“Rare diseases are actually common at Gillette,” says Gillette Children's complex care pediatrician, Arthur Beisang, MD. He’s also the co-director of the Gillette Children’s Rett Syndrome Center of Excellence. Beisang adds, “We’re really set up to manage a lot of health issues that come with rare diseases and we’re able to coordinate excellent care for these children.”
Rare Disease Day is being marked this year on Monday, February 28th. In the United States, a rare disease is defined as a condition that affects fewer than 20,000 people. One in 20 people will live with a rare disease at some point in their life.
Gillette is known worldwide for its expertise in caring for children diagnosed with rare diseases such as spinal muscular atrophy (SMA), acute flaccid myelitis (AFM), Legg-Calve Perthes disease, Prader-Willi syndrome and other conditions. Another disease considered rare is Rett syndrome. Gillette is one of just 15 clinics in the U.S. designated as a Clinical Research Center of Excellence by the International Rett Syndrome Foundation (IRSF).
Rett syndrome is a rare condition that affects the brain’s growth and development. Symptoms typically develop between 6 and 18 months of age. Approximately 1 in 10,000 girls will develop Rett syndrome and 95% of children diagnosed with Rett are girls.
“We are committed to maintaining the high standards of care that define a Center of Excellence,” Beisang says.
Gillette Children’s pediatric neurologist, Tim Feyma, MD, is the co-director of the Gillette Children’s Rett Syndrome Center of Excellence, and says, “We’re proud of this designation. We are a devoted, stable crew that has worked together for over 10 years with some new additions to the team. We have a focused expert efficiency in the interest of the patient and that’s what makes our program different.”
Research is evolving fast
“The research for Rett syndrome is evolving fast,” Feyma says. “Despite being a rare condition, there are many real therapies being developed. There’s hope for gene therapy for young, newly diagnosed Rett patients in the near future.”
Currently, there are three Rett syndrome research studies underway at Gillette. Director of Research, Joyce Trost, says, “This type of medical research is a key part of our mission at Gillette. We have a focus on conducting solid medical research to help improve outcomes and treatments for many rare diseases.”
Rett syndrome is often associated with chronic health conditions that might cause pain or discomfort. Beisang and Feyma are working with clinical scientist, Chantel Burkitt, PhD, to investigate the underlying biology of sensory nerve innervation pathways. It is hoped these studies can help to optimize pain treatment and care for patients who have Rett.
Beisang is a co-investigator in a clinical trial of a drug named Trofinetide (the study, sponsored by pharmaceutical company Neuren, is also called NNZ-2566). Tronfinetide works to stimulate neurons in the brain to grow more connections to each other. Beisang says research has shown that girls who have Rett syndrome don’t have as many connections between their neurons. “We think that’s part of why they have problems with their nervous system,” Beisang says.
Family participation is a key to successful research and clinical trials. “We really owe a debt of gratitude to our patient families and to our collaborators at the University of Minnesota and in the international community,” Feyma adds. “It’s this type of collaboration that can be the perfect model for working on research and care for all rare diseases.”
Driven to push the boundaries
Since its founding in 1897, Gillette has been at the forefront of treating children who have conditions affecting the brain, bones, and movement. Medical research is a key part of Gillette’s mission. Through clinical trials, the Gillette team of clinical scientists works with respected medical institutions around the world to improve outcomes.
Gillette has nine clinical scientists on staff. Research director, Joyce Trost, says it’s a strong team. “We have nine PhDs and all they do is research. These clinical scientists are partnering with the clinicians to do some groundbreaking work.”
Gillette is also trying to find more ways to help families get access to health care. Arthur Beisang, MD, serves on the Chloe Barnes Advisory Council on Rare Diseases (CBACRD) and has helped to design a survey to gather information that will lead to a better understanding of health care access for Minnesota families as they care for a child who has a rare disease. He encourages families and providers to participate in the survey and says, “the results will make care even stronger in Minnesota.”
Feyma, Beisang, and others working to care for patients diagnosed with a rare disease say they’re driven to push the boundaries of research and to help children reach their full potential.
Beisang appreciates his team and says, “The general Gillette attitude is that every patient and family is valued and worthy of excellent care.”