Unadulterated community insights drive clinical trial success in a neglected adult rare disease community, despite COVID-19 pandemic.

Written by Nadia Bodkin 

As the U.S. grapples with the COVID-19 pandemic, the rare disease advocacy community, representing over 360 million people worldwide, is counting the results of a recent clinical trial in Rett syndrome as a win for all.

The restrictions imposed on the world as the human race has been forced into a new normal with climbing SARS-CoV-2 infections, the coronavirus that causes COVID-19, has been referred to as a sort of ground-levelling event by some of those in the rare disease community. Otherwise active and healthy individuals have now experienced extended medical isolation and has it has tragically claimed over 1.62 million lives worldwide as of today. 

While the concept of social distancing and the widespread embrace of a more virtual existence has been a difficult adjustment for some, a large group of people, 18 years of age and older, living with rare conditions report that they have been social distancing and living a somewhat mirrored existence to today’s quarantine life long before the world was forced into the new virtual lifestyle.

Unsurprisingly the COVID-19 pandemic has disrupted clinical trials worldwide, forcing many to shut down. Despite the global disruption, a Phase 2 clinical trial evaluating the safety and efficacy of Anavex Life Sciences‘ investigational therapy ANAVEX®2-73 (blarcamesine) in Rett syndrome has completed without disruption.

The promising results from the trial have not only raised excitement from within the Rett syndrome community and the broader autism spectrum community, but also within the wider rare disease advocacy landscape. This is in main, down to Christopher U. Missling, PhD, President and CEO of Anavex, who, during his short video response to the press release announcing the trial’s results claimed, 

Before the pandemic, several community-based stakeholders report that the rare disease advocacy community had an extremely difficult time getting stakeholders in the biopharmaceutical space to consider allocating resources to establish a decentralised approach to clinical trials, let alone design a trial that specifically focuses on rare disease adults with neurodevelopmental disorders. Anavex did both and didn’t need a global pandemic to incentivize them.
 
Now several rare disease community advocates are calling on biopharmaceutical manufacturers to turn directly to the community for unadulterated community-based insights prior to establishing protocols and requirements that are simply unrealistic and burdensome to patients and carers. Additionally, through the Adults Living Rare initiative, the Rare Advocacy Movement has been focused on redirecting some of the advocacy community’s focus towards addressing the needs of adults living with rare diseases, as 71% of people with a rare disease worldwide are 18 years of age or older. 
 
Dr. Missling explains in an exclusive interview, “too many biopharmaceutical companies have been afraid to approach allocating resources to the adult population because there is this misconception that too much time has passed and there is nothing that they can do.”  As a result Dr. Missling and his colleagues at Anavex entered into a collaborative relationship with Rett syndrome community-based advocates from Rettsyndrome.org to design a trial for a neglected adult community. The Anavex team also coordinated with international advocacy organisations including Reverse Rett, Rett UK, Rett Syndrome Association of Australia, Telethon Kids Institute, and Pro Rett to gain a better understanding of the needs of the global Rett syndrome community. Together, Dr. Missling’s team worked with skilled community-based advocates to design a trial for young adult women with Rett syndrome that did not require travel. Even the necessary blood work required to meet the trial’s protocols were taken at the patient’s home.

Because of Dr. Missling’s human-focused approach to clinical trial design, the rare disease advocacy environment now has a success story that is even more evident by the detrimental impact of COVID-19 on the clinical trial environment,
 Sean Gordon of the Rare Advocacy Movement

The rare disease advocacy community is now advising the biopharmaceutical industry to follow the lead of the US-based ANAVEX®2-73 trial and to not shy away from working with neglected adult rare disease populations. The persistent message that continues to resonate out of the Rare Advocacy Movement’s collective efforts is that drug developers can significantly reduce risk when pursuing treatments in neglected rare disease communities. By recognising how vital it is to work directly with community-based advocacy experts to incorporate unadulterated community-based insights into clinical trial design and protocol strategies.
 
As Missling so eloquently puts it in his video response, it is the duty of drug developers to work “towards establishing human-focused protocols and policies” as they work to drive promising pharmaceutical therapies toward commercialisation and market-access.

To read the full press release and find out more about 
​Rare Advocacy Movement (RAM) click below

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