Gillette Children’s is leading the way for new treatments, medications, and therapies to help improve the lives of children diagnosed with rare diseases. This leadership makes Gillette a strong partner for families and primary care providers seeking expert treatment plans for children who have complex and rare medical conditions.

“Rare diseases are actually common at Gillette and we’re exploring exciting new treatments and therapies to really revolutionize rare disease care,” says Gillette complex care pediatrician, Arthur Beisang, MD.

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 care 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. 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).

“It’s a very interesting time because the future of rare disease care is about biological manipulation with DNA and RNA modifications,” Beisang says.

Recent breakthroughs in genome editing, such as CRISPR and other techniques, allows genetic material to be added, removed, or altered at particular locations in the human genome. Genome editing is in its infancy and is still being debated and developed.

“One of the exciting things we’re starting to do at Gillette is to take a look at how we can rapidly improve skills for many rare disease patients once they get therapy,” Beisang says.

“This is a brand-new area and it’s very exciting, because a lot of people around the country are not doing this,” Beisang adds. “With our excellent therapies program, we’re really in a position to enhance learning in this area and become a leader in what I call ‘habilitative care,’ as opposed to rehabilitative care.”

Gillette provides rehabilitative care to help children regain skills and strength. Habilitative care and therapy would help children attain new skills they never possessed such as walking, talking, and muscle control.

Beisang and his colleague, Gillette pediatric neurologist, Tim Feyma, MD, co-direct the Gillette Children’s Rett Center of Excellence. Feyma is the principal investigator working together on trials of a new medication called Trofinetide.  Beisang says, if approved by the FDA, it would be the first therapeutic medication for Rett syndrome.

“Trofinetide helps increase the connections between the neurons and makes the nerves more robust,” Beisang explains. “That will translate into improving the coordination and speaking skills of Rett patients. We’re very excited.”

The Food and Drug Administration (FDA) is scheduled to review the Trofinetide trial in March 2023. Gillette has been involved in the research into Trofinetide from the initial study through the various phases of the drug trial.

Rett syndrome is a rare condition that affects the brain’s growth and development. Symptoms typically develop between 6 and 18 months of age and about 95% of children diagnosed with Rett are girls.

Gillette is one of 18 institutions across the U.S. that is designated as a Center of Excellence by the International Rett Syndrome Foundation (IRSF).

Currently there are no approved treatments for Rett syndrome but Gillette, along with Boston Children’s Hospital and Baylor College of Medicine, is the site of a National Institutes of Health (NIH) natural history study examining Rett patients. This NIH study is continuing to gather biological samples for possible detection of a biomarker for Rett patients.

According to Arthur Beisang, much of this renewed energy to finding new treatments, therapies, and cures for rare diseases come from what he calls “the wonderful patient groups and families.” Gillette has a history of listening to and collaborating with patients, families and referring providers to focus research and innovation.

The extensive Gillette neurology team, including pediatric neurologists, Randal Richardson, MD and Jamie Eskuri, MD, keep Gillette on the leading edge of medical breakthroughs in helping patients with new rare disease treatments.

Richardson is involved in clinical trials for ground-breaking treatments for the muscular disease spinal muscular atrophy (SMA). Gillette was among the limited number of providers involved in the expanded access program to treat patients with SMA Type1 before the FDA officially approved the drug Spinraza ™ in December 2016. Once Spinraza was approved as a treatment, Richardson became a trailblazer to assure that all children in Minnesota are screened for SMA at birth, unless their parents opt out of the newborn screening.

“The fulfilling part of the work we do in neurology,” Eskuri says, “is the emotional and social help we can provide parents and children. One of our main roles is to help families process their ‘new normal’ and to provide the best diagnosis and care plan for a child who has a rare disease.”

“Our patients at Gillette traditionally have had a lot of neurologic disorders,” Beisang says. “Not just cerebral palsy, but global developmental delay of all kinds. With the advent of genetic testing, we’re now identifying rare diseases in that population.”

Beisang adds, “The main work we’re trying to do is to make life easier for patients and families of kids with rare disease.”