A recent report reviewing the use of gene therapy for Taiwanese patients with aromatic l‐amino acid decarboxylase (AADC) deficiency suggests that such strategies may one day lead to a cure for this condition. The report, “A review of aromatic l‐amino acid decarboxylase (AADC) deficiency in Taiwan,” was…
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term…
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…
Gene therapy using a special type of virus vector to deliver the functional DDC gene is well-tolerated and might improve motor development in children with aromatic l-amino acid decarboxylase (AADC) deficiency in the future, a Phase 1/2 clinical trial shows. The findings of the study, “Efficacy and safety of AAV2…
Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…
A new study has begun to unravel how heterozygous mutations in aromatic l-amino acid decarboxylase (AADC) deficiency patients affect protein function at the molecular level, providing evidence for a complementary function when the mutations R347Q and R358H both are present. The study, “Heterozygosis in aromatic amino acid decarboxylase…
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…
Only 18 months after its initial licensing, Agilis Biotherapeutics‘ gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency has been deemed ready for submission to the U.S. Food and Drug Administration (FDA). Given its rare disease status, with roughly 120 cases of AADC deficiency described to date, this is a “remarkable…
Microstructural changes were observed in brain regions related to language and motor function in children with aromatic L-amino acid decarboxylase (AADC) deficiency, suggesting that this enzyme shortage can influence brain development, researchers have found. Their study, “Microstructural Changes of Brain in Patients with Aromatic L-Amino Acid…
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