Experts Publish Consensus Guidelines for Sanfilippo Care
Goal of resource is to aid families, doctors with little knowledge of rare disease
An international group of experts has published a set of consensus guidelines outlining how best to provide medical care for people with Sanfilippo syndrome.
“The goal was to create a consensus set of basic clinical guidelines that will be accessible to and informed by clinicians globally, as well as providing a practical resource for families to share with their local care team who may not have experience with this rare disease,” the team wrote.
The study, “Sanfilippo syndrome: consensus guidelines for clinical care,” was published in the Orphanet Journal of Rare Diseases.
There have not previously been any published guidelines for how best to care for Sanfilippo patients. In rare, complex disorders like Sanfilippo, such guidelines can be crucial for ensuring all patients get the best possible care.
“Best practice guidelines for the clinical management of rare diseases are critical to ensure prompt diagnosis and initiation of appropriate care,” the researchers wrote. “Such guidelines allow physicians and other healthcare professionals to make recommendations based on the best available evidence, to improve the consistency of diagnosis and clinical management across treatment centers, and to enable affected families to make informed decisions regarding therapy.”
Surveying patients, reviewing literature part of research
To create these new guidelines, an international committee of clinical experts with extensive experience treating Sanfilippo patients performed a detailed review of the published literature and surveyed dozens of Sanfilippo specialists.
From these analyses, the researchers generated 178 guideline statements covering different aspects of care for Sanfilippo syndrome. The team then combined these statements, highlighting major themes to distill them into a practical, user-friendly format.
One major theme was the importance of an early and accurate diagnosis. Prompt diagnosis can minimize delays in getting care, but it’s not uncommon for Sanfilippo children to experience multiyear diagnostic delays with many misdiagnoses along the way, the researchers noted.
The team said that suspicion for Sanfilippo should be raised if patients present behavioral and cognitive abnormalities (e.g., delayed speech) alongside other traits common in Sanfilippo, such as unusual facial features, upper respiratory congestion, or recurrent digestive discomfort. They also noted the disorder should be considered as a potential diagnosis in children and older patients, as some types progress slowly and might not be apparent until adulthood.
After a diagnosis is made, the main goal of Sanfilippo care is “to optimize the quality of life for patients and their families,” the researchers said. This requires a multidisciplinary team of experts to help with various aspects of the disease, including doctors, nurses, dietitians, counselors, and therapists.
Specific care strategies will change as the disease progresses — at early stages, care generally emphasizes putting together a care team and providing support; then, at latter stages, care focuses on easing the burden caused by symptoms and trying to minimize disease complications. For example, anti-seizure medications may be given to patients who develop epilepsy, and individuals with difficulty sleeping may benefit from melatonin supplementation.
Given that family members living with or caring for an individual with Sanfilippo syndrome will most likely experience significant psychological stress and social challenges, proactive intermittent assessment of caregivers’ anxiety, depression, and chronic traumatic stress with appropriate referral is warranted.
The guidelines note that, in day-to-day care, it’s important to keep an eye out for possible sources of pain in discomfort in patients, which may manifest as behavioral changes or acting out because the individual is struggling to communicate the discomfort.
It is recommended patients undergo regular monitoring of cognition and motor function so that supports can be given as needed. Screening for problems with the heart and respiratory system is also recommended, and patients should be checked for problems with hearing and vision.
Routine psychiatric support is advised for people affected by Sanfilippo. The guidelines stress that it’s important to provide support not just for the patient, but also for their family and loved ones, especially parents who are often exposed to traumatic medical events as they care for their child.
“Given that family members living with or caring for an individual with Sanfilippo syndrome will most likely experience significant psychological stress and social challenges, proactive intermittent assessment of caregivers’ anxiety, depression, and chronic traumatic stress with appropriate referral is warranted,” the researchers wrote, noting that resources like patient support groups may be helpful.
The team also stressed the importance of continuing to revise and update these guidelines going forward, especially as new treatments targeting Sanfilippo syndrome are being developed.
The development of these guidelines was funded in part by Global Genes, BioMarin Pharmaceutical, Cure Sanfilippo Foundation, and Sanfilippo Children’s Foundation.