The development of therapies for mainstream and established diseases is fairly complex, but for rare diseases, these challenges are often more profound due to the small patient pool.

Recent advancements in the development of therapies for rare diseases, such as spinal muscular atrophy (SMA), provide insights into these challenges.

Until recently, patients affected by SMA had no approved therapies to treat the indication, and as such needed to be looked after by a team comprising multiple therapy specialists to help alleviate a wide spectrum of symptoms.

While the approval of Biogen ’s Spinraza (nusinersen) in the US in 2016 and later in the EU and Japan represented a breakthrough moment for those affected by SMA, it also highlighted the set of challenges faced by orphan drugs.

One such challenge is the high cost associated with such therapies, which represents a barrier to their adoption to a wider patient population.

For example, although Spinraza has obtained market approval in the UK, the National Institute for Health and Care Excellence (NICE) currently does not recommend the use of the drug on the National Health System (NHS), citing the lack of its clinical and cost effectiveness.

Funding agencies also state the need to have long-term safety and effectiveness data for these innovative therapies, which was also a concern raised by some of the key opinion leaders (KOLs) interviewed by GlobalData.

It is not just environmental challenges such as those highlighted above that are characteristic of the wider area of rare diseases. The need to gain more insights into the natural history of the disease is considered critical for patient stratification and the definition of relevant outcome measures, both of which are important in conducting clinical trials for the evaluation of these therapies.

While these challenges continue to be prominent, the recent approval of the first-to-market therapy for SMA has also been a positive moment for the field that represents an opportunity for multiple stakeholders to help create a win-win situation for all, most importantly patients.

While none of the current pipeline therapies are expected to directly address the market access issue, discussions between drug developers, regulatory authorities, and funding agencies on how these therapies can be made available to a wider patient population are expected to occur.

These discussions will result in an improved understanding of possible routes to help develop a sustainable funding mechanism for these therapies. Basic knowledge of the disease and its burden is a topic that can be leveraged by clinicians and patient advocacy groups to help educate the payers who may not necessarily understand the implications of a rare disease and its wider cost-impact on the lives of the patients and stakeholders involved in the care process (Lucas, 2018).

Additionally, sharing data and experience from previous trials, including those that failed or have been shelved by commercial drug manufacturers, is a feasible solution. Knowledge from previous trials represents a key challenge in the form of data-confidentiality, which may counter the competitive standing of the companies involved.

Researchers are working toward bridging this gap through recent efforts to enable and standardize data sharing based on the principles of the data being findable, accessible, interoperable, and reusable (FAIR) (Lochmuller et al., 2018).

The creation of patient registries that are specific for SMA represents initiatives that are meant to streamline the efforts to improve and standardize data sharing infrastructures.

One example of this is the SmartCare platform, which collects long-term data of SMA patients seen by healthcare providers in Germany, Austria, and Switzerland (Pechmann et al., 2019).

In the long term, all these efforts to improve access to available clinical data means that researchers will have more insight about previously tested methodologies.

This, in turn, will help to streamline various product developmental efforts, optimize the standards of care, and help shed light on new avenues such as possible biomarkers for the disease.