Frequently misdiagnosed or undiagnosed, lysosomal storage diseases are inherited metabolic disorders characterized by an abnormal buildup of various toxic materials in cells caused by enzyme deficiencies. In this collaboration, Invitae’s Detect Lysosomal Storage Diseases program includes a testing panel of 53 genes associated with different lysosomal storage diseases.
The earlier individuals are diagnosed, the earlier they can begin treatment.
“Axovant is committed to developing novel gene therapies for those living with rapidly progressive neurodegenerative diseases,” Parag Meswani, PharmD, Axovant senior vice president of commercial strategy and operations, said in a press release.
“We are hopeful that our collaboration with Invitae will provide families with easier access to genetic testing, and bring us one step closer to identifying patients who may benefit from potential therapies. … Early intervention is ideal with potentially disease-modifying genetic therapies, and our diagnostics partnership with Invitae should allow us to identify and enroll children at even earlier stages of disease progression,” he said.
Studies have indicated that free testing programs with expansive, well-crafted panels help raise utilization of genetic testing that, in some cases, can lessen the time to diagnosis by as much as two years. Accurate diagnoses promotes earlier disease-specific care, resulting in lower costs and better outcomes.
“Genetic testing can expedite an accurate diagnosis, facilitate earlier interventions. allow genetic counseling of family members, and support clinical research for [lysosomal storage diseases] such as GM1 and GM2 gangliosidosis,” said Robert Nussbaum, MD, Invitae chief medical officer. “We’re pleased Axovant has joined the Detect program to help offer no-charge, sponsored genetic testing for those patients suspected of having the disease.”
To be eligible for testing, individuals must have either a confirmed lysosomal storage disease diagnosis or be suspected of having one. Or, they must have one of the following: clinical features, a family history related to lysosomal storage diseases, a lab result suggestive of one of these diseases, or presumptively positive newborn screening results.
The program offers testing with multiple panels as well as single genes. If the test is returned negative, clinicians have the option of using another panel within the original clinical area. All testing results are expected in two weeks, on average.
To help them understand their test results, participants will be offered Invitae-underwritten post-test genetic counseling through GeneMatters, at no charge. Visit this site for more information or to schedule an appointment.
Lysosomal storage diseases have a frequency of about one in 5,000 live births. Some of the main symptoms can include developmental milestone loss, unusual gait, behavior changes, vision loss, hearing loss, seizures, severe pain in extremities, and cardiomyopathy.
We are sorry that this post was not useful for you!
Let us improve this post!
Tell us how we can improve this post?