More than 20 presentations at IARC 2017, the recently concluded International Ataxia Research Conference in Pisa, Italy, focused on treatments, demonstrating the progress scientists are making in expanding the therapy pipeline.
This observation came from Jennifer Farmer, executive director of the Friedreich’s Ataxia Research Alliance, one of the three groups that organized the IARC conference. She shared her thoughts with Friedreich’s Ataxia News about what the event accomplished, along with representatives of the other organizers — Sue Millman, chief executive officer of Ataxia UK, and Filomena D’Agostino, president of Italy’s GoFAR.
Farmer said the 20 presentations covered all phases of treatment development: discovery, preclinical trial studies, and clinical trials.
Reata’s omaveloxolone, which is aimed at restoring mitochondrial function, is moving into a second and perhaps pivotal stage of a Phase 2 trial (NCT02255435), the company’s vice president, Dr. Colin Meyer, told Friedreich’s Ataxia News reporter Patricia Inacio.
Mitochondria are a cell’s energy generators. Their malfunctioning prevents vital organs from working properly, and are a leading cause of Friedreich’s ataxia. Omaveloxolone is designed to activate the Nrf2 protein within cells to restore this energy production, according to Meyer, who is also Reata’s chief medical officer.
The conference underscored the “significant growth and advancement in drug discovery and development for therapies that target frataxin,” the protein that’s missing in Friedreich’s ataxia, Farmer said. “This was most notable in the number of presentations on genetic-based therapies, including oligonucleotide and gene replacement strategies.” Oligonucleotides are gene components that help transfer genetic information to proteins.
Like Farmer, D’Agostino was excited about the many conference presentations on using gene therapy to combat Friedreich’s ataxia.
“This field is growing so fast, and it offers immense promise to the patient community,” she said. An indication of how fast, she said, is that gene therapy generated little fanfare at the first IARC conference in Windsor, England, in 2015.
D’Agostino said she’s happy that her organization, GoFAR, is helping to build gene therapy momentum by funding a major research project at the University of Florida.
Drs. Barry Byrne and Manuela Corti are leading the $750,000 effort. “The project is an important milestone in the development of a treatment strategy that will dramatically improve the quality of life for patients,” Corti said.
Millman said another important development at the conference was ataxia research advocacy organizations’ commitment to expanding the FA Global Patient Registry.
FARA started the registry, which collects information on people with Friedreich’s ataxia to help scientists conduct research on the disease and to facilitate clinical trials into potential therapies for it. It is also a shared resource, with other research advocacy organizations contributing to and benefiting from it.
“We are proud that our international collaborations to advance research and treatments for FA and related ataxias continue to grow,” Millman said.
Farmer, D’Agostino and Millman were cheered by the sheer size of this year’s IARC crowd. More than 400 people from 22 countries attended.
Attendees included patients and caregivers, five of whom took part in an hour-long roundtable on the challenges of living with an ataxia and what they would most like to see treatments address. The five said that in addition to therapies that address the movement and balance difficulties that are hallmarks of ataxias, they would like to see treatments for the vision, hearing and speech losses that the diseases can generate.
Noting that the roundtable was a conference first, Millman said the organizers were “delighted to have a patient roundtable discussion where individuals with FA, and parents and caregivers could share their personal stories and talk about their treatment needs.”
Also among the participants were “a significant number of young investigators [scientists], which is important because it demonstrates growing interest in ataxia research,” she noted.
To help show its appreciation for the young scientists, Ataxia UK presented awards for best poster session to two of them.
Saba Saqlain won the award for the best Friedriech’s ataxia poster. Its title is “Comparison of two GAA repeat expansion-based Friedreich ataxia mouse models: YG8sR and YG8LR.”
The award for best poster for other ataxias went to Neslie Ece Sen. This poster is titled “Ataxin-2 regulates mitochondrial precursors to maintain nutrient balance and cellular energetics.”