TeleRare Health launches virtual clinic for US rare disease patients

Goal is to 'shorten the rare disease diagnostic odyssey'

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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TeleRare Health has launched a video-based virtual clinic exclusively for people in the U.S. who are living with a rare disease, which may provide a new resource to individuals with conditions such as aromatic l-amino acid decarboxylase (AADC) deficiency.

The goal, the Minnesota-based virtual care company states on a webpage, is to “shorten the rare disease diagnostic odyssey from years to weeks” by providing the right genetic testing services and care to people with rare conditions. In the U.S., a rare disease is defined as one affecting fewer than 200,000 people.

Participating patients will be followed by a team of clinical experts, and benefit from what the company calls an artificial intelligence (AI) revolution in genetic diseases. Clinicians from TeleRare Health will provide constant surveillance for novel genetic variants, according to the company.

An estimated 10,000 rare diseases, including ultra-rare AADC deficiency, are known to affect more than 30 million Americans.

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People with rare diseases often experience diagnostic delays that can last years, with misdiagnoses commonly occurring.

“Rare disease patients must go on a frustrating and convoluted diagnostic odyssey, often involving long wait times for appointments and extended journeys for in-person care,” Stacy Pike-Langenfeld, founder of KrabbeConnect, a foundation devoted to accelerating awareness and research for Krabbe disease, said in a TeleRare press release.

“There are numerous virtual clinics in America for heart, kidney, and musculoskeletal care, to name just three entities.  We’re overdue for a virtual clinic for the millions of Americans with rare disease conditions, and TeleRare Health’s launch is cause for optimism,” Langenfeld added.

TeleRare Health has a network of specialists in genetics and makes use of advanced molecular diagnosis tools, according to the company. Once a diagnosis is achieved, that network fosters patient access to specialty care through referrals, regardless of an individual’s geographic location.

Patients also are advised, during virtual clinics, on the best treatments available, and receive information regarding clinical trials planned or underway across all U.S. states.

For all patients, we’ll offer symptom management through convenient video visits, with a methodical focus on detecting potential escalation and avoiding it.

While “significant breakthroughs have occurred in the management of rare disease, … approved treatments are available for a tiny fraction of these diseases,” said Alex Katz, MD, medical geneticist and chief medical officer of TeleRare Health, who also noted that “access to care remains a problem for too many patients.”

“We’ll work closely with rare disease patients to benefit from the available medications, and help all other patients to enroll, as possible, in the best option among the rapidly growing set of clinical trials,” Katz added.

Late last year, TeleRare Health won the award for Early-Stage Innovation at the third annual Bear Institute Pediatric Accelerator Challenge for Kids (Bear PACK) competition, aimed at fostering digital health innovation for children.

The company now hopes to reach more people of all ages through its new virtual clinic programs.

“For all patients, we’ll offer symptom management through convenient video visits, with a methodical focus on detecting potential escalation and avoiding it,” Katz said.