Largest cohort of genetically confirmed patients with GAN, including patients with the classic (early-onset) and milder (late-onset) forms of GAN
Largest cross-sectional analysis highlighted clinical differences in patients with early-onset GAN versus late-onset GAN based on MFM32 performance as well as other functional motor scales and disease markers
Robust assessment across clinical outcomes for GAN, including motor, sensory, respiratory, neurophysiologic, MRI and biopsy data
First clinical study to evaluate a cohort of individuals with GAN for autonomic impairment
On track to report clinical data for TSHA-120 from the 3.5x1014 total vg dose cohort in the second half of 2021
Planning to engage with major regulatory agencies to discuss the approval pathway and expect to provide a regulatory update by year-end 2021
GAN is a progressive neurodegenerative disease that affects both the central and peripheral nervous systems. The disease is caused by loss-of-function mutations in the gene coding for gigaxonin, which results in dysregulation of intermediate filament turnover, an important structural component of the cell. Although no symptoms are present in the first few months of life, many children with GAN do show early symptoms and features before the age of five, including unsteady gait, frequent falls, and motor weakness. Symptoms worsen over time and children develop scoliosis, contractures, atrophy of the spinal cord and abnormalities of the white matter in the brain. Currently, there are no approved treatments for GAN, which results in death for patients in their late teens or early twenties.
In this natural history study, 45 patients, age 3 years to 21 years old, with genetically confirmed GAN were enrolled at
The two sub cohorts of GAN patients in the study included thirty-five patients with early-onset GAN and 10 patients with late-onset GAN. In the early-onset cohort, the mean age of onset of gait or motor impairment was 2.3 years old whereas the mean age of onset of symptoms in the late-onset cohort was 5.4 years old. Motor Function Measure 32 (MFM32), a validated and well-known scale to measure strength and motor function had the strongest correlation across outcome measures and age in patients with GAN. Patients with late-onset GAN had better functional performance compared to similarly aged patients with early-onset GAN. Ambulatory ability between the two phenotypes also differed. Disease progression in early-onset GAN patients occurred in a uniform and homogenous manner. Autonomic manifestations of the disease did not correlate with age or motor function.
“The recent publication in Brain serves as the baseline data for a longitudinal natural history assessment and adds important context to results from three dose cohorts in the ongoing clinical GAN trial,” said
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as “anticipates,” “believes,” “expects,” “intends,” “projects,” and “future” or similar expressions are intended to identify forward-looking statements. Forward-looking statements include statements concerning the potential of our product candidates, including TSHA-120, to positively impact quality of life and alter the course of disease in the patients we seek to treat, our research, development and regulatory plans for our product candidates, TSHA-120’s eligibility for accelerated approval in
SVP, Corporate Communications and Investor Relations