CHOC has been selected as one of five Batten Disease Centers of Excellence across the country and the only one on the West Coast, a designation that will accelerate research to meet the needs of patients affected by this challenging neurometabolic disorder.
The Batten Disease Support Research and Advocacy (BDSRA) Foundation made the announcement at its annual conference in St. Louis.
Says Dr. Coleen Cunningham, senior vice president and pediatrician in chief at CHOC: “This is recognition of CHOC’s national leadership and ability to ‘Go Beyond’ in both clinical care and research.”
Batten Disease is a fatal disorder of the nervous system that typically begins in childhood. CHOC has distinguished itself by treating the largest group of families in the U.S. living with CLN2, one of the most common forms of Batten Disease.
Kids with CLN2 disease are missing an enzyme that chews up waste products in the brain. This lack of a cellular “Pac Man” to gobble up the harmful stuff eventually leads to the destruction of neurons, resulting in blindness, loss of ability to speak or move, dementia, and death – usually by the teens.
In 2017, CHOC began providing an enzyme replacement therapy to CLN2 patients aged 3 and older to slow the loss of walking or crawling ability.
Heightened collaboration
With the new designation, which comes with a $40,000 award, CHOC will accelerate collaboration with other Batten Disease Centers of Excellence (CoE) in research endeavors, says CHOC metabolic disorder specialist Dr. Raymond Wang, principal investigator of the new CoE.
“I am very proud of our competitive inclusion into the BDSRA Centers of Excellence,” Dr. Wang says. “Such an honor represents a recognition of the interdisciplinary collaboration at CHOC amongst pediatric nursing, child neurology, pediatric neurosurgery, metabolic, and all the other specialties involved in the complex care of a patient with Batten Disease.
“But our work here at CHOC and with the CoEs is only beginning. I look forward to working with the CHOC BDSRA CoE team and collaborating with other BDSRA centers of excellence and affiliates to achieve deeper understanding — and someday soon, therapies – for this rare and devastating disorder.”
Dr. Wang adds that CHOC will start participating in a National Institutes of Health rare disease clinical research network application to leverage its position to secure additional support for research on Batten Disease.
Team players
In addition to Dr. Wang, several other CHOC physicians and staff members were instrumental in launching care for its growing number of CLN2 patients.
Dr. Maija Steenari, a CHOC pediatric neurology and epilepsy specialist, collaborates closely with Dr. Wang and his team to translate research findings into improved patient care.
“I’m very honored to be part of the team of these medically complex patients,” says Dr. Steenari, co-principal investigator of the new CoE. “It truly is a team effort, with multiple specialists and inpatient and outpatient services collaborating.
“It’s wonderful to be recognized as a Center of Excellence, and this is just the beginning of our journey together and larger-scale collaboration between centers to come,” Dr. Steenari added. “I’m so thankful for the families who trust us to provide care for their children.”
CHOC neurosurgeon Dr. Joffre Olaya, co-investigator of the CHOC Batten Disease CoE and medical director of neurosurgery, will play a pivotal role in advancing the center’s mission to improve outcomes for individuals affected by Batten Disease, performing a comprehensive range of neurosurgical procedures and collaborating with fellow experts to develop innovative treatment strategies.
Susan See, nurse manager of CHOC’s neuroscience unit and the multispecialty unit, will be program manager of the new CoE. She will collaborate closely with existing personnel in the neuroscience and metabolic departments to ensure seamless integration of its initiatives.
“It is truly an honor to be recognized as a Batten Disease Center of Excellence,” Susan says. “Our patients and their families are the reason our team is driven to continually reach new heights, to further research, and to collaborate with other experts across the country to provide the best care available.”
Adds Trish Stockton, a clinical staff educator in CHOC’s neuroscience unit: “From a nursing standpoint, becoming a Center of Excellence only highlights the amazing program we have been providing to our families for years.
“Having the largest group of CLN2 families that are treated across the United States makes us pretty unique,” Trish added.
“We are extremely proud of this designation and are excited for the future.”
Learn more about CHOC’s metabolic disorders program
Learn more about metabolic rare disease research at CHOC
