Category Archives: FSHD Research

Intriguing research on tyrosine kinase inhibition as a potential therapy for FSHD: Sunitinib rescues muscle cells’ ability to develop

Written by Jim Albert
Eldersburg, Maryland

 

A cancer drug has been shown to potentially rescue some of the damaging effects of DUX4, the gene implicated in FSH muscular dystrophy. The laboratory of Peter Zammit, PhD, Randall Division of Cell and Molecular Biophysics, King’s College London, United Kingdom, in collaboration with Robert Knight, PhD, of the Department of Craniofacial Development and Stem Cell Biology at King’s, has published the results of its research on the activity of an FDA-approved drug, sunitinib, as having potential therapeutic activity for FSH muscular dystrophy (FSHD). Continue reading

FSH Society Awards $541,133 in Funding for FSH Muscular Dystrophy Research

Boston-based Non-profit Awards New Grants to Facilitate Search for a Cure

BOSTON – April 5, 2017 – Today the FSH Society, a world leader in combating facioscapulohumeral muscular dystrophy (FSHD), announced it has committed $541,133 in funding to five research projects that aim to break new ground in the search for a treatment and cure for FSHD. These grants follow the Society’s record breaking $1.36 million awarded in total research funding in 2016.

“These grants are a testament to the dedication of researchers within the FSHD community committed to understanding and solving how FSHD works through high quality peer-reviewed research” said Daniel Perez, President and CEO of the FSH Society. “With these grants we look to build upon our record-breaking success in 2016, which would not have been possible without the generosity and sustained support of donors, Society management and staff, our Board members and volunteers.”

The following proposals submitted in August 2016 were approved: Continue reading

Update on Clinical Trial A083-02: a Phase 2 Clinical Study of ACE-083 in FSHD

The FSH Society has a long history of partnering with biotech and pharmaceutical companies to facilitate recruitment of patients and families for focus groups, provide patient input to clinical outcome measures, and participation in clinical trials. The Society also assists companies by providing connections, insights and scientific information in the research, therapeutic and clinical areas. For the ongoing trial of ACE-083, the FSH Society has worked with the drug’s developer, Acceleron Pharma, to better understand how FSHD affects patients through a survey (see story here) as well as to educate patients about the process of enrolling in the clinical trial. In response to the high degree of interest in the ACE-083 trial, Acceleron has worked with the FSH Society to provide the following update and FAQ. We thank Acceleron for the company’s commitment to patient education. Continue reading

FSHD patient survey results presented at MDA Conference

At the Muscular Dystrophy Association’s biennial scientific conference, held in Washington, DC, on March 19-22, 2017, researchers from Acceleron Pharma presented a poster about the most prominent symptoms and daily life impact of FSH muscular dystrophy, as reported by patients and caregivers. The report was based on results from a survey developed by Acceleron in collaboration with Dr. Jeffrey Statland of the University of Kansas Medical Center and June Kinoshita from the FSH Society. Researchers at aTyr Pharma also contributed comments on the survey design. Continue reading

Q &A on potential use of BET inhibitors for FSHD

On February 13, Canadian biotech, Reserverlogix announced that facioscapulohumeral muscular dystrophy (FSHD) is one of two new indications it is pursuing involving its lead drug, apabetalone (RVX-208) which inhibits bromodomain and extra-terminal (BET) epigenetic readers.  It mentioned research conducted at Saint Louis University demonstrating apabetalone mediated modulation of important targets in FSHD.  The FSH Society funded seminal seed-funds to Dr. Fran Sverdrup at Saint Louis University starting in 2014 to conduct pilot research to study BET proteins as therapeutic targets in FSHD.  It is still early days with respect to this research.  Dr. Fran Sverdrup in response to inquiries he has received following the Resverlogix press release, along with the desire to start managing patient expectations about the status of BET inhibitors as a potential therapy for FSHD and research required to validate a candidate drug as an effective treatment, has put together the following Q&A to inform our readers about the status of BET inhibitors.

What are BET inhibitors?  BET inhibitors are a class of drugs with anti-inflammatory and anti-cancer properties. Although no BET inhibitors are yet approved for use in the US or internationally, there are several clinical trials ongoing in the areas of cancer and cardiovascular disease. These drugs bind to and inhibit Bromodomain and Extra-Terminal motif (BET) proteins BRD2, BRD3, BRD4, and BRDT. Since BET proteins generally bind to active or “open” chromatin and turn on nearby genes, BET inhibitors act to suppress (turn off) genes that are over-expressed in disease settings. Continue reading

Johns Hopkins Studies

Johns Hopkins and the Kennedy Krieger Institute are currently recruiting for two studies!  Volunteering for studies like this helps provide researchers with the information they need to provide better treatments, understand the mechanisms of the disease, and search for a cure.

For Family Members (no travel necessary!):

The Johns Hopkins Hospital and the Kennedy Krieger Institute are looking for first-degree relatives of FSHD patients ages 35 and older who do not currently show symptoms.  Volunteers will be asked to give a blood draw, which can be performed at any local lab.  The blood draw, the genetic test, and shipping will be covered by the study.

Interested individuals should contact Pegah Dehghan: dehghan@kennedykrieger.org.

Study Protocol Number: NA-00019985. 

For Patients: Continue reading

Imaging study shows positive effects of exercise and CBT on muscle degeneration

In 2014, a Dutch team reported that aerobic exercise training (AET) and cognitive behavioral therapy (CBT) decreased fatigue and improved the quality of life significantly in FSHD patients. Now, the same group has published a study demonstrating that not only did patients given AET or CBT feel more energized and active, but that their muscles degenerated more slowly than in patients who received standard care.

Strikingly, the effect was largest in the CBT group. CBT often focuses on how your thoughts can influence your behaviors and the choices you make. It is often used to treat patients with chronic illness to improve their functioning in their daily life. Continue reading

Consensus Reached to Move Forward with Formation of International Global FSHD Patient Registry

Newly Formed Facioscapulohumeral Muscular Dystrophy Consortium Aims to Consolidate More than 13 Patient Registries in Effort to Accelerate Research on Rare Disease

BOSTON – (February 22, 2017) – Today the FSH Society, a world leader in combating facioscapulohumeral muscular dystrophy (FSHD), announced that with the FSHD Champions, an international alliance of FSHD patient advocacy organizations, a consensus has been reached to move forward with the vision of an international global FSHD patient registry. The goals of the registry will be to accelerate research to understand and treat FSHD, and empower patients to gain insights from the data about their condition and improve their health and quality of life. Continue reading

Donated patient tissue is helping to advance research

First report from the FSH Society’s tissue donation registry

by Kelly Jackson, Fulcrum Therapeutics, Cambridge, Massachusetts

At Fulcrum Therapeutics, human tissue serves as one of the most basic yet essential tools available to help in efforts to develop new medicines to treat FSHD and other genetic diseases.

Human biospecimens have long served as a foundation for the development of precision medicines. By deeply analyzing human tissue at the cellular level, researchers gain indispensable insights into how a disease progresses, which may open the door to new treatment strategies. These insights also enable the development of personalized molecular tools that are used to evaluate the safety and efficacy of novel therapeutics as they move through human clinical trials. Continue reading

Promising FSHD mouse model from Harper lab

Video caption: These mice are siblings and genetically identical. In the one on the right, we turned DUX4 “on”, while in the one on the left, the DUX4 gene remained “off”. FSHD mice have a slow and unsteady gait caused by weakened muscles. You may also notice a hunched back, which is also a sign of muscles being too weak to support the skeleton properly. We are using these animals to test therapies that inhibit DUX4. Credit to Carlee Giesige, a PhD student in the lab, for the video and for characterizing these mice.

by Scott Harper, PhD, Columbus, Ohio

Mouse models of disease are important tools for developing therapies. During the past decade or so, several attempts have been made to generate FSHD mouse models that express the DUX4 gene in their chromosomes.

Although these models were designed logically, the animals were difficult to produce, and they did not show the muscle weakness and damage seen in humans. These first models also suggested that it was difficult to make mice expressing human DUX4, because the gene was toxic and incompatible with normal mouse development.

We concluded that if we wanted to make a DUX4 mouse, we would have to tightly control when and where it could be turned “on,” and began working to generate a new FSHD mouse model in 2009. After many difficulties, we finally successfully produced a model in which DUX4 could be turned on only in muscles. Continue reading