With top-line pivotal data with gene therapy RGX-202 for Duchenne muscular dystrophy (DMD) due in the next quarter, Regenxbio Inc. rolled out positive interim data from the phase I/II Affinity trial at the Muscular Dystrophy Association Clinical and Scientific Conference (MDA) in Orlando, Fla., where Bridgebio Pharma Inc., Capricor Therapeutics Inc., and Solid Biosciences Inc. also had clinical findings to talk about.

GM1 gangliosidosis is a lysosomal storage disease caused by mutations in the human GLB1 gene, encoding the ubiquitous lysosomal β-galactosidase. GM1 causes a rapidly progressing neurodegeneration, which can be lethal in the first 2 years of life in the most severe cases.

Glucocerebrosidase (GCase), encoded by the gene GBA1, is a ubiquitous lysosomal enzyme that breaks down lipid substrates, glucosylceramide (GL-1) and glucosylsphingosine (Lyso-GL1), into glucose and ceramide. Loss-of-function mutations in GBA1 reduce GCase activity, resulting in lipid accumulation within lysosomes and subsequent lysosomal dysfunction.

The regulatory clouds that have been darkening the U.S. FDA landscape of late for Uniqure NV’s gene therapy AMT-130 in Huntington’s disease may be parting a bit with the announced departure of Vinay Prasad as director of the agency’s CBER at the end of April.

Entering its first major cardiovascular disease collaboration with a biopharma company, while it advances two internal gene therapies, Tenaya Therapeutics Inc. signed on with Alnylam Pharmaceuticals Inc. to deliver up to 15 novel genetic targets that could lead to new heart disease medicines. The deal comes with $10 million up front, and up to $1.13 billion is available to South San Francisco-based Tenaya if all targets meet certain milestones, leading to approved therapeutics that Alnylam develops and commercializes.

Entering its first major cardiovascular disease collaboration with a biopharma company, while it advances two internal gene therapies, Tenaya Therapeutics Inc. signed on with Alnylam Pharmaceuticals Inc. to deliver up to 15 novel genetic targets that could lead to new heart disease medicines. The deal comes with $10 million up front, and up to $1.13 billion is available to South San Francisco-based Tenaya if all targets meet certain milestones, leading to approved therapeutics that Alnylam develops and commercializes.

At the current pace of innovation in the U.S. rare disease space, developing and approving therapies for just half of the 10,000-plus known rare diseases would take more than 160 years, Bradley Campbell, president and CEO of Amicus Therapeutics Inc., recently told the Senate Committee on Aging.

A lot of distance lies between talking regulatory flexibility and actually being flexible. That message was driven home again after Uniqure NV disclosed in its latest earnings report March 2 that the U.S. FDA wants a sham-controlled study before it will consider approval of the company’s gene therapy AMT-130 in Huntington’s, a rare disease currently affecting about 41,000 people in the U.S.

Cure Rare Disease has entered into a multiyear partnership with the LGMD2L Foundation to develop a gene replacement therapy for anoctamin 5 (ANO5)-related disease, a rare genetic disorder.