A less invasive airway device — called a supraglottic airway device or SAD — was found to safely and effectively maintain breathing in pediatric patients with aromatic L-amino acid decarboxylase (AADC) deficiency during general anesthesia, according to a small study in Taiwan. These SADs were used for children with…
The gene therapy Upstaza (eladocagene exuparvovec), formerly PTC-AADC, has been recommended for approval in the European Union for patients, ages 18 months and older, with severe aromatic l-amino acid decarboxylase (AADC) deficiency. The favorable opinion was made by the Committee for Medicinal Products for Human Use (CHMP),…
Centogene has launched CentoCloud, a cloud-based platform designed to allow decentralized analysis and interpretation of an individual’s genetic data, thereby providing fast diagnostic insights and medical reports. Reported to be powered by proven bioinformatic pipelines and the world’s largest rare disease-centric bio/databank, this software-as-a-service platform is expected to…
Researchers have developed and validated new tools to help evaluate health-related quality of life, or HRQoL, in people with aromatic l-amino acid decarboxylase (AADC) deficiency. These tools can be used to assess the cost-effectiveness ratio of future treatments, according to the team. The study, “A Discrete…
Delivering the investigational gene therapy PTC-AADC to a specific part of the brain, called the putamen, was found to significantly and effectively lessen motor and non-motor symptoms in children with aromatic L-amino acid decarboxylase (AADC) deficiency, a review-like study highlights. “Before this treatment, the children with AADC deficiency…
Caregivers of children with aromatic l-amino acid decarboxylase (AADC) deficiency spend the bulk of their days providing care, with most needing additional help and having to quit their jobs or greatly reduce working hours, according to responses to a questionnaire developed by PTC Therapeutics. “As with so many rare…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
PTC Therapeutics has developed and validated tools to help assess health-related quality of life (HRQoL) in people with aromatic l-amino acid decarboxylase (AADC) deficiency. In addition, these health tools are expected to help determine the cost-effectiveness ratio of future treatments for this rare genetic disease. The new tools…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
PTC Therapeutics’ investigational gene therapy PTC-AADC is expected to result in long-term and durable therapeutic benefits in children with aromatic l-amino acid decarboxylase (AADC) deficiency, long-term data from three clinical trials suggest. These findings, along with data from a review study highlighting the increasingly high disease burden of…
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