Author Archives: Forest Ray PhD

The U.S. Food and Drug Administration (FDA) has given Catalent Biologics approval to aid in manufacturing products for use with AveXis’ spinal muscular atrophy (SMA) gene therapy, Zolgensma, at its Maryland facility. The FDA inspected the company’s commercial-scale gene therapy manufacturing center in June. Catalent and AveXis,…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

Levels of the survival motor neuron (SMN) protein in the blood of people with spinal muscular atrophy (SMA) shows promise as a biomarker for predicting disease severity, a study reports. Specifically, SMN levels correlate with the severity of motor-neuron loss — denervation — and with the number of…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit. But…

Full-scale recruitment for an AUD$20 million (about $13.9 million U.S.) nationwide study to screen for severe genetic conditions has begun in Australia. Following the results of a pilot program that tested 60 couples, the current study seeks to screen 10,000 volunteer couples for genetic variants that raise their risk of…

Finding biomarkers that capture neuroinflammation is critical to the continued use of gene therapies carried on an adeno-associated virus (AAV) as a transport agent, according to a recent review. AAV-based gene therapies are of growing importance to  treating neurodegenerative and neuromuscular disorders like spinal muscular…

Genentech announced, without providing details, positive topline results from the pivotal second part of its FIREFISH clinical trial of risdiplam, now before the U.S. Food and Drug Administration for approval. The company said in its release that risdiplam demonstrated statistically significant and medically meaningful motor milestone improvement…

A panel of experts has developed a new treatment algorithm for infants diagnosed with spinal muscular atrophy (SMA) via newborn screening, a study reports. Such newborn screens are vital because outcomes for SMA improve dramatically if therapy begins within the first few days of…