Research

Enroll in Research

Here are a few researchers working on Titin that you can contact:

Study of atypical titinopathies, including persons with skeletal or cardioskeletal symptoms and single TTN variants.
Jen Roggenbuck, MS, CGC (Genetic Counselor)
Ohio State University
[email protected] learn more by watching this YouTube video “2022 SciFam: Team Titin: Titinopathies a friendly guide by Jennifer Roggenbuck, MS, LGC“

Gene and heart disease research:
Prof. Diane Fatkin, MD
Victor Chang Cardiac Research Institute and St Vincent’s Hospital, Australia
[email protected] Learn more by watching this YouTube video, “2021 SciFam: Titin and the Heart“

For help with diagnosis:
Prof Bjarne Udd, MD, PhD
Tampere Neuromuscular Center
Folkhälsan Research Institute, Helsinki
bjarne.udd@netikka learn more in this YouTube interview here with Dr. Udd.
Or watch this video: Marco Savarese, PhD talks about research and genetics related to TTN and titinopathy in this talk, “One gene, multiple diseases: understanding the genetic basis of titinopathies.”

Beggs Laboratory
Boston Children’s Hospital
Casie Genetti, Genetic Counselor
Ph: 617-919-2169
[email protected]

Clinical Trials – Click for information

– Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy (DIAMYOTIT)

– Congenital Muscle Disease Study of Patient and Family Reported Medical Information (CMDPROS) click here for information.

Please enroll in The Congenital Muscle Disease International Registry! www.cmdir.org

Your data has power! Please enroll in the CMDIR.

For people with Centronuclear Myopathy Subtype of Titinopathy

There are several other registries relevant to myotubular and centronuclear myopathy which also have global coverage, and it can be hard to know which one to join. This choice is up to you; and if you are eligible, you can join as many registries as you like. We all work together to achieve our goals.

Whether you join one registry or all of them, it is very important that you complete all the information fully and keep it up to date when prompted. This helps us to understand your data correctly and avoid double-counting if we do research together in future.

You are now on the website for Team Titin which supports the Congenital Muscle Disease International Registry: www.cmdir.org

You can use the links below to learn more about the other registries available for these conditions, and whether you are eligible to join:

Myotubular and Centronuclear Myopathy Patient Registry mtmcnmregistry.org
International Family Registry for Centronuclear and Myotubular Myopathies: www.joshuafrase.org/get-involved/global-map
Registry for RYR-1-related diseases: www.ryr1.org/registry

The Heart Hive is an online portal where people with heart muscle diseases can sign up to take part in research studies. Their mission is to connect researchers and people with heart conditions to accelerate research and improve future care. Find out more at thehearthive.org or contact them at [email protected].