SOUTH PLAINFIELD, N.J., Nov. 16, 2020 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ:PTCT) today announced the presentation of data on two rare diseases, providing new insights on the burden of Aromatic L-Amino acid Decarboxylase deficiency (AADC-d) and Duchenne muscular dystrophy caused by nonsense mutation (nmDMD). The data, presented at the Virtual ISPOR Europe 2020 Conference, further advance the understanding of these rare and devastating childhood genetic disorders, and the need and value of effective treatments.
"PTC has been working with the rare disease community to better understand the impact of rare diseases on patients and their families for over 20 years," said Stuart W. Peltz, Ph.D., Chief Executive Officer, PTC Therapeutics. "These insights are critical so that the best treatments can be made available to patients. PTC is committed to ensuring patients can access clinically differentiated treatments such as our gene therapy for AADC deficiency which, if approved, promises to become the standard of care."
AADC-d associated with high and accumulating disease burden, demonstrating the need for access to an effective therapy
AADC-d is an ultra-rare, genetic disorder that causes severe disability, and the need for 24-hour care and high mortality.1 There is currently no effective disease-modifying therapy approved for patients with AADC-d. PTC-AADC (eladocagene exuparvovec) is the first treatment for AADC-d under regulatory review. The Marketing Authorization Application was submitted to the European Medicines Agency (EMA) in January 2020, and the Committee for Medicinal Products for Human Use (CHMP) opinion is expected in the first half of 2021.
A review of 66 patient case reports found that symptoms of AADC-d that contribute to high disease burden started from birth (in 29 percent of cases) and accumulated over time.2 By age 6, 28 percent of patients were so severely disabled that they experienced symptoms in six core domains.*
Further data from 28 patients who had received PTC's investigational gene therapy, PTC-AADC was presented, including data from three clinical trials with follow-up from one to nine years, predicting the long-term and durable benefits of the therapy,3 including future motor milestone achievement, by using the Peabody Developmental Motor Scales assessment (PDMS-2) score.
New insights into the impact of nmDMD and treatment from patient and carer perspectives4,5,6
nmDMD is a rare and fatal genetic disorder that results in progressive muscle weakness from early childhood, and leads to premature death in the mid-twenties due to heart and respiratory failure.7 PTC provides access to two of the first drugs approved for nmDMD in the world.
This first known qualitative study evaluating real-life patient and caregiver burden showed that nmDMD has a substantial and multi-faceted impact on both patient and caregivers, including physical, emotional, social and time related consequences.4,5,6 As part of the research, several caregivers reported a positive change in their child's condition following initiation with Translarna™ (ataluren) and subsequently an improvement in health-related quality of life (HRQoL).4,5
"These findings reinforce the need for treatments that address the high unmet need in Duchenne muscular dystrophy and the vital spill over benefits that treatments could also provide for families and caregivers. By improving symptoms, reducing loss of function, or delaying disease progression, treatments have the potential to positively impact the health-related quality of life of individuals, families and caregivers living with Duchenne," said Sarah Acaster, Principal Investigator, Acaster Lloyd Consulting Ltd (ALC).