Observational trial recruiting people ages 5 and up with Sanfilippo

The study will observe the development of the disease in the absence of treatment

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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The Lysosomal and Rare Disorders Research and Treatment Center is recruiting people with Sanfilippo syndrome for an observational clinical trial.

The study (NCT05705674) seeks to enroll six participants, ages 5 and older. It’s open to patients with any of the four four types of Sanfilippo. Recruitment is ongoing at the center’s location in Fairfax, Virginia.

As an observational study, the trial won’t be testing any experimental therapies. Instead, its goal is to learn more about the natural history of Sanfilippo — how the disease tends to develop and progress in the absence of treatment.

Study participants will be followed for six months, during which urine and blood samples will be collected, and participants will complete questionnaires and undergo tests of hearing function and clinical evaluations under the direction of the trial’s principal investigator.

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In order to be eligible, participants must have a confirmed genetic diagnosis of Sanfilippo syndrome with disease-causing mutations in the relevant gene — SGSH for type A, NAGLU for type B, HGSNAT in type C, or GNS in type D. The study is open to both male and female participants. Female patients who are able to get pregnant must take a urine test to ensure they aren’t pregnant before entering the trial.

To participate, patients and/or their guardians must give their informed consent and must be willing and able to comply with trial procedures.

Prospective participants must not have been in another clinical trial for an experimental therapy within a month of entering this study. Also, they must not be taking the medicines genistein or miglustat at least one week before entering the study.

Patients entering the trial will be screened for hepatitis B and hepatitis C infection. Those with either are not eligible to participate. The trial, expected to conclude in December next year, is not open to those with medical conditions that might place them at risk or to those with serious health conditions like heart or lung disease.

Team Sanfilippo, a nonprofit medical research foundation founded by parents of children with Sanfilippo syndrome, is a collaborator of the trial.