Cure MFM13
@curemfm13.org
A patent-driven charitable project, united by a common cause: to address the challenges of MFM13
Pinned
Cure MFM13
@curemfm13.org
· Oct 6
curemfm13.org
Cure MFM13 is the only charitable project dedicated to overcoming challenges of MFM13
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Cure HSPB8 is now Cure MFM13! 📢
The disease we focus on has been officially named Myofibrillar Myopathy type 13 with Rimmed Vacuoles (MFM13) in OMIM, and we’re updating our name to reflect that recognition.
🌍 Same mission, stronger identity.
🔗 Learn more:
The disease we focus on has been officially named Myofibrillar Myopathy type 13 with Rimmed Vacuoles (MFM13) in OMIM, and we’re updating our name to reflect that recognition.
🌍 Same mission, stronger identity.
🔗 Learn more:
In June we launched a new Patient Registry with RARE-X for the Cure MFM13 community. MFM13 is ultra-rare - every patient enrolled helps us learn more about the disease. 8 enrolled so far, from North America, Europe and Australia.
Learn more here: buff.ly/2AfErsk
Learn more here: buff.ly/2AfErsk
October 1, 2026 at 5:03 PM
In June we launched a new Patient Registry with RARE-X for the Cure MFM13 community. MFM13 is ultra-rare - every patient enrolled helps us learn more about the disease. 8 enrolled so far, from North America, Europe and Australia.
Learn more here: buff.ly/2AfErsk
Learn more here: buff.ly/2AfErsk
See you at #WMS2026 in Hiroshima, Japan 🇯🇵 (29 Sep–3 Oct).
Sylwia Szwec-Jóźwiak will represent Cure MFM13 at the 31st World Muscle Society Congress and share insight into our work on HSPB8-associated myopathy (MFM13).
Coming to Hiroshima? Come say hello 👋
Sylwia Szwec-Jóźwiak will represent Cure MFM13 at the 31st World Muscle Society Congress and share insight into our work on HSPB8-associated myopathy (MFM13).
Coming to Hiroshima? Come say hello 👋
September 28, 2026 at 5:02 PM
See you at #WMS2026 in Hiroshima, Japan 🇯🇵 (29 Sep–3 Oct).
Sylwia Szwec-Jóźwiak will represent Cure MFM13 at the 31st World Muscle Society Congress and share insight into our work on HSPB8-associated myopathy (MFM13).
Coming to Hiroshima? Come say hello 👋
Sylwia Szwec-Jóźwiak will represent Cure MFM13 at the 31st World Muscle Society Congress and share insight into our work on HSPB8-associated myopathy (MFM13).
Coming to Hiroshima? Come say hello 👋
MFM6 is a rare form of myofibrillar myopathy caused by heterozygous BAG3 mutations, usually P209L (c.626C>T) OMIM #612954. Onset is often in childhood and severe, with early cardiomyopathy. It can also affect breathing muscles, the spine and heart rhythm.
September 18, 2026 at 5:01 PM
MFM6 is a rare form of myofibrillar myopathy caused by heterozygous BAG3 mutations, usually P209L (c.626C>T) OMIM #612954. Onset is often in childhood and severe, with early cardiomyopathy. It can also affect breathing muscles, the spine and heart rhythm.
MFM5 is one of several types of Myofibrillar Myopathy, caused by heterozygous mutations in FLNC (filamin C), OMIM #609524
Onset: 4th-5th decade, proximal leg weakness spreading to distal/upper limbs, sometimes with cardiac or respiratory involvement.
www.omim.org/entry/609524
Onset: 4th-5th decade, proximal leg weakness spreading to distal/upper limbs, sometimes with cardiac or respiratory involvement.
www.omim.org/entry/609524
https://www.omim.org/entry/609524
www.omim.org
September 1, 2026 at 6:32 PM
MFM5 is one of several types of Myofibrillar Myopathy, caused by heterozygous mutations in FLNC (filamin C), OMIM #609524
Onset: 4th-5th decade, proximal leg weakness spreading to distal/upper limbs, sometimes with cardiac or respiratory involvement.
www.omim.org/entry/609524
Onset: 4th-5th decade, proximal leg weakness spreading to distal/upper limbs, sometimes with cardiac or respiratory involvement.
www.omim.org/entry/609524
What counts as rare vs ultra-rare?
EU: rare = fewer than 1 in 2,000; ultra-rare = approximately fewer than 1 in 50,000
US: rare = fewer than 200,000 people; ultra-rare = roughly 7,000 or fewer
MFM13 is ultra-rare.
Rare ≠ invisible.
Let's raise awareness
EU: rare = fewer than 1 in 2,000; ultra-rare = approximately fewer than 1 in 50,000
US: rare = fewer than 200,000 people; ultra-rare = roughly 7,000 or fewer
MFM13 is ultra-rare.
Rare ≠ invisible.
Let's raise awareness
August 26, 2026 at 5:02 PM
What counts as rare vs ultra-rare?
EU: rare = fewer than 1 in 2,000; ultra-rare = approximately fewer than 1 in 50,000
US: rare = fewer than 200,000 people; ultra-rare = roughly 7,000 or fewer
MFM13 is ultra-rare.
Rare ≠ invisible.
Let's raise awareness
EU: rare = fewer than 1 in 2,000; ultra-rare = approximately fewer than 1 in 50,000
US: rare = fewer than 200,000 people; ultra-rare = roughly 7,000 or fewer
MFM13 is ultra-rare.
Rare ≠ invisible.
Let's raise awareness
Are you new to CureMFM13 and want to learn more about Myofibrillar Myopathy Type 13 with Rimmed Vacuoles?
This year we published the first review on MFM13 (Zhou et al., 2026).
Read the full text here: buff.ly/yBluaDy
If you don't have access to full publication, please reach out to us!
This year we published the first review on MFM13 (Zhou et al., 2026).
Read the full text here: buff.ly/yBluaDy
If you don't have access to full publication, please reach out to us!
August 20, 2026 at 5:02 PM
Are you new to CureMFM13 and want to learn more about Myofibrillar Myopathy Type 13 with Rimmed Vacuoles?
This year we published the first review on MFM13 (Zhou et al., 2026).
Read the full text here: buff.ly/yBluaDy
If you don't have access to full publication, please reach out to us!
This year we published the first review on MFM13 (Zhou et al., 2026).
Read the full text here: buff.ly/yBluaDy
If you don't have access to full publication, please reach out to us!
In June we launched a new Patient Registry with RARE-X for the Cure MFM13 community. MFM13 is ultra-rare - every patient enrolled helps us learn more about the disease. 6 enrolled so far, from North America, Europe and Australia.
Learn more here: www.curemfm13.org/for-families...
Learn more here: www.curemfm13.org/for-families...
Join The Registry | For Families | Cure MFM13
Join the MFM13 patient registry to advance research and treatment development. Your data helps researchers understand disease progression. Register today.
www.curemfm13.org
August 18, 2026 at 5:01 PM
In June we launched a new Patient Registry with RARE-X for the Cure MFM13 community. MFM13 is ultra-rare - every patient enrolled helps us learn more about the disease. 6 enrolled so far, from North America, Europe and Australia.
Learn more here: www.curemfm13.org/for-families...
Learn more here: www.curemfm13.org/for-families...
The ENMC workshop (30 Oct - 1 Nov) will shape how Myofibrillar Myopathy is diagnosed & named.
Patients are represented, incl. Cure MFM13's Todd King. Add your voice: take the short anonymous survey & share 💙 ec.europa.eu/eusurvey/run...
Patients are represented, incl. Cure MFM13's Todd King. Add your voice: take the short anonymous survey & share 💙 ec.europa.eu/eusurvey/run...
MFM survey
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ec.europa.eu
August 17, 2026 at 5:59 PM
The ENMC workshop (30 Oct - 1 Nov) will shape how Myofibrillar Myopathy is diagnosed & named.
Patients are represented, incl. Cure MFM13's Todd King. Add your voice: take the short anonymous survey & share 💙 ec.europa.eu/eusurvey/run...
Patients are represented, incl. Cure MFM13's Todd King. Add your voice: take the short anonymous survey & share 💙 ec.europa.eu/eusurvey/run...
MFM4 is one of several types of Myofibrillar Myopathy, caused by heterozygous mutations in LDB3/ZASP, OMIM #609452 buff.ly/b7vNP3Q
Onset: usually the 40s, gait trouble from lower-leg weakness spreading to hands and proximal muscles; cardiac involvement in some patients.
Onset: usually the 40s, gait trouble from lower-leg weakness spreading to hands and proximal muscles; cardiac involvement in some patients.
August 12, 2026 at 5:02 PM
MFM4 is one of several types of Myofibrillar Myopathy, caused by heterozygous mutations in LDB3/ZASP, OMIM #609452 buff.ly/b7vNP3Q
Onset: usually the 40s, gait trouble from lower-leg weakness spreading to hands and proximal muscles; cardiac involvement in some patients.
Onset: usually the 40s, gait trouble from lower-leg weakness spreading to hands and proximal muscles; cardiac involvement in some patients.
New preprint: Pathak et al. (2026, bioRxiv) show that allele-specific AAV9-RNAi silencing mutant LDB3 both prevents and reverses myofibrillar myopathy in mice, restoring CASA function (BAG3/HSPA8) and PKCα signaling.
👉️
👉️
AAV-Delivered RNAi Targeting Mutant LDB3 Prevents and Reverses Myofibrillar Myopathy through Mechanosignaling Restoration
The autosomal dominant p.Ala165Val mutation in LIM Domain Binding Protein 3 (LDB3) causes myofibrillar myopathy marked by Z-disc disruption, accumulation of filamin-C (FLNc) and chaperone proteins,…
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August 6, 2026 at 5:04 PM
New preprint: Pathak et al. (2026, bioRxiv) show that allele-specific AAV9-RNAi silencing mutant LDB3 both prevents and reverses myofibrillar myopathy in mice, restoring CASA function (BAG3/HSPA8) and PKCα signaling.
👉️
👉️
Earlier this year, Sylwia, Research Program Manager at Cure MFM13, joined the Beacon for Rare Diseases Patient Group Mentoring Program 2026-27.
We are excited to share that Sylwia has been paired with Dilyana Tosheva, who brings over a decade of experience in Regulatory Affairs of human medicines.
We are excited to share that Sylwia has been paired with Dilyana Tosheva, who brings over a decade of experience in Regulatory Affairs of human medicines.
August 3, 2026 at 5:03 PM
Earlier this year, Sylwia, Research Program Manager at Cure MFM13, joined the Beacon for Rare Diseases Patient Group Mentoring Program 2026-27.
We are excited to share that Sylwia has been paired with Dilyana Tosheva, who brings over a decade of experience in Regulatory Affairs of human medicines.
We are excited to share that Sylwia has been paired with Dilyana Tosheva, who brings over a decade of experience in Regulatory Affairs of human medicines.
Cure MFM13 is building the first humanized mouse model of MFM13 - with IIMCB Warsaw & Czech Centre for Phenogenomics Prague.
First model to carry the exact patient mutation with humanized C-terminal.
To see more detail, check out our website: buff.ly/nbUy4oJ
First model to carry the exact patient mutation with humanized C-terminal.
To see more detail, check out our website: buff.ly/nbUy4oJ
July 29, 2026 at 5:04 PM
Cure MFM13 is building the first humanized mouse model of MFM13 - with IIMCB Warsaw & Czech Centre for Phenogenomics Prague.
First model to carry the exact patient mutation with humanized C-terminal.
To see more detail, check out our website: buff.ly/nbUy4oJ
First model to carry the exact patient mutation with humanized C-terminal.
To see more detail, check out our website: buff.ly/nbUy4oJ
Did you know the protein behind MFM13 goes by many names?
HSPB8 is a member of the small heat shock protein (sHSP) family and is also known as HSP22, H11 kinase, or protein kinase H11
HSPB8 is a member of the small heat shock protein (sHSP) family and is also known as HSP22, H11 kinase, or protein kinase H11
July 24, 2026 at 5:02 PM
Did you know the protein behind MFM13 goes by many names?
HSPB8 is a member of the small heat shock protein (sHSP) family and is also known as HSP22, H11 kinase, or protein kinase H11
HSPB8 is a member of the small heat shock protein (sHSP) family and is also known as HSP22, H11 kinase, or protein kinase H11
We are thrilled to share that Cure MFM13 has officially joined EURORDIS - Rare Diseases Europe: the alliance of over 1,000 rare disease patient organizations from 77 countries, working to improve the lives of 30 million people living with rare diseases across Europe.
July 21, 2026 at 5:02 PM
We are thrilled to share that Cure MFM13 has officially joined EURORDIS - Rare Diseases Europe: the alliance of over 1,000 rare disease patient organizations from 77 countries, working to improve the lives of 30 million people living with rare diseases across Europe.
July 14, 2026 at 5:04 PM
First natural history study on msps that includes hspb8-related diseases is now underway – and you can contribute!
📢 New academic initiative aimed at characterizing multisystem proteinopathies
We invite colleagues worldwide who have diagnosed patients with genetic variants in MSP-associated genes to participate in this international collaboration
Find out more: bit.ly/4qjIRkH
We invite colleagues worldwide who have diagnosed patients with genetic variants in MSP-associated genes to participate in this international collaboration
Find out more: bit.ly/4qjIRkH
July 9, 2026 at 2:36 PM
First natural history study on msps that includes hspb8-related diseases is now underway – and you can contribute!
New publication alert: Iannibelli et al. (2025) focused on aggrephagy markers in 52 MFM patients across 5 genetic subtypes.
Check out the full publication here:
Check out the full publication here:
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Myofibrillar Myopathies (MFMs) are a growing group of muscular disorders genetically determined, whose diagnosis is based on histological features as myofibrillar degeneration, Z-disk disorganization...
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July 7, 2026 at 5:02 PM
New publication alert: Iannibelli et al. (2025) focused on aggrephagy markers in 52 MFM patients across 5 genetic subtypes.
Check out the full publication here:
Check out the full publication here:
On June 24, 2026, we hosted a webinar introducing the new Cure MFM13 patient registry through the RARE-X platform and discussing how participation can help advance research and strengthen our community.
How to Join the MFM13 Patient Registry | Webinar with Cure MFM13 & RARE-X
Learn why the MFM13 Patient Registry matters and how you can participate. In this webinar, Cure MFM13 and RARE-X explain how patient data can help accelerate research and future treatment…
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July 1, 2026 at 5:06 PM
On June 24, 2026, we hosted a webinar introducing the new Cure MFM13 patient registry through the RARE-X platform and discussing how participation can help advance research and strengthen our community.
JOIN US TOMORROW FOR OUR WEBINAR ABOUT NEW DATA COLLECTION PROGRAM (PATIENT REGISTRY)!
Register for the webinar
Register for the webinar
Welcome! You are invited to join a meeting: Cure MFM13 and RARE-X - Patient Registry Launch. After registering, you will receive a confirmation email about joining the meeting.
Welcome! You are invited to join a meeting: Cure MFM13 and RARE-X - Patient Registry Launch. After registering, you will receive a confirmation email about joining the meeting.
buff.ly
June 24, 2026 at 5:03 PM
JOIN US TOMORROW FOR OUR WEBINAR ABOUT NEW DATA COLLECTION PROGRAM (PATIENT REGISTRY)!
Register for the webinar
Register for the webinar
🎙️ New Journal Club episode!
We review Putko et al. (2026), who describe two patients with HSPB8 variants and overlapping features of myopathy and distal motor neuropathy. The study expands the clinical and pathological spectrum of HSPB8-associated disease.
🎧 Listen:
We review Putko et al. (2026), who describe two patients with HSPB8 variants and overlapping features of myopathy and distal motor neuropathy. The study expands the clinical and pathological spectrum of HSPB8-associated disease.
🎧 Listen:
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June 18, 2026 at 5:04 PM
🎙️ New Journal Club episode!
We review Putko et al. (2026), who describe two patients with HSPB8 variants and overlapping features of myopathy and distal motor neuropathy. The study expands the clinical and pathological spectrum of HSPB8-associated disease.
🎧 Listen:
We review Putko et al. (2026), who describe two patients with HSPB8 variants and overlapping features of myopathy and distal motor neuropathy. The study expands the clinical and pathological spectrum of HSPB8-associated disease.
🎧 Listen:
Our Scientific Advisor, Matt McLeod, attended the World Orphan Drug Congress (#WODC) in Boston on June 9–11.
The conference offered valuable insights across advocacy, operational, and technical topics, while providing opportunities to connect with leaders from across the rare disease community.
The conference offered valuable insights across advocacy, operational, and technical topics, while providing opportunities to connect with leaders from across the rare disease community.
June 16, 2026 at 5:05 PM
Our Scientific Advisor, Matt McLeod, attended the World Orphan Drug Congress (#WODC) in Boston on June 9–11.
The conference offered valuable insights across advocacy, operational, and technical topics, while providing opportunities to connect with leaders from across the rare disease community.
The conference offered valuable insights across advocacy, operational, and technical topics, while providing opportunities to connect with leaders from across the rare disease community.
Lei et al. recently published a study exploring how non-coding RNAs regulate HSPB8 expression and influence neuroprotection after cerebral infarction (stroke).
Check out full article
Check out full article
The Molecular Mechanism of LncRNA LUCAT1 Regulating HSPB8 Expression via miR-337-3p in Modulating Neurological Damage After Cerebral Infarction - Neurochemical Research
This study aims to investigate the role of the lncRNA LUCAT1 in cerebral infarction-induced neurological damage. In vitro experiments employed N2a cells to establish an OGD/R model, while in vivo…
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June 11, 2026 at 5:05 PM
Lei et al. recently published a study exploring how non-coding RNAs regulate HSPB8 expression and influence neuroprotection after cerebral infarction (stroke).
Check out full article
Check out full article
Together with RARE-X, a program of Global Genes we are launching new data collection program for patients with MFM13!
Why this is so important ? Check out RARE-X YouTube video.
buff.ly/BYemtz4
Register buff.ly/UBu75XW for the webinar.
Why this is so important ? Check out RARE-X YouTube video.
buff.ly/BYemtz4
Register buff.ly/UBu75XW for the webinar.
June 8, 2026 at 5:03 PM
Together with RARE-X, a program of Global Genes we are launching new data collection program for patients with MFM13!
Why this is so important ? Check out RARE-X YouTube video.
buff.ly/BYemtz4
Register buff.ly/UBu75XW for the webinar.
Why this is so important ? Check out RARE-X YouTube video.
buff.ly/BYemtz4
Register buff.ly/UBu75XW for the webinar.
New publication
Ozes et al. (2026) showed that BAG3 gene therapy reduced protein aggregates and improved muscle function in a mouse model of MFM3 (myotilinopathy), supporting autophagy enhancement as a potential therapeutic strategy.
Ozes et al. (2026) showed that BAG3 gene therapy reduced protein aggregates and improved muscle function in a mouse model of MFM3 (myotilinopathy), supporting autophagy enhancement as a potential therapeutic strategy.
Autophagy activation via BAG3 gene therapy improves phenotype in a mouse model of LGMD1A
Myofibrillar myopathies (MFMs) are a group of protein aggregate diseases characterized by abnormal protein aggregations and myofibrillar disintegration. Myotilinopathy, also named MFM3 or limb-girdle…
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June 3, 2026 at 5:01 PM
New publication
Ozes et al. (2026) showed that BAG3 gene therapy reduced protein aggregates and improved muscle function in a mouse model of MFM3 (myotilinopathy), supporting autophagy enhancement as a potential therapeutic strategy.
Ozes et al. (2026) showed that BAG3 gene therapy reduced protein aggregates and improved muscle function in a mouse model of MFM3 (myotilinopathy), supporting autophagy enhancement as a potential therapeutic strategy.
Wannarong et al., recently published new natural history article, where they evaluated patients at MyoClinic with either pathologically confirmed MFM or myopathies associated with MFM-related genes.
Check out full article here: buff.ly/NhsDAuX
Check out full article here: buff.ly/NhsDAuX
May 28, 2026 at 5:01 PM
Wannarong et al., recently published new natural history article, where they evaluated patients at MyoClinic with either pathologically confirmed MFM or myopathies associated with MFM-related genes.
Check out full article here: buff.ly/NhsDAuX
Check out full article here: buff.ly/NhsDAuX