Clinical trials are an essential step in treatment development, yet the many people they could potentially help are either unfamiliar with the studies or unsure about what they entail. To help remedy that, the Sanfilippo Children’s Foundation has developed fact sheets about clinical trials.
The family resource provides at-a-glance information about global research studies underway in people with Sanfilippo syndrome, a progressive genetic disorder marked by continual brain cell damage.
While no therapies have been approved to treat Sanfilippo, there has been an uptick in recent years in the number of clinical trials. Multiple trials are currently taking place, five of which are recruiting participants. The studies are at various stages and phases.
The fact sheets are divided into treatment approaches for the disease’s four subtypes — A, B, C, and D. Treatment approaches include gene therapy and genome editing, enzyme replacement therapy (ERT), stem cell therapy, and other treatment targets such as substrate reduction therapy, an approach that hinders cellular production of heparan sulfate, the sugar that accumulates in patients’ tissues and leads to cellular damage.
“A well-executed clinical trial that proves a therapy to be safe and effective offers the best chance at getting regulatory approval for widespread use in patients with Sanfilippo,” the foundation states on its webpage. “These are certainly exciting times in Sanfilippo research.”
In general, the goal of clinical trials is to determine whether a device, procedure, or pharmaceutical therapy works in humans, and is safe. These studies also may test new ways of using existing treatments, assess other aspects of care, or simply record daily life of people with a disease over time.
Patients, as well as healthy volunteers, may be enrolled in these trials. The studies are controlled to ensure they are carried out as intended, and all participants are monitored so that any issue or potential risk is identified as soon as possible. All clinical trials are regulated by law and require governmental approval before they can begin.
Scientists aim to gather enough scientific evidence — proof that is clinically meaningful and reproducible — to support an application to a regulatory body for approval of what’s being tested. In the U.S., all applications are submitted to the Food and Drug Administration for approval.
The fact sheets were made possible by a $10,000 CommBank grant awarded to the Australia-based foundation to provide information about emerging Sanfilippo treatments.
Each fact sheet includes study information such as the sponsoring company, a brief trial description, trial location(s), therapy type, mode of therapy administration, patient criteria, latest study results or progress, and trial status (whether it’s active or recruiting participants).
For example, the fact sheet for Sanfilippo Type A lists a Phase 1/2 Abeona Therapeutics open-label trial (NCT02716246) for patients ages 6 months and older. The study, which is recruiting in the U.S., Australia, and Spain, is assessing the safety and efficacy of escalating doses (low, medium, or high dose) of gene therapy candidate ABO-102.
Early trial data showed that ABO-102 led to sustained reductions in heparan sulfate in patients’ cerebrospinal fluid and stabilized or improved cognitive function in patients given the low and medium dose.
Recent data has shown that ABO-102 continued to improved neurocognitive skills 18 months to two years after treatment in patients younger than 2.5 years, while demonstrating a favorable safety profile.
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