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April 18, 2019April 18, 2019

Researchers Develop Stem Cell Line to Study Sanfilippo Syndrome Type B

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Researchers at the National Institutes of Health have developed an induced pluripotent stem cell (iPSC) line from a 1-year-old child with a mutated NAGLU gene, the gene responsible for Sanfilippo ... Read more

April 11, 2019April 11, 2019

Gene Therapy ABO-101 Granted FDA’s Fast Track Status for Sanfilippo Syndrome Type B

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Abeona Therapeutics’ experimental gene therapy ABO-101 for people diagnosed with Sanfilippo syndrome type B has been granted Fast Track designation by the U.S. Food and Drug Administration (FDA). The company is currently enrolling eligible patients ... Read more

April 4, 2019April 4, 2019

Alpha-Synuclein Not Responsible for Early Symptoms of Sanfilippo Type A, Study Shows

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Alpha-synuclein protein is not responsible for the onset of cognitive and motor symptoms associated with Sanfilippo syndrome type A, a mouse study suggests. The study, “Early disease course is ... Read more

March 28, 2019March 28, 2019

Exome Data That Include Unknown Genetic Variants May Better Estimate Sanfilippo Type B Incidence, Study Says

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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 ... Read more

March 22, 2019March 22, 2019

Team Sanfilippo Planning to Launch Phase 2 Trial Testing Trehalose as Sanfilippo Treatment

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Nonprofit research foundation Team Sanfilippo (TSF) is preparing to launch a Phase 2 clinical trial to explore the safety and efficacy of a common sugar called trehalose as a ... Read more

March 14, 2019

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

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Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of ... Read more

March 12, 2019March 11, 2019

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

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With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed ... Read more

March 7, 2019March 7, 2019

Siblings of Terminally Ill Children Need More Support, Young Website Founder Says

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Siblings of terminally ill children need more support to deal with loss, said the founder of a support website who presented at the 15th Annual WorldSymposium for lysosomal disorders, which ... Read more

March 7, 2019March 5, 2019

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

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Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known ... Read more

February 28, 2019February 28, 2019

Phase 2/3 Trial for MPS IIIA Gene Therapy Candidate LYS-SAF302 Starts Dosing Patients

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The first patient has been dosed in a Phase 2/3 clinical trial evaluating Lysogene‘s gene therapy candidate LYS-SAF302 for Sanfilippo syndrome type A, also known as mucopolysaccharidosis type IIIA (MPS IIIA). ... Read more

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