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

Exciting news about research funding for people with TTN-related health conditions!

November 29,  2021 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 Dr 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.  The project’s kick-off is expected early next year, after all formalities have been completed. 

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, Titin Family advocate, 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.”

For affected individuals who are interested in participating, enrollment information is expected to follow in 2022.

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

ZNM – Zusammen Stark e.V. is a self-help association for myotubular myopathy and other centronuclear myopathies (CNM = ZNM). We represent 179 individuals from 68 families with a CNM in Germany, the Netherlands and Austria. 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 is a consortium of scientists and affected community members whose mission is to make a worldwide difference in Titin-related muscle and heart disorders by: collaborating with other organizations, raising awareness, providing education, and supporting research. Our goal is to serve as a catalyst for researchers and clinicians to develop a better understanding of Titin related disorders leading ultimately to a cure.

 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 

Pivot Principles for Families with Muscle and heart disorders

Let’s face it, for families who face chronic health conditions life doesn’t always go to plan. Over the years, my family has faced many decision points due to unexpected events like illness or medical issues. I was recently helping a friend talk through a necessary pivot when I realized we had developed “Pivot Principles” over the years that help us to navigate decision points. So, here I share them with you:

1. What INFORMATION do I need to make this decision? For example: Results of a COVID test after exposure? or What is the status of disrupted work schedule for needed caregivers? or Can I get a refund on that reservation? or What does our pediatrician think about flying with this ear infection?

2. WHEN do I need to make this decision? I found it SO helpful to make a deadline for a decision. This may include the option to not decide right NOW. For example, with travel, can I make this decision 1 hour prior to a cancellation/refund forfeit deadline? Mentally I find this so helpful even if it’s to chose – “I’m not deciding now” but to set a date/time that a decision is needed by. This helps reduce my stress level. Sometimes the situation “shakes out” in the meantime before a decision deadline.

3. Can I prepare in advance to pivot to a NEW PLAN go more smoothly if we have to change course? For example, can you make a second, refundable reservation for a future date? I find that have a future, alternative pivot plan is helpful – even if it never gets used and you end up sticking with your current plan. This mentally helps me get through the disappointment that comes with changing plans. It also has my family prepared and ready to adapt.

4. Acknowledge any disappointments, let go, and try to enjoy the new plan.

For example, high rates of COVID in our community prevented us from taking a planned trip that we were really looking forward to. We set a deadline to check the rate of transmission on a given date before our lodging refund deadline. When the decision deadline arrived, we chose to cancel our trip. We chose to reschedule for 6 months later, which gave us something to look forward to. We adapted by holding onto our time off of work, planning an epic “Staycation” that involved special take out food and visits to our local nature trails. We acknowledged the disappointment we felt from not going on our planned trip to our beloved get-away destination but focused on being together and creating a different kind of fun.

I hope these strategies help you as you enter this holiday season of travel and navigating potential COVID-19 exposures, colds, flu and more. Life will throw us curve balls – I hope you are armed and resilient to adapt.

Best to you all!!