For families and patients

Explained in plain words

On this page we explain what restrictive cardiomyopathy is, what C27 is and how far the research has come. Without jargon, and honest about what we do not know yet.

What is restrictive cardiomyopathy?

In restrictive cardiomyopathy (RCM) the heart muscle is too stiff. The heart still squeezes well, but it does not relax enough between two heartbeats. As a result, the heart fills less well with blood. RCM is rare, especially in children.

What does the TNNI3 gene have to do with it?

The TNNI3 gene holds the instructions for troponin I, a protein in the heart muscle that helps the muscle relax after each beat. In some children with RCM there is a change (variant) in this gene. Because of it, the heart muscle reacts too strongly to calcium and stays partly ‘switched on’.

What is C27?

C27 is a small piece (a peptide) of that same troponin I protein. In laboratory research, C27 helped heart muscle tissue relax better without reducing its squeezing force. The idea is that C27 might help restore the ‘switching off’ of the heart muscle between beats.

How far has the research come?

• C27 has not yet been tested in people.
• The next step is testing in heart tissue grown in the laboratory from patients’ cells.
• After that, a first small study with a very low dose would show where C27 goes in the body. That study does not yet look at whether C27 helps.
• Only if that goes well can studies follow that look at whether C27 works and is safe.

This takes years, and C27 may also turn out not to work or not to be suitable. We share updates on our news page.

Can my child receive C27?

No, not at this time. C27 is not an approved medicine and is not available outside research. Lusitro cannot give medical advice. If you have questions about your own or your child’s treatment, please discuss them with the treating (paediatric) cardiologist.

Contact

We would like to hear from families affected by TNNI3-related RCM. E-mail us at mark@lusitro.com. Please do not send medical information by e-mail.