#IARC2017 (Exclusive Interview) – Walking Ability in FA Shows Decline Until Age 25, When It’s Lost, CCRN Reports

People with Friedreich’s ataxia lose the crucial capacity to move freely around age 25, according to a large and ongoing study by an international network of clinical centers devoted to research into this common ataxia.

The study, “Detailing the natural history of Friedreich’s ataxia – loss of ambulation in the CCRN-FA study,” was presented Thursday at IARC 2017, the International Ataxia Research Conference, by Christian Rummey with the Clinical Data Science GmbH, in Basel, Switzerland. The conference is running through Sept. 30 in Pisa, Italy. (A taped interview with Dr. Rummey follows this article.)

The Collaborative Clinical Research Network (CCRN) is an international network of 14 clinical research centers in the United States, Canada and Australia, working together to advance treatments and clinical care for people with Friedreich’s ataxia. The network is supported by FARA, the Friedreich’s Ataxia Research Association.

CCRN currently hosts the largest natural history study on the disease, with more than 900 patients enrolled and being followed for up to 13 years. It is recruiting new patients continuously.

A major and potentially devastating milestone in Friedreich’s ataxia occurs when patients lose the ability to walk on their own (independent ambulation). As such, treatments preventing or rescuing ambulation are seen as critically important.

Furthermore, Rummey said, it is difficult to study patients once ambulation is lost, and “it becomes really hard to actually follow the disease progression” in them.

The age at which patients lose their ability to walk is highly variable.

Researchers began by looking at data on 610 ambulatory patients in the CCRN-FA study, and then focused on 389 people within that group — all ambulatory and with typical disease onset — to determine the age at which patients started experiencing walking difficulties.

They also assessed walking/falling problems through questionnaires, the timed 25-foot walk (a test of exercise capacity), and disability staging.

Results showed patients first reported mild problems with walking at age 14.6, progressing to needing a cane or walker shortly after their 19th birthday (age 19.1). The disease began for most in the group studied around age 8 (mean age at onset), Rummey said.

Loss of independent ambulation was found to occur around age 25,  a loss associated with severe disability — stage 5 — in functional staging for ataxia.

“The most apparent predictor of progression to loss of independent ambulation remains the age of first ataxic symptoms,” the researchers wrote.

Rummey believes that this study has “probably one of the biggest cohorts that anyone has ever looked at [for] the loss of ambulation” in Friedreich’s ataxia.

Researchers also emphasized that data from the CCRN-FA study can help design better clinical trials — something that’s much needed, Rummey said in a post-presentation interview with Friedreich’s Ataxia News.

Asked if data from the CCRN-FA cohort was already available to researchers working in Friedreich’s ataxia and in FA trials,  he said: “We actively try to talk to companies to design trials. We have seen so many trials fail and many of them have just been wrongly designed to show an effect. And then a company runs a trial, and it is not successful, and they give up the project. So we can’t really afford that anymore.

“And that is why CCRN actively tries to work with companies to design better trials using this data.”

The complete interview with Dr. Rummey can be seen below: