A Global Community.
A Single Mission.
HMERF doesn't recognize borders and neither do we. While our foundation organization is US-based and our research is happening in American labs, every discovery we make belongs to the entire world. Whether you're in Finland, Australia, Brazil, or the UK, if HMERF has touched your life, you are part of this fight.
Global Community & Groups
One of the cruelest aspects of ultra-rare disease is isolation. HMERF is so rare that many patients and families go years without ever meeting someone else who understands what they’re facing. That changes here.
We are building a connected, worldwide community of patients, caregivers, and advocates — a place to share experiences, find support, and stay informed as science moves forward. No matter where you live, your voice and your story matter to this mission.
Join the Global HMERF Registry
Your data could be the data that changes everything. For someone just like you, somewhere in the world.
For a disease as rare as HMERF, every patient matters – not just to their own family, but to the entire research effort. The more data researchers have, the faster they can understand how this disease progresses, who it affects, and how a treatment can work.
We are building the first-ever dedicated global registry for HMERF patients and families. Wherever you are in the world, you will be able to register, share your data, and become an active part of the search for a cure.
What the registry will allow you to do:
- Share your diagnosis, genetic mutation, and disease progression data with researchers
- Help scientists understand the true scale and spread of HMERF globally
- Be among the first to be contacted when clinical trials open
- Connect with other patients and families who share your mutation or experience
- Contribute to the natural history of the disease — information that doesn’t exist yet and can only come from you
Research & Resources
Everything We Know, In One Place
Finding reliable information about HMERF shouldn’t require a medical degree or hours of searching. We’ve gathered the most credible, publicly available resources from researchers, medical databases, and rare disease organizations worldwide — so patients, families, and clinicians anywhere in the world have a starting point.
Many of the researchers behind these studies are members of our own Scientific Advisory Board. This is the global scientific community working on HMERF and we are directly connected to it.
Understanding HMERF
These are the authoritative medical and scientific references on the disease itself.
GeneReviews® — HMERF Overview (NCBI/NIH) The definitive clinical reference, last updated December 2024. Covers diagnosis, genetics, management, and family counseling. Link: https://www.ncbi.nlm.nih.gov/books/NBK185330/
NORD — Dominant Titinopathy (National Organization for Rare Disorders) Plain-language overview of HMERF and related titinopathies for patients and families. Link: https://rarediseases.org/rare-diseases/dominant-titinopathy/
Orphanet — HMERF Disease Entry (European rare disease database) International rare disease classification and clinical summary, used widely by European clinicians. Link: https://www.orpha.net (search: HMERF)
OMIM #603689 (Online Mendelian Inheritance in Man) The official genetic database entry for HMERF — useful for clinicians and genetic counselors. Link: https://www.omim.org/entry/603689
Key Published Research
“HMERF: Still Rare, But Common Enough” — Tasca & Udd, Neuromuscular Disorders, 2018 A pivotal review showing HMERF is more widespread than previously thought, with cases documented across multiple continents. Link: https://pubmed.ncbi.nlm.nih.gov/29361395/
“HMERF: Occurrence in Various Populations” — Palmio et al., JNNP, 2014 International study documenting HMERF in 12 families across 7 countries, establishing it is not restricted to Northern Europe. Link: https://pubmed.ncbi.nlm.nih.gov/23606733/
“Expanding the Importance of HMERF Titinopathy” — Palmio et al., Journal of Neurology, 2019 Documents 12 new families from diverse ethnic origins including Filipino, Afghan, Russian, Italian, Portuguese, French, and Argentinian patients. Link: https://pubmed.ncbi.nlm.nih.gov/30666435/
“Cardiac Involvement in HMERF” — Pfeffer et al., JNNP, 2017 Important study showing cardiac complications should be monitored in HMERF patients — relevant for care teams worldwide. Link: https://pubmed.ncbi.nlm.nih.gov/27511179/
“Exome Sequencing Identifies Titin Mutations in Diverse Ethnic Origins” — Toro et al., BMC Neurology, 2013 Documents HMERF in US, Canadian, and Spanish families — one of the early studies proving global distribution. Link: https://link.springer.com/article/10.1186/1471-2377-13-29
For Clinicians & Genetic Counselors
MDA Care Center Network (Muscular Dystrophy Association — US) Over 150 care centers across the US. The starting point for American patients seeking specialist neuromuscular care. Link: https://www.mda.org/care/mda-care-centers
TREAT-NMD Global Registry Network A federated network of 65 neuromuscular disease registries collecting data from 40+ countries — an important resource for clinicians wanting to connect patients to research. Link: https://www.treat-nmd.org/what-we-do/global-registry-network/
ClinicalTrials.gov — TTN / HMERF Search Search for any active or upcoming studies involving titin mutations or HMERF. Link: https://clinicaltrials.gov (search: HMERF or TTN myopathy)
