Joana Carvalho, PhD, managing science editor —

One of the children participating in the Phase 2/3 trial of LYS-SAF302, Lysogene’s gene therapy candidate for Sanfilippo syndrome type A, has died. The exact cause of death is currently unknown, and there is no clear evidence yet to indicate it might be related to treatment, according…

An accurate and early diagnosis of Sanfilippo syndrome type C can be difficult, as this subtype is quite rare, but important to prevent life-threatening complications and improve life quality, a case report highlighted. The report, “A Rare case of Sanfilippo syndrome type ‘C’,” and published in the Indian…

Physicians should be aware that milder and slow-progressing forms of Sanfilippo syndrome may not be associated with severe cognitive impairments and may emerge differently later in life, a study has found. The research, “The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment…

After a pivotal start in 2019 to its clinical program for Sanfilippo syndrome type A, Lysogene has announced its new goals for developing a treatment for the disease, also known as mucoplysaccharydosis IIIA (MPSIIIA). During the first half of this year, Lysogene has achieved important milestones in…

A multidisciplinary approach tackling not only the behaviors and symptoms of children with Sanfilippo type B, but also the needs and quality of life of their caregivers, is vital to alleviate the physical and emotional burden experienced by these carers, a study says. The findings of the study, “…

Scientists have developed a new method to gather samples of cerebrospinal fluid (CSF) — the liquid that circulates in the brain and spinal cord — in mice that allows them to analyze levels of a specific biomarker for Sanfilippo syndrome. The study, “Collection of cerebrospinal fluid from murine…

Using different cellular models of Sanfilippo syndrome type B, researchers have found that exposure time and dose significantly affect the cellular uptake of BMN 250, an investigational enzyme replacement therapy, and the clearance of sugar molecules called heparan sulfate. The study, “Differential uptake of NAGLU-IGF2 and…

Exome sequencing data — the DNA sequence of all genes encoding for proteins — that include the contribution of variants of unknown significance (VUS), may allow researchers to estimate accurately the incidence of rare genetic disorders, including Sanfilippo syndrome type B, a study suggests. The study, “…

Restoring the activity of the alpha-N-acetylglucosaminidase (NAGLU) enzyme using enzyme replacement therapy (ERT) is well-tolerated by patients with Mucopolysaccharidosis IIIB (MPS IIIB), but fails to improve clinical outcomes, a Phase 1/2 clinical trial shows. The findings of the study, “Final results of the phase 1/2, open-label clinical…

Combined behavioral and pharmacological therapy seems to be the best course of action in treating behavioral and sleep problems in children with mucopolysaccharidosis (MPS) disorders, a review study has found. MPS comprises a group of lysosomal storage disorders caused by deficiencies and/or malfunction of specific enzymes responsible for breaking…