Whole new world

Transformative gene therapy is redefining how we treat certain diseases but – as with any innovative approach – there are challenges afoot.

In many cases, gene therapies are being introduced for the treatment of rare monogenic diseases – conditions caused by a singular faulty or missing gene. There is potential to treat these diseases effectively with a one-time dose, but approval processes for therapies need to meet regulatory standards.

Regulatory and reimbursement decisions are currently made based on certain requirements and standards, e.g. clinical trial data. For traditional therapies, the approval of new treatments considers large data sets. Normally, hundreds to thousands of people are needed for phase 3 registration programmes and the clinical trial process can take years to complete.

In rare diseases, where the unmet need is often great due to grave patient outcomes and limited treatment options, data collection from clinical trials is difficult. The scarcity of patients suffering from rare diseases means there are only small patient populations for clinical programmes. Data shortness is one of the main challenges that can hinder the introduction of potentially life-saving options for patients.

New road map

So, what’s the solution? In addition to continuing robust clinical trials, a supplementary avenue is the application of real-world evidence (RWE).

RWE can help provide additional data for a product where clinical trial data may be limited. We can use RWE to confirm and build on existing data, but also to demonstrate an additional range of treatment outcomes.

In Europe, RWE is becoming a more established method for product assessment alongside clinical trials. For example, while initial approval and reimbursement agreements for gene therapy can be difficult to obtain due to limited clinical trial data, decision makers and physicians are recognising gene therapies as viable treatment choices, based on what they’ve witnessed in the real-world setting.

A notable example has emerged regarding how RWE was used to build upon a recent European consensus paper, which gathered spinal muscular atrophy (SMA) experts across Europe to evaluate data available on the use of a gene therapy.

The experts identified evidence gaps in older and heavier patients, resulting in countries limiting their indications by adding age and weight restrictions. Alerted to this gap, the medical community published its RWE to make more data available for these patients. This RWE is now bridging that gap in an agile way, leading to patient populations gaining access who had not been previously considered for treatment.

RWE has already been published in Hungary, Australia, Germany and Italy, among others, and has become a cornerstone for the evaluation of rare disease treatments in clinical practice. With physicians using RWE to make informed treatment decisions in the best interest of their patients, we must continue working together to establish a clear pathway on the broader use of RWE – pivotally, how regulators and payers can better utilise and accept these types of data in their decision-making process.

We believe that RWE can play an important role in future decision-making processes, including approval and reimbursement, especially in rare diseases and for new treatment modalities like gene therapies.

RWE can supplement clinical data in these disease areas. It is our vision that RWE be utilised in product approval and reimbursement decisions, so that patients can benefit from potentially life-altering treatments with this additional perspective applied.