Marisa Wexler, MS, senior science writer —

Any child who experiences developmental delay or intellectual disability by age 18 should undergo genetic sequencing as a first- or second-line diagnostic test, according to new guidelines published by the American College of Medical Genetics and Genomics (ACMG). Such genetic sequencing also should be done for infants with congenital anomalies…

A clinical trial extension study involving 12 children with Sanfilippo syndrome type A was terminated early, after efficacy analyses found that the investigational enzyme replacement therapy it was testing failed to show evidence that it could slow the patients’ progressive cognitive or neurological impairment. After a median of 264.4 weeks…

M041, an enzyme replacement therapy M6P Therapeutics (M6PT) is developing for Sanfilippo syndrome type B, can effectively be transported into cells, proof-of-concept preclinical data show. With data showing such “increased efficiency … M041 is a potential novel recombinant enzyme therapy for Sanfilippo B syndrome,” M6PT said in a…

Two never-before-reported mutations were found in Sanfilippo syndrome type B patients, with one likely to be disease-causing, a recent study reported. How the other identified mutation relates to this disease is not yet known, its researchers said. The study, “Clinical and genetic features of 13 patients with…

Eye Movement Desensitization and Reprocessing (EMDR) can help to ease symptoms of post-traumatic stress disorder (PTSD) in parents of children with Sanfilippo syndrome, a case study suggests. The study, “Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization…

Treatment with ABO-102, an investigational gene therapy being developed by Abeona Therapeutics, normalized development in children with Sanfilippo syndrome type A, according to new data from a clinical trial. The data indicate that the gene therapy is especially effective when given early in life, before the disease has…

Taysha Gene Therapies and Invitae have announced a partnership to support Invitae’s Detect Lysosomal Storage Diseases (Detect LSDs) and Behind the Seizure programs by offering free genetic testing to patients. The Detect LSDs program aims to enable the rapid diagnosis of lysosomal storage diseases such as…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Problems with one or more senses are common in people with Sanfilippo syndrome and other mucopolysaccharidoses (MPSs), but there is very little research into how these impairments affect daily living or life quality, a new paper indicates. Collecting data using questionnaires or forms filled in by patients that…

Seelos Therapeutics announced it has received a positive opinion on an orphan drug designation for SLS-005 (trehalose) — its investigational therapy for Sanfilippo syndrome — from the Committee for Orphan Medicinal Products (COMP), a part of the European Medicines Agency (EMA). Following this opinion from…