fara Australia Patient & Family Information Forum, part 2 of 5

On Feb 29th, 2024 fara gathered the leading FA researchers in the country, brought them to Brisbane and held a forum at UQCCR for them to tell us about their work. I was lucky enough to be able to attend those presentations, but having rewatched them, I realise that I missed much that was presented at the time. Fortunately fara organised for them all to be recorded and you can view them in your own time at https://www.fara.org.au/news/watch-all-presentations-from-our-recent-patient-and-families-information-forum. Alternatively, you can read my summaries of what was presented (one previously, another below and a few more in coming weeks); or check out both and let me know if you think I’ve done a good job!

I’ve previously written a note summarising presentations from Ian Harding and Mirella Dottori. you can find that HERE.

The next presenter was John O’Sullivan, about the Brisbane FA Clinic itself (find out about the Brisbane FA Clinic HERE). John talked briefly about the history of the Brisbane Clinic, noting that it should be evaluated in isolation against its own criteria – monitoring and giving advice for managing life with FA to patients in QLD (and northern NSW) - rather than in comparison with any other.

The Brisbane Clinic is officially Health Department-funded only by way of a Clinical Nurse Coordinator but has built into a solid team nonetheless. It is tied in well with Cardiology and Audiology at RBWH, and benefits from its location (still offered rent-free by UQ) and a number of neurologists and allied health specialists who juggle their schedules to make their time available. There’s a mix of FA experience and new members and the collaborative information-sharing team-consultation environment ensures that a bank of knowledge has been built that benefits the entire QLD FA community.

John spoke of how FA is a rare condition that doesn’t really warrant its own specialists. It’s a movement disorder but manifests differently across different modalities. The venn diagram of how and when FA is relevant is quite different across a number of disciplines, but it’s fortunate for us that that uniqueness goes some way to explaining why the interdisciplinary Clinic team remains engaged.

Critically in FA, the field of cardiology and heart-care worldwide has advanced so whereas heart-related issues were disproportionately responsible for FA deaths in past years, heart problems are much better monitored and managed now so other disciplines take on relatively greater significance.

A core challenge for the team is the mental fortitude of FAers. Unlike sufferers of other conditions, FA progression isn’t characterised by loss of mental acuity, nor FAers by despondency or giving up. On the contrary, the team often need to counsel FAers on implications of progression in real life and how overconfidence or outright denial can lead to potentially risky situations; from transitioning between balance and walking aids, to progression to softer foods less likely cause coughing and choking hazards, to the need for and implications of driving OT assessments.

Another theme that’s highly important for FAers and relevant across multiple disciplines is communication. Speech pathologists look at swallowing and breath control, physios and OTs at strength, dexterity and fine motor control for typing. Maintaining communication ability is important not only for its own sake but also to avoid the lazy assumption made often by strangers that an inability to communicate clearly is caused by mental deficiency.

John acknowledged the important role the NDIS has played in the lives of QLD FAers, not just in making it easier to get to and around the clinic, but also in being able to follow up on therapist recommendations, access therapy and live richer lives all round.

He spoke about the structure of the QLD Clinic which is set up principally as a consultancy with 1-1 neurology appointments for example, but that both patients and therapists themselves benefit from having the allied health team consult as a group. While time for that remains the highest priority, all have benefitted when time is allocated also for the clinic to participate in research.

Valuable learnings were gained from Brisbane being a research site for the Resveratrol and muscle stim trials, which pay off not only in QLD clinicians and FAers being participants, but also will continue to pay dividends into the future as more research opportunities present themselves, and even when skills gained might be needed for specialist drug administration.

Next up after John was the double-act of Monique Bueno-Alves and Lucas Tocchini, both from Biogen Australia. Given the laws and regulations that prohibit companies from talking about prescription medicines with the general population, Monique and Lucas chose to use the time to help explain the lengthy and robust processes that a medicine needs to go through before a doctor can choose to prescribe it.

In the year since Skyclarys was designated by the FDA as the first treatment for FA with drug approval in the US, Biogen has bought Reata, the company that developed it, has successfully presented and obtained approval for it across the EU, is awaiting approval in the UK and is preparing a submission for the Therapeutic Goods Administration (TGA) in Australia.

EDIT (Oct 2024): Submission has been formally presented to the TGA.

EDIT (Nov 2024): Skyclarys will be assessed by PBAC at its meeting in March 2025, (this is separate from the TGA approval process). There is an opportunity for individuals to make submissions that will be considered within this assessment. Details on how to prepare a submission and where to make it are here: https://www.fara.org.au/news/skyclarys-to-be-considered-by-pbac. Final date for submissions is Wednesday 29th January 2025).

It takes only a moment to answer the questions uppermost in all our minds about Skyclarys but given the restraints Monique and Lucas were under, their answers were bound to disappoint (“Will Skyclarys be approved in Australia?” “Nothing is guaranteed but based on success in the US and EU we’re hopeful.” and “When will Skyclarys be approved here?” “Nothing is guaranteed but it’ll start with the TGA.”).

Monique and Lucas presented a fuller history of Biogen and the process Skyclarys is involved in, to share what is needed at each step and why it takes so long. Given their presentation, we can surmise that they’re planning even today for not just TGA approval but the steps it’ll need to go through even after that to be available to everyone.

Monique explained the research and development process that a pharmaceutical company controls, which on its own can take up to 17 years. It includes the original molecule discovery and function identification, phase I and II clinical trials to establish that the drug is safe and what’s an effective dose, and the all-important double-blind placebo-controlled phase III clinical trial which if successful, will demonstrate significant improvement on predetermined measures, among patients who received the medicine versus those who didn’t.

In Australia there are currently more than 11,000 trials happening, 10 specific to FA, which might not seem to be many in the global scheme of things but is very high on a population basis. We benefit from an excellent educational, regulatory, ethical, supervisory, medical and clinical environment and the availability of such a diverse cohort of patients is yet another reason we’re the world’s most successful multicultural society.

And Lucas explained that that’s still far from the finish line. Many of us will have heard of the first government authority which needs to grant approval for registration, the TGA. They assess the proof of a proposed medicine’s efficacy (does it work?) and its safety among other things. The standard for TGA approval is 12 months from first submission but as noted previously, nothing is guaranteed, neither final approval at all nor the timing of the process.

Separately from (EDIT: After) registration from the TGA, a medicine needs a Health Technology Assessment from the Pharmaceutical Benefits Advisory Committee (PBAC), to look at whether a proposed medicine’s better than what’s currently available, why and how; and whether a proposed medicine represents value for money (can it deliver a tangible benefit to enough people, in what timeframe and at what cost?).

The PBAC’s final step will be agreeing with the company on the listing on the PBS (Pharmaceutical Benefits Scheme) thereby making the medicine available to all Australians at a set price (and the government will pay the rest).

Once this process starts formally, there will be an opportunity for all FA families to be part of the PBAC’s review by contributing through a ‘Consumer Comments’ process. There will be opportunities for us to provide relevant input and specific topics for us to comment on. So make sure the contact details that fara has for you are kept up-to-date.

This is the second of a number of these write-ups. Please comment here or on Facebook if you find them useful and have comments about the Clinic or Biogen. Look out for the next one in a few weeks.