Enroll in Research
Here are a few researchers working on Titin that you can contact:
Boston Children’s Hospital
Casie Genetti, Genetic Counselor
Study of atypical titinopathies, including persons with skeletal or cardioskeletal symptoms and single TTN variants.
Jen Roggenbuck, MS, CGC (Genetic Counselor)
Ohio State University
Jennifer.Roggenbuck@osumc.edu learn more here:
Gene and heart disease research:
Prof. Diane Fatkin, MD
Victor Chang Cardiac Research Institute and St Vincent’s Hospital, Australia
firstname.lastname@example.org Learn more here:
For help with diagnosis:
Prof Bjarne Udd, MD, PhD
Tampere Neuromuscular Center
Folkhälsan Research Institute, Helsinki
bjarne.udd@netikka learn more here:
Clinical Trials – Click for information
– Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy (DIAMYOTIT)
– Exploratory Study of Danicamtiv in Patients With Primary Dilated Cardiomyopathy (DCM) Due to Genetic Variants
– 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
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