Axovant, Invitae Offering Free Genetic Testing, Counseling for Lysosomal Storage Diseases

Axovant, Invitae Offering Free Genetic Testing, Counseling for Lysosomal Storage Diseases
0
(0)

Axovant Gene Therapies is collaborating with Invitae to offer free genetic testing in the United States and Canada to children suspected of having a lysosomal storage disease.

The Axovant sponsorship is meant to help bring down barriers to genetic diagnoses and counseling for lysosomal storage diseases including Batten, Fabry, Sanfilippo syndrome, and Pompe disease.

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.

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
Total Posts: 4
Ana holds a PhD in Immunology from the University of Lisbon and worked as a postdoctoral researcher at Instituto de Medicina Molecular (iMM) in Lisbon, Portugal. She graduated with a BSc in Genetics from the University of Newcastle and received a Masters in Biomolecular Archaeology from the University of Manchester, England. After leaving the lab to pursue a career in Science Communication, she served as the Director of Science Communication at iMM.
×
Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
Latest Posts
  • physiotherapy
  • sanfilippo and sleep problems
  • mindfulness

How useful was this post?

Click on a star to rate it!

Average rating 0 / 5. Vote count: 0

No votes so far! Be the first to rate this post.

As you found this post useful...

Follow us on social media!

We are sorry that this post was not useful for you!

Let us improve this post!

Tell us how we can improve this post?