UF Health Center of Pediatric Neuromuscular and Rare Diseases

The UF Health Center of Pediatric Neuromuscular and Rare Diseases is founded on the philosophy that integrated, interdisciplinary care is the most effective approach for patients with neuromuscular and orphan diseases.

The center coordinates and provides patient care, led by leading specialists from diverse medical backgrounds, in one centralized location. Today, the center consists of a collaborative effort of specialists with backgrounds in cardiology, general pediatrics, neurology, pulmonary and occupational and physical therapies.

The UF Health Center of Pediatric Neuromuscular and Rare Diseases provides patient-centric care, allowing patients to interact with all necessary medical providers in one location. This care model is designed to address as many aspects of a patient’s medical needs in a single visit. Established in 2010 as a partner with the Muscular Dystrophy Association, the center operates weekly in the UF Health Medical Plaza building located in Gainesville, Florida.

About Us

The UF Health Center of Pediatric Neuromuscular and Rare Diseases is a collaborative effort between two colleges and seven divisions or departments at the University of Florida. Five providers have formed a clinical care group to coordinate care for patients with neuromuscular and orphan diseases in need of multidisciplinary care at a single site of service. Clinical services are enhanced by leading research in the field of pediatric neuromuscular diseases, including muscular dystrophy and pompe disease.

Referrals to the center come from the UF Health system and the surrounding communities, as well as directly from the Muscular Dystrophy Association office located in Jacksonville, Florida.

Any patient who has a neuromuscular disease and would benefit from interdisciplinary care is welcomed into the center. We welcome patients from all over the southeastern United States.

Our Staff

When you are a patient at our clinic, our multidisciplinary team works together to offer quality care for all of our patients.

• Kara Godwin, ARNP – Care Coordinator
• Nikki Atzinger – Clinical Assistant
• Ian Debus – Clinical Assistant
• Jena Lammers – Physical Therapist
• Bobby Ross – Program Assistant
• Tina Cousins – ECHO Tech
• Patty Helsel – Occupational Therapist
• Kimberly Brown – Social Worker

Research

Finding better ways to treat patients with Neuromuscular and Orphan Diseases is a major goal for the center. Research is ongoing and, to date, has focused on:

• Understanding the pathophysiology of inherited cardioskeletal myopathies and therapeutic strategies using gene therapy
• Characterization of gene mutation in inherited neurological diseases
• Muscle rehabilitation and magnetic resonance imaging
• Examine the impact of glycogen accumulation in the brain and spinal cord on the neural control of the respiratory muscles
• Development of translational noninvasive imaging techniques for clinical applications

News

• UF Health patient first to receive new gene therapy for neuromuscular disease since FDA approval - Two researchers associated with UF Health, the university’s academic health center — Nicholas Muzyczka, Ph.D., and Kenneth Berns, M.D., Ph.D. — performed groundbreaking work in the 1980s on adeno-associated virus, or AAV, that made Londyn’s treatment possible, said Barry J. Byrne, M.D., Ph.D., who led Londyn’s treatment team.
• First Commercial Duchenne Muscular Dystrophy Therapy in US Administered at UF Health - The therapy, approved just last week, called Exondys 51 was given to a 9-year-old patient from Jacksonville at the infusion center at UF Health Shands Children’s Hospital. The drug is administered via weekly infusions and is considered to be personalized medicine because it is targeted at a specific genetic mutation. Around 13 percent of Duchenne patients worldwide are affected by the specific mutation addressed by this therapy.
• UF doctors among first to administer therapy for rare disease

Links and Resources

• Muscular Dystrophy Association (MDA): The MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.
• The Duchenne Connect website
• Know Your Duchenne
• Parent Project for Muscular Dystrophy (PPMD): Parent Project Muscular Dystrophy (PPMD) fights to end Duchenne. We accelerate research, raise our voices to impact policy, demand optimal care for every single family, and strive to ensure access to approved therapies. https://www.parentprojectmd.org/
• Treat-NMD: "TREAT-NMD is a network for the neuromuscular field that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible. Since its launch in January 2007 the network's focus has been on the development of tools that industry, clinicians and scientists need to bring novel therapeutic approaches through preclinical development and into the clinic, and on establishing best-practice care for neuromuscular patients worldwide." http://www.treat-nmd.eu/
• World Duchenne Organization (WDO): World Duchenne Organization is dedicated to finding a cure and viable treatments for Duchenne, to promoting good standards of care, and to educating parents around the globe. There is a compelling need to ensure that wherever they are in the world, the people living with Duchenne can benefit from a standard of care that is informed by the best clinical practices from all over the world. It is equally important that the information available to parents is up-to-date and based on the latest research. https://worldduchenne.org/
• Jett Foundation: Our mission at Jett Foundation is to extend and enrich the lives of individuals affected by Duchenne muscular dystrophy and other neuromuscular disorders. We fulfill this mission by partnering with individuals and families through empowering educational programming, transformational direct service experiences, and by accelerating development of life-changing treatments. https://www.jettfoundation.org/
• Little Hercules Foundation: Little Hercules Foundation is a registered, non-profit 501(c)(3) organization based in Dublin, Ohio. Little Hercules Foundation got its start in January 2013 when three moms, two of whom had sons diagnosed with Duchenne Muscular Dystrophy, decided to host events to help fund research. Since then, Little Hercules Foundation has grown into much more. We focus on improving the lives of those diagnosed with Duchenne Muscular Dystrophy through four main pillars: Advocacy, Awareness, Family Assistance and Funding Research. https://littleherculesfoundation.org/about/the-foundation/
• Walking Strong: Our mission is to build a supportive community to help us end Duchenne Muscular Dystrophy by raising money for ground-breaking research, spreading awareness, and providing aid to children and families with Duchenne. https://walkingstrong.org/

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