The evolution of gene therapy for rare disease patients

The evolution of gene therapy for rare disease patients

(The following guest post is from Andrew McFadyen, who recently joined the Clinical Research Pathways Board of Directors.)

Hope is here, if only we can access it
The evolution of gene therapy for rare disease patients

Patients and families affected by rare diseases define hope in a very different way from the dictionary. We are fighting against the odds, so for us hope is much more than a wish, desire, or expectation. Instead, hope is a mission, a road map, and a driving force—a beacon of light in the distance, guiding the way along a difficult and heart-wrenching journey.

Sometimes, hope is all we have.

And sometimes—as in the case of gene therapy—hope can give rise to possibility.

What began decades ago as only a glimmer of hope—the possibility of cures for debilitating and devastating rare diseases—is rapidly becoming a reality as more and more clinical trials for gene therapy start to enroll patients. There are currently almost 1,000 gene therapy projects working their way toward market approval. The vast majority are for patients suffering from devastating conditions for which there are no other treatments.

Whether these gene therapy approaches are truly curative remains to be seen. However, early indications from some of these trials and from Food and Drug Administration (FDA)-approved therapies are clear: Gene therapy is transforming the course of disease for patients most in need. For instance, patients battling spinal muscular atrophy (SMA) are seeing greatly improved outcomes if they begin treatment with an approved, novel gene therapy treatment called Spinraza[i]. Patients with hemophilia are seeing “mind-blowing results” from gene therapies in clinical trials[ii]. For patients battling mucopolysaccharidosis (MPS), early clinical trial data indicate a dramatic improvement in the outlook and course of the disease[iii].

In essence, hope is here, or very close, for a host of rare disease patients. Hope is here, that is, if patients can gain access to these therapies in an equitable and expeditious fashion.

Barriers to such access will be numerous and must be addressed by the pharmaceutical industry, payers, patient advocacy organizations, and regulatory authorities alike. For example, the high cost of Spinraza is creating a challenge for patients in Canada to gain access through the publicly funded health care system. In addition, the manufacturer and the provincial governments have not been able to agree on a reimbursement plan that provides wide access to this potentially life-saving drug. Such challenges will be experienced on a broader scale as gene therapies hit the market at a rapid pace, most likely at a price that far exceeds what we’ve seen so far for rare-disease treatments.

Likewise, clinical trials using adeno-associated viruses (AAV) often require patients to live close to clinical trial sites for follow-up blood work and monitoring. Uprooting family, taking a leave from work commitments, and finding the financial means to pay for accommodations, etc., are real barriers for patients who do not live near these locations, often resulting in the inability of patients to participate in clinical trials. This leads to unequal access to these trials for many patients. Those who live close to sites have easier access, and those who can afford the added financial stress and can relocate gain access over those who cannot.

Converting hope to reality for patients comes with a responsibility to ensure that hope is accessible for all patients in need. It’s imperative that any and all barriers to such access be removed collaboratively with all stakeholders.

For hope to truly be here, we must all work together to advance access to clinical trials and to ensure that approved therapies are affordable and expeditiously made available to patients in need. Without such collaboration, that hope we’ve all been waiting for—that glimmer of light in the distance—will fade quickly.

[i](n.d.). Evaluation of Children with SMA Type 1 Under Treatment … – IOS Press. Retrieved August 1, 2018, from

[ii] (2017, December 14). “Mind-blowing results” from gene therapy trial point to a … – New Atlas. Retrieved August 13, 2018, from

[iii] “Gene therapy: First results in children with Sanfilippo B syndrome ….” 20 Jul. 2017, Accessed 13 Aug. 2018.

Andrew McFadyen
Founder and Executive Director
The Isaac Foundation
Equal Access for Rare Disorders




2018-09-10T10:13:12+00:00August 23, 2018|General|