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   Winter 2021 - Special Edition
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Researchers from all over the world gathered in Richmond, VA in October. We had the first ever combined Investigator Meeting of Limb-Girdle Muscular Dystrophy, Myotonic Dystrophy, and Facioscapulohumeral Muscular Dystrophy.

Representatives from laboratories, patient advocacy groups, and pharmaceutical companies were also in attendance and gave presentations on muscular dystrophy research. It was a terrific opportunity to discuss ideas that can benefit patients.

We presented a preliminary analysis of the 12-month data from the ReSolve FSHD Study. Below is a summary of these data.
"I want to thank the FSHD CTRN investigators for coming to Richmond for the annual meeting.  It was great to see so many interactions between the different muscular dystrophy networks.  I am excited by the synergies we are creating to advance therapies across these disorders." 

-Dr. Nicholas Johnson
Principal Investigator, Virginia Commonwealth University
When complete, the ReSolve FSHD Study will have enrolled 320 subjects in 11 US and 6 European sites. It will be the largest FSHD study ever. 

The ReSolve FSHD Study has also created the largest collection of samples. These samples can be used for testing potential biomarkers. Biomarkers can be used for disease detection, monitor disease progression, and provide potential targets for treatment.
“It was great to be able to get together to share the progress of the ReSolve study. Lots of exciting work! We truly appreciate the dedication of the participants and study sites, especially during this challenging time. We look forward to participants completing their last study visits as these data are important to our understanding of how strength and function change over time in individuals with FSHD.”

-Dr. Kate Eichinger
Lead CTRN Clinical Evaluator
Clinical Outcomes Assessments

The FSHD Composite Outcome Measure, performed by the Clinical Evaluators, is showing evidence of reliable change in disease progression.

There is also evidence of a relationship between disease severity and strength.

Overall strength is important for functionality.

We still need to learn which combination of outcomes are going to be most useful in clinical trials.
“After prolonged travel restrictions, it was exciting to see firsthand the progress the FSHD CTRN investigators have made with the ReSolve Study to further validate critical outcome measures needed in clinical trials. Another highlight of the two day meeting was the combined session with the Myotonic Dystrophy Clinical Research Network (DMCRN), which served to promote exchange of ideas between these related indications. Cross-disciplinary approaches in the rare disease space are instrumental for accelerating therapeutic development and I applaud the organizers for embracing this for FSHD and DM1.”

-Dr. Jamshid Arjomand
Chief Science Officer, FSHD Society
Analysis of Pain
  • The lower back/hips were the most reported locations of pain in patients with FSHD
  • Majority of patients treat pain with NSAIDs and stretching
  • Females report more sensory pain
  • There is no correlation between pain and disease severity (i.e., if you have more severe disease, it does not mean you have more pain)
    • This is seen in other studies
"Friends of FSH Research is proud to help support the FSHD Clinical Network! Listening to the presentations gives us great hope that we are on the right track towards an effective clinical program for future drug trials and for real therapies for those impacted by FSHD. One of the highlights for us was hearing about the wide global reach of the Jones' laboratory spit test.  The possibility of having such a simple inexpensive genetic FSHD test available to everyone, which could eventually be acceptable for clinical trials & treatment, would dramatically change one of the major roadblocks to participation in these trials."

-Terry Colella
President of Friends of FSH Research
Fall Diaries
  • More than half of the participants reported falls and difficulty with balance
  • So far, the data show no difference in age or gender between non-fallers, infrequent fallers, and recurrent fallers
  • Recurrent fallers had an earlier age of onset of FSHD symptoms and higher motor function impairment
  • Infrequent fallers were weaker in upper leg muscles than non-fallers
Methylation Genetic Testing
  • Methylation is when a chemical compound, called a methyl group (CH3), binds to the DNA. The more methyl groups that bind to the DNA, the less likely the DNA can be transcribed (read) so the gene is turned off. The gene is turned off in individuals without FSHD. When there is less methylation, the DNA can be transcribed (read) and the gene is turned on, causing FSHD.
  • The amount of methylation one person has can affect their FSHD symptoms and their severity, and can correlate with age of onset
  • The less methylation a person has, the more severe disease they should have. However, there are always exceptions.

IOWA Oral Pressure Instrument (IOPI)
  • The data were reliable, especially in strength and endurance measurements
  • Number of FSHD repeats and disease severity do not seem to be related to lip strength and endurance
Reachable Workspace
  • Data being obtained in the ReSolve Study are similar to other published data about Reachable Workspace, showing the data are reliable
Electrical Impedance Myography (EIM)
  • Affected muscles show bigger resistance and bigger voltage. Reduction in timing can also suggest disease.
  • No change in strength over time was seen at 12 months. The 24-month data will be important to determine if we can see change in strength using this method.
  • We need to explore if EIM can be a predictive biomarker for disease progression

We are excited to complete all the 24 month visits so we can look at the final data!

Finished ReSolve and want to move on to a new study?

Join our MOVE FSHD Study!

The CTRN is enrolling participants for a new study, Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD). It aims to:
  • Hasten drug development for FSHD
  • Improve care delivery by creating a standard protocol that will help predict outcomes such as the need for orthotics, ambulation aides, and respiratory support.

We will recruit 450 participants with FSHD. Visits are designed to occur in conjunction with your normal clinical visits, about once or twice a year. You will be followed over the course of 3 years. Assessments may be done remotely during the COVID-19 period.

Who is eligible? Anyone with FSHD! If you do not have genetic confirmation, you can still participate, but you have to at least have a family member who is also affected. You do not need to be ambulatory. Children under 18, women who are pregnant or may become pregnant, and those who are currently participating in clinical trials can also participate!

We hope many participants in the ReSolve study enroll in this study so that we can follow you long term.

This study will be collaborating with the Peter Jones Lab, the FSHD Society and Friends of FSH Research.  

If you are interested in participating, please contact your local CTRN site (listed at the end of this newsletter).

Here is also a quick Fact Sheet for more information! 
MOVE+ Sub-study
We will be enrolling 200 of the MOVE FSHD Study subjects for a sub-study, which will include muscle biopsy and MRI. If you are already enrolled in MOVE, you can tell your study coordinator that you are also interested in participating in this sub-study, but it is not required.

Inclusion criteria:
  • Enrolled in MOVE FSHD
  • Between 18-75 years of age
  • Symptomatic limb weakness
  • Able to walk 30 feet without the support of another person (participants are able to use orthotics, walking sticks, and canes)
  • Both TA muscles should have a MMT score of between 2-5 on the MRC scale
  • Lower extremity muscle accessible for needle muscle biopsy (our expectation is that 60% will meet MRI STIR+ criteria)
Exclusion criteria:
  • Unwilling or unable to provide informed consent.
  • Severe cardiac, respiratory, or orthopedic conditions that preclude safe testing of muscle function
  • Use of anticoagulants such as warfarin or novel oral anticoagulants
  • Malignancy with ongoing treatment with chemotherapeutic agents or anabolic agents
  • Use of immunosuppressants including prednisone within 6 months
  • Pregnancy
  • Recent or ongoing infection
  • Presence of contraindication to performance of MRI: pacemaker, metallic foreign body in eye, brain aneurysm clip (unless documented as MRI compatible)
  • Any other medical condition which in the opinion of the investigator would interfere with study participation.
FSHD CTRN Site Contacts 
Kiley Higgs-University of Kansas Medical Center
Study Project Manager
Phone: 913.945.9922
Leann Lewis- University of Rochester Medical Center
Lead Clinical Research Coordinator 
Phone: 585.275.7680

Katie Roath- University of Kansas Medical Center
Clinical Research Coordinator 
Phone:  913.945.9928
Mary Yep- Kennedy Krieger Institute
Clinical Research Coordinator 
Phone: 443.923.7318
Jennifer Huynh- University of California Los Angeles
Clinical Research Coordinator 
Phone: 310.825.3264    
Marco Tellez- The Ohio State University
Clinical Research Coordinator 
Phone: 614.688.7837 
Corrie Moreau- University of Washington
Clinical Research Coordinator 
Phone: 206.685.2028    
Sarah Moldt- University of Utah
Clinical Research Coordinator 
Phone: 801.585.9399
Jodie Howell
-Virginia Commonwealth University
Clinical Research Coordinator
Phone: 804.592.1859
Veronica Stevens- Stanford University 
Clinical Research Coordinator
Phone: 650.725.4341

Osniel Gonzalez Ramos- University of Texas Southwestern
Clinical Research Coordinator
Phone: 214.648.2926 

Hannah Dwight- University of Colorado Denver
Clinical Research Coordinator 

Katiana Fenelon - University of Florida
Clinical Research Coordinator
Phone: 352.733.2436
Thank you for your participation in our research!
The FSHD Clinical Trial Research Network

October 2019
Copyright © 2021 FSHD Clinical Trial Research Network, All rights reserved.

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