After Gene Therapy Research Paper

Orphanet Journal of Rare Diseases Publication

Richard Poulin and Judy Wei joined a team of dedicated professionals to publish a research paper, A position statement on the post gene-therapy rehabilitation of aromatic I-amino acid decarboxylase deficiency patients, in the Orphanet Journal of Rare Diseases.

The paper provides doctors with a pathway following gene therapy. Children with AADC deficiency should receive a few weeks of intensive physical therapy, with additional physical therapy and age-appropriate rehabilitative support in the months and years that follow.

Now that a gene therapy with demonstrated efficacy for AADC deficiency has been approved, there is an urgent need for the development of post-treatment therapy guidelines to maximize motor function improvements following gene therapy. AADC deficiency is extremely rare, and gene therapy is a very recent development; there’s not much hard data to go on, so these recommendations are based mostly on expert opinion and personal experiences.

 

To ensure patients can reach their full potential following treatment with gene therapy, they must receive rehabilitation therapies designed specifically with their impairments and goals in mind.

The research highlights specific rehabilitative needs following gene therapy in our daughter. It proposes a framework based on the experiences of therapists, physicians, and our family involved in treating and caring for Rylae-Ann with AADC deficiency following gene therapy. In addition to being a resource for parents and doctors, we hope future researchers will take our work further to enhance post-gene therapy aftercare.

Skip to content