Overcoming Challenges With Novel IMP And Complex Study Designs: Case Study On Wilson Disease Using Gene Therapy

Wilson disease is caused by a deficiency in the ATP7B gene which codes the enzyme for copper transportation. The disease is inherited in an autosomal recessive manner.

Common treatment includes dietary changes (low copper diet) and medications (chelatingagents such as trientine and dpenicillamine and zinc supplements). In extreme situations, liver transplantation can be considered. Very few clinical trials have been conducted to date and most have focused on the use of these medications. However, pioneer clinical trials on gene therapies are now being instigated.

Cmed is initiating a Phase I first in human trial with a European biotechnology company using an adeno-associated viral vector (AAV)-based gene therapy. The patients will receive an ascending dose of the treatment.

Complex studies such as this have challenges in both the set-up and execution phases, for this study in particular there are challenges to do with a gene therapy in a rare disease, and those revolving around the production, delivery and administration of radiopharmaceutical products as an assessment tool.

To overcome the challenge of novel IMP and complex study design robust feasibility and detailed site identification is crucial; sites need to be cognizant of the potential implications for the study participants, study personnel, the community, and the environment.