SOUTH PLAINFIELD, N.J., Nov. 16, 2020-- 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. These insights are critical so that the best treatments can be made available to patients. 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.[i] There is currently no effective disease-modifying therapy approved for patients with AADC-d. 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.[ii] By age six, 28 percent of patients were so severely disabled that they experienced symptoms in six core domains.2*  New insights into the impact of nmDMD and treatment from patient and carer perspectives [i],[ii],[iii] 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.[i] 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.3,4,5 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. About aromatic L-amino acid decarboxylase deficiency (AADC-d) AADC-d is an ultra-rare, genetic, life-shortening disorder that causes severe disability and ongoing physical and mental suffering from the first few months of life, with many reliant on feeding tubes or breathing support to survive, and life-long, 24-hour care.1 AADC deficiency leads to delays or failure to reach developmental milestones, such as head control, sitting, standing, walking, or talking, low muscle tone (also known as muscular hypotonia), severe, seizure-like episodes involving involuntary eye movement (also known as oculogyric crises), autonomic abnormalities, and the need for life-long care.1 Significant health issues include infections, orthopedic and cardiac complications, and other comorbidities. About Duchenne Muscular Dystrophy Primarily affecting males, Duchenne muscular dystrophy (Duchenne) 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. It is a progressive muscle disorder caused by the lack of functional dystrophin protein. Dystrophin is critical to the structural stability of all muscles, including skeletal, diaphragm, and heart muscles. Patients with Duchenne can lose the ability to walk as early as age ten, followed by loss of the use of their arms. Duchenne patients subsequently experience life-threatening lung complications, requiring the need for ventilation support, and heart complications in their late teens and twenties. About PTC Therapeutics, Inc. PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need.
[1] Wassenberg. T, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12:12.
[1] BakidouA, Werner C, Buesch K. Age at onset and frequency of clinical signs and symptoms in patients with AADC deficiency: A systematic literature review. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020. [1] Williams K, Buesch K, PiglowskaN, Davidson I, RanceM, BoehnkeA, AcasterS. The development of a conceptual model on the impact of caring for an individual with nonsense mutation Duchenne Muscular Dystrophy. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020. [1] Williams K, Buesch K, PiglowskaN, AcasterS. Symptoms and impacts of nonsense mutation Duchenne Muscular Dystrophy: A qualitative study and the development of a patient-centredconceptual model. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020. [1] Williams K, Buesch K, Piglowska N, Davison I, Rance M, Boehnke A, Acaster S. Symptoms and impacts of nonsense mutation Duchenne Muscular Dystrophy at different stages of ambulation. Poster to be presented at the ISPOR Europe Annual Meeting; November 16-19, 2020 [1] Van Riuten H, Bushby K, Guglieri M. State-Of-The-Art Advances in Duchenne Muscular Dystrophy. EMJ. 2017;2[1]:90-99.
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