Neuromuscular Disease Center

Quarterly Update

Celebrating Spring/ Summer

As we embrace the warmth and vibrancy of spring and summer, we in NMD are excited to connect with our community and share our ongoing commitment to supporting patients and families during this dynamic season. Our dedication to advancing research and treatments for neuromuscular disorders remains unwavering, reflecting our mission to provide innovative, effective solutions. We are thrilled to celebrate recent successes within our Neuromuscular Disease Center clinics, where compassionate care and groundbreaking advancements come together to enhance the lives of those we serve.

Palmesano Strong Golf Tournament - Created by the Palmesano Family in Honor of Mick Palmesano

This year’s Palmesano Strong Golf Tournament raised an incredible $7,500 to support ALS care and research at URMC. From the first tee to the dinner celebration, the event reflected a community rich in dedication and strength—determined to make a difference.

Dr. Peter Creigh, Dr. Johanna Hamel, and Cindy Gibson, NP from NMD attended this wonderful annual event, as well as James O'Brien and Austin Albanese from URMC Advancement.

Staff Spotlight

In NMD, our exceptional EMG technicians stand as the backbone of our commitment to diagnosing neuromuscular disorders with unparalleled precision and care. Each day, these compassionate professionals work tirelessly, often forming meaningful connections with patients, ensuring they feel supported and understood throughout their diagnostic journey. Patients and healthcare professionals alike share heartfelt testimonials that highlight the EMG team’s unwavering professionalism and empathy, showcasing how their work directly contributes to transformative health experiences. As integral members of our multidisciplinary team, NMD's EMG technicians play a vital role in our comprehensive approach to patient care, collaborating seamlessly with physicians and specialists to create a compassionate atmosphere. Together, we celebrate the small victories and significant advancements in Neuromuscular care.

Michele Ferguson is the supervisor to Daniela Aguilar, Sherry Estes, Gordon Hurlburt, Adriana Marino, Jamal Martin, and Erin Wolfanger.

NMD Clinical News

We are thrilled to welcome Carley Thomas, FNP, to our team in NMD! With her enthusiasm and dedication to enhancing patient care, Carley is set to make a significant impact on our community. Working alongside a multidisciplinary team of experts, Carley will ensure our patients receive the highest level of care. Welcome Carley!

Richard T. Moxley, III

Rare Disease Lectureship

This year’s Richard T. Moxley, III Rare Disease Lectureship was especially powerful. The Neuromuscular Division proudly hosted the 8th annual event—an occasion that not only honored the lasting legacy of Dr. Richard Moxley, but also celebrated the extraordinary contributions of Dr. Emma Ciafaloni.

Dr. Ciafaloni’s lecture was a heartfelt tribute to the Neuromuscular team she helped build and lead, as well as a reflection on her greatest passion—newborn screening and her lifelong dedication to advancing research and improving care for patients with Duchenne muscular dystrophy.

Watch the recording here.

And in Research

New Research Awards and Awardees

Emma Ciafaloni - Clinical Trial sponsored by Insmed Inc. - Investigating the safety and biodistribution of a single intrathecal injection of INS1201 in Ambulatory Males with Duchenne Muscular Dystrophy (The ASCEND Study)

Peter Creigh - Clinical Trial sponsored by Massachusetts General Hospital - HEALEY ALS Platform Trial - Platform Level Site Support

Johanna Hamel - Research Study sponsored by the Muscular Dystrophy Association - Advanced analysis of remote assessments

Johanna Hamel - Clinical Trial sponsored by Avidity Biosciences Inc. - A randomized, double-blind, placebo-controlled, Phase 3 study to evaluate the efficacy and safety of intravenous AOC 1020 for the treatment of Facioscapulohumeral Muscular Dystrophy (FSHD)

David Herrmann - Research Study sponsored by the Charcot-Marie-Tooth Association - The Inherited Neuropathy Consortium (INC) RDCRC-CT Readiness

Bo Hoon Lee - Clinical Trial sponsored by the University of Kansas Medical Center - Motor Outcomes to Validate Evaluations in FSHD - MOVE plus peds pilot study

Bo Hoon Lee - Baby Duchenne Project grant - sponsored by the Department of Defense

Sam Mackenzie - Clinical Neuromuscular Fellowship position sponsored by Sarepta Therapeutics

Tyler Rehbein - Research Study sponsored by the University of Kansas Medical Centr - Motor Outcomes to Validate Evaluations in FSHD (MOVE) Plus MRI and Biomarker Discovery/Validation (MOVE+)

Newborn Screening Expansion Sparks Research on Early Duchenne Intervention

New Therapies are transforming care for childhood muscular dystrophies by slowing disease progression. However, many of these advances are most effective when initiated early in life, often before symptoms even appear.

Read more about a new study led by Bo Lee, MD and funded by the Department of Defense by clicking below.