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…
News
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…
A mouse model of aromatic l-amino acid decarboxylase (AADC) deficiency, carrying a frequent mutation in patients with the condition, has been developed for the first time, according to researchers. Findings from this new model indicate that low levels of the neurotransmitter serotonin are associated with characteristic symptoms. The study, “…
The International Working Group on Neurotransmitter Related Disorders (iNTD) has created guidelines for the care of patients with aromatic L-amino acid decarboxylase (AADC) deficiency. Titled, “Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency,” the guidelines were published in Orphanet Journal of…
A new mutation in the DDC gene, the underlying cause of aromatic L-amino acid decarboxylase (AADC) deficiency, has been identified in two Chinese siblings diagnosed with the disease. The case report highlights the need for a wide screen of the Chinese population — which is the most affected by the…
A generalized dopamine deficiency in aromatic L-acid decarboxylase (AADC) deficiency causes some neurons to be overly active, which may contribute to the motor dysfunction associated with the condition, researchers report. A gene therapy that restores brain dopamine levels seems to repair these abnormalities, their study shows. The study, “Electrical…
Patients with only one mutated copy of the DDC gene may present delayed or milder symptoms of AADC deficiency — including behavioral abnormalities as sole manifestations — that often lead to late diagnosis and further complications, a case report shows. The study, “When dysphoria is not a primary…
Antisense oligonucleotides (ASOs) — short nucleic acid molecules used to modulate protein production — can be used to correct abnormal dopa decarboxylase (DDC) processing in cells from patients with aromatic L-amino acid decarboxylase (AADC) deficiency, a new study reports. The study, “Antisense oligonucleotides modulate dopa decarboxylase function in…
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