Taysha, Invitae Partner on Rapid Genetic Testing for Lysosomal, Epileptic Disorders

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by David Melamed |

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Taysha Gene Therapies has announced a partnership with Invitae to support two of Invitae’s programs that enable more rapid diagnoses for patients with lysosomal storage disorders and epileptic conditions, including Batten disease.

Through this partnership, patients who are screened for genetic conditions through either of the two programs — Detect Lysosomal Storage Diseases (Detect LSDs) and Behind the Seizure — will have the opportunity to gain access to treatments and clinical trials that are being directed by Taysha.

“Through both initiatives, we are supporting the rapid identification of patients with debilitating diseases, allowing them to gain access to earlier therapeutic interventions,” RA Session II, Taysha’s president, CEO, and founder, said in a press release. “We are proud to support these initiatives to help patients gain timely access to natural history studies, clinical trials, and ultimately disease-modifying therapies.”

As both an lysosomal storage disorder (LSD) and a condition that causes epilepsy, Batten disease, also known as neuronal ceroid lipofuscinosis, is included in both Invitae programs.

“For LSDs, there are more than 50 different disorders with overlapping symptoms, making misdiagnosis common,” Session said. “Likewise, more than 50% of epilepsies have a genetic basis. When a patient presents with seizures, genetic testing may help identify more than 100 underlying, often rare conditions.”

Both the Detect LSDs and Behind the Epilepsy programs involve patients submitting a sample through a collection kit designed by Invitae. This allows researchers to investigate a patient’s DNA for any genetic mutations linked to a variety of conditions.

The Detect LSDs test analyzes up to 53 genes linked to LSDs, and the Behind the Epilepsy test analyzes up to 192 genes associated with epilepsy.

These programs also include follow-up genetic counseling through GeneMatters, in which specialists help to interpret genetic test results for patients wishing to seek more information.

Through the partnership between Invitae and Taysha, eligible patients suspected of having either an LSD or an epileptic condition will be given free access to the corresponding Invitae program.

The partnership will also allow patients direct access to Taysha’s ongoing and planned gene therapy clinical trials. The company is focused on developing gene therapies that use harmless adeno-associated viruses that have been engineered to deliver replacement copies of a mutant gene known to be individually responsible for central nervous system (CNS) disorders.

“Increasing access to genetic testing can support earlier diagnosis of neurodegenerative diseases, which in turn enables clinicians to provide precision therapies sooner and better overall outcomes,” said Robert Nussbaum, MD, chief medical officer of Invitae. “These unique, cross-company collaborations have been shown to help increase access to testing and reduce time to diagnosis. We are pleased Taysha has joined us in helping increase access to testing for children impacted by neurodegenerative conditions.”

Invitae has partnered with a number of companies in similar collaborative efforts. One example is its recent partnership with Sio Gene Therapies (formerly Axovant), aimed at facilitating access to genetic diagnosis and counseling through the Detect LSDs program for patients with conditions such as Batten, Fabry, Sanfilippo syndrome, and Pompe disease.

These partnerships are ultimately aimed at providing better and more targeted healthcare to patients in need.