Taysha, Invitae Partner to Offer Genetic Testing for Lysosomal Storage Disorders, Epilepsy

Marisa Wexler MS avatar

by Marisa Wexler MS |

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Taysha Gene Therapies and Invitae have announced a partnership to support Invitae’s Detect Lysosomal Storage Diseases (Detect LSDs) and Behind the Seizure programs by offering free genetic testing to patients.

The Detect LSDs program aims to enable the rapid diagnosis of lysosomal storage diseases such as Sanfilippo syndrome, a rare genetic metabolism disorder in which the body is unable to break down certain carbohydrates (sugars).

Meanwhile, Behind the Seizure supports faster diagnoses for children with epilepsy.

With these programs, individuals suspected of having either a lysosomal storage disorder or an epilepsy condition can have genetic testing and get counseling at no charge. Eligible patients also will have the opportunity to gain access to treatments and clinical trials that Taysha is conducting.

“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 founder, president, and CEO, said in a press release.

In both programs, patients submit a sample through a collection kit designed by Invitae. Researchers then can use these samples to analyze the patients’ DNA, with the aim of detecting genetic mutations associated with various conditions.

Specifically, the Detect LSDs test assesses up to 53 genes linked with lysosomal storage diseases; the Behind the Epilepsy test looks at up to 192 genes tied to epilepsy.

“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.”

The programs also allow patients to access follow-up genetic counseling — in which specialists help to interpret the results of the genetic tests — through GeneMatters.

Invitae has partnered with several other companies in similar collaborative efforts. For instance, a recent partnership with Sio Gene Therapies (formerly Axovant) hopes to facilitate access to genetic testing and counseling through the Detect LSDs program for people with other lysosomal conditions such as Batten, Fabry, and Pompe diseases. As with the collaboration in Sanfilippo, these partnerships aim to give better and more targeted healthcare to people who need it.

“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,” Nussbaum said. “We are pleased Taysha has joined us in helping increase access to testing for children impacted by neurodegenerative conditions.”

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