathy into the translational field. It is an honour for us to work with ZNM – Zusammen Stark! e.V. and Team Titin for this common goal and we are looking forward to starting the project”.

Sarah Foye, President, Team Titin said of the project, “I am thrilled to be supporting this important work to better understand TTN-gene related congenital myopathy. It’s an important step towards moving forward to a future treatment. The collaborative spirit of ZNM – Zusammen Stark! e.V. makes it easy to work together towards our common goals of serving families with muscle disease like centronuclear myopathy. It is an honor to be supporting the work of these esteemed clinicians.”

About ZNM – Zusammen Stark! e.V. (CNM – Together Strong!)

ZNM – Zusammen Stark! e.V. logo

ZNM – Zusammen Stark e.V. is a self-help association for myotubular myopathy and other centronuclear myopathies (CNM = ZNM). We represent 268 people from 105 families from Germany, Austria, the Netherlands, 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 our daily lives. This is mainly done by our yearly family conference, webinars and our closed Facebook support group. We also actively invest in research to find a treatment for these conditions. For more information please visit https://www.znm-zusammenstark.org/en

About Team Titin

Team Titin, Inc is a 501(c)3 nonprofit started by the Foye family in 2022. Our mission is to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders.

About Great Ormond Street Hospital 

Great Ormond Street Hospital is one of the world’s leading children’s hospitals with the broadest range of dedicated, children’s healthcare specialists under one roof in the UK. The hospital’s pioneering research and treatment gives hope to children from across the UK with the rarest, most complex and often life-threatening conditions. Our patients and families are central to everything we do – from the moment they come through the door and for as long as they need us. 

About 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 paediatric National Institute for Health Research Biomedical Research Centre and has the largest concentration of children’s health research in Europe. For more information visit www.ucl.ac.uk/child-health