Our son Isaac is a fighter and a trailblazer. Last fall he became the fifth person in the world—and the first in North America—to participate in a phase 1 clinical trial testing a gene transfer treatment for mucopolysaccharidosis type VI (MPS VI).

Isaac was just 18 months old when he was diagnosed with MPS VI, also known as Maroteaux-Lamy syndrome. Patients with this rare, debilitating disorder lack an enzyme that clears toxins from the body. As a result, the toxins build up and cause serious, often crippling health issues. Most patients with MPS VI do not live past their 20s.

The McFadyen family, from left: Gabriel, Ellen, Andrew, and Isaac

Through The Isaac Foundation, our family has worked tirelessly to help find and fund a cure for MPS VI. We have been following and raising money for the gene transfer project since its inception 12 years ago. Each success—promising results in mice, cats, and other animals—was cause for celebration and hope. Still, we hesitated about enrolling our own son in an early-phase clinical trial with unknown outcomes in humans.

Our perspective changed two years ago when we almost lost Isaac and realized we couldn’t wait any longer.

In October my wife and I put our work on hold, Isaac and our younger son left school, and our family moved to Italy for six months so Isaac could receive the investigational treatment. It was difficult and it was scary, but every sacrifice was worth it to have the opportunity to potentially cure our son.

Our work continues

Now we’re back home, and Isaac is doing well. For the first time in his life, he’s thriving and improving. But our work, and that of The Isaac Foundation, is far from over.

We remain committed to moving this gene transfer therapy beyond phase 1 trials and making it available to patients in Canada and elsewhere in North America. On a broader scale, we’re also focused on helping desperately ill patients gain access to investigational gene transfer therapies through existing expanded access pathways.

For decades, the U.S. Food and Drug Administration (FDA) has offered expanded access to investigational products outside clinical trials to patients who have exhausted all other treatment options. A newer U.S. pathway, the Right to Try Act, is intended to provide access to investigational medicines and biologics (not devices). Because this pathway does not require FDA approval or oversight by an institutional review board, it is widely considered to provide fewer safeguards for patients.

Non-trial access to preapproved medical products presents challenges, regardless of the type of therapy. Gene transfer therapy uses a genetically engineered carrier, or vector, to introduce genetic material into cells to compensate for abnormal genes or to make a beneficial protein. The unusual nature of this type of therapy can heighten concerns about patient safety and monitoring, data collection and use, and logistical hurdles for both patients and product manufacturers.

As is often the case with preapproval access and clinical research in general, there’s no way to eliminate risk. But we can take steps to reduce and manage it. FDA, for example, can provide guidance on the use of data gathered in preapproval non-trial settings and the criteria for including (or excluding) those data as part of trial results for gene transfer therapies.

Companies that develop gene transfer therapies should anticipate requests for preapproval access and be ready to respond—with extra doses for the appropriate patient population and with transparent, equitable policies to help ensure fair processes for preapproval access. In addition, these policies and the reasoning behind them should be clearly communicated and easily accessible via company websites and other forums.

To see what access to an investigational therapy can mean to a patient and family, watch our video, The Pass – A Journey of Hope.

Blog post contributor Andrew McFadyen is the founder and executive director of The Isaac Foundation, which funds innovative research projects that aim to find a cure for the rare genetic disorder, MPS. He has served on the board of Clinical Research Pathways and contributed a previous blog post on “The evolution of gene therapy for rare disease patients.”