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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…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

A gene therapy consisting of a viral vector carrying the DDC gene improved motor and cognitive functions in children with AADC deficiency, according to a Phase 1/2 trial. The study, “Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency,” was published in Brain.

G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 means Dravet syndrome. All three designations became official on Oct. 1, 2018, joining some 70,000 other diseases listed in the latest iteration of the International Classification of Disease (ICD). Known…

The U.S. Food and Drug Administration (FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history — how disorders such as spinal muscle atrophy (SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical…