Camille Callais arrived on the St. Jude campus just as the institution launched an initiative to address pediatric neurological diseases.
The Pediatric Translational Neuroscience Initiative (PTNI) grew from a blue-sky idea, an enterprising suggestion from a St. Jude employee that goes through a formal process to be adopted by the institution, into a pillar of the FY22-27 St. Jude Strategic Plan. In 2020, Richard Finkel, MD, joined the institution to lead the Center for Experimental Neurotherapeutics (CENT) within PTNI, a program designed to advance cures for children with catastrophic neurological diseases. Camille and her parents are experiencing the impact of this effort.
Camille has type 2 spinal muscular atrophy (SMA), a genetic condition that leads to muscle weakness that worsens over time. SMA is caused by a mutation in the SMN1 gene, which codes for a protein (SMN) that is critical for normal motor neuron function and survival. Clinician scientists at St. Jude are evaluating the use of SMN-enhancing therapies to stop or slow SMA progression.
Camille is currently enrolled in a clinical trial, DEVOTE, to evaluate the use of an SMN-enhancing drug. Her parents, Brandon and Casie, have already seen improvements in Camille since she started the first round of the trial.
“We are thankful that St. Jude is venturing into neuromuscular disorders, and we are happy to be part of a study that can not only help our daughter but also help others with similar disorders,” Casie said.
Finkel is similarly optimistic about the prospect of the clinical research being conducted in CENT.
“Although Camille has been able to stand for some time, she has never been able to walk,” he said. "She is currently on the cusp of walking, and I want to be there for her first step."
For decades, St. Jude clinicians and researchers have sought cures for catastrophic diseases such as cancer, sickle cell and HIV. The institution’s scientific expertise, infrastructure and clinical experience make St. Jude uniquely suited to address pediatric neurological diseases like SMA and help patients like Camille.