The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…
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The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
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Dantrolene Can Prevent Severe Muscle Problems in Children With AADC Deficiency, Case Report Shows
Dantrolene can prevent the destruction of damaged muscle tissue associated with crises of widespread involuntary muscle contractions in children with aromatic l-amino acid decarboxylase (AADC) deficiency, according to a recent case report. The case report study, “Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two…
A range of disease presentations, and of underlying genotypes, were observed in a study of aromatic l-amino acid decarboxylase (AADC) deficiency cases in mainland China. These findings broaden the known clinical signs associated with AADC deficiency, and they hint at connections between genotypes and disease course. The study, “…
Mutations discovered in the past five years that cause aromatic amino acid decarboxylase (AADC) deficiency affect the functioning of the AADC protein in previously unappreciated ways, namely promoting aggregation and preventing interactions among AADC protein pairs, a molecular study demonstrates. The new mechanisms identified in the study light the…
PTC Therapeutics is seeking approval of PTC-AADC, a gene therapy candidate to treat aromatic l-amino acid decarboxylase (AADC) deficiency, from the European Medicines Agency (EMA), the company announced in a corporate update. Its application is among the highlights from 2019 that the company will present at…
A new technique using dried blood spots could help in the diagnosis of aromatic L-amino-acid decarboxylase (AADC) deficiency and may be especially useful in newborn screening, a study demonstrates. The study, “High throughput newborn screening for aromatic L‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa…
With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.
PTC Therapeutics has launched a program to deliver — at no cost — blood tests that can help diagnose aromatic L-amino acid decarboxylase (AADC) deficiency, the company announced. AADC deficiency, a genetic and neurometabolic disease, is caused by mutations in the gene DDC, which codes for the…
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