The Critical Path Institute (C-Path) has announced a public-private partnership seeking to accelerate the development of safe and effective treatments for rare diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency. The partnership, called the Rare Disease Clinical Outcome Assessment (COA) Consortium, will attempt to identify scientifically sound ways to…
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…
Global Genes, a worldwide non-profit, is seeking to support in-person meet-ups that provide access to educational resources and assistance for patients, caregivers, and advocates for rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency. Under the group’s 2022 RARE Meet-Ups Impact Grant program, U.S.-based support groups…
The National Organization for Rare Disorders (NORD) asks Americans to plan ahead to participate in the Light Up for Rare campaign to raise awareness of rare diseases. NORD is the U.S. sponsor for Rare Disease Day on Feb. 28. The annual awareness day spotlights approximately 7,000…
A trio of researchers in the U.K. has calculated health utilities for AADC deficiency, a quantitative measure of health value that will be useful for assessing the economic health value of future treatments. Results were published in the study “Eliciting health state utilities for Aromatic L-amino…
Anxiety and distractibility are among the most common problems reported by people living with AADC deficiency and other disorders that affect neurotransmitter production, according to a new study. Results also highlighted that children with these conditions often view their quality of life more favorably than their parents do. “A…
The investigational gene therapy PTC-AADC (eladocagene exuparvovec) provides lasting and meaningful improvements in motor and cognitive function in children with aromatic l-amino acid decarboxylase (AADC) deficiency, updated results from three clinical trials show. The greatest improvements were observed in the youngest of the 26 treated children — none of…
A new method has been developed that detects two biomarkers associated with aromatic l-amino acid decarboxylase (AADC) deficiency in dried blood spots at the same time, a study reveals. This method for simultaneously identifying these separate disease biomarkers was found to be accurate and precise — and can be…
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…
Two sisters with unusually mild cases of aromatic L-amino acid decarboxylase (AADC) deficiency were described in a recent report. “Our patients may show the most attenuated [mild] type of AADC deficiency. This indicates the importance of ruling out the possibility of AADC deficiency in patients who present with similar…
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