PTC now seeking US approval of one-time gene therapy Upstaza
Mar 20, 2024 · PTC Therapeutics has submitted its application seeking the approval of Upstaza (eladocagene exuparvovec) — a one-time gene therapy to correct the underlying cause of aromatic L-amino acid decarboxylase (AADC) deficiency — to the U.S. Food and Drug Administration (FDA).
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AADC News is a digital platform intended to provide the aromatic l-amino acid decarboxylase (AADC) deficiency community with the most recent news and information on AADC, as well as first-hand community perspectives from our patient and caregiver columnists.
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Nov 5, 2024 · Check out AADC News’ collection of health insights, where you can find a variety of information relevant for patients and caregivers.
Upstaza (eladocagene exuparvovec) for AADC deficiency - AADC …
Nov 20, 2023 · PTC is running a small Phase 2 trial (NCT04903288) testing a device called SmartFlow Magnetic Ressonance Compatible Ventricular Cannula for use in the administration of Upstaza. Three children with AADC deficiency are receiving doses of 180 billion vg.
What is AADC deficiency? - AADC News
Nov 10, 2023 · Aromatic l-amino acid decarboxylase (AADC) deficiency is a genetic disorder that affects the nervous system, hindering communication between nerve cells. With symptom onset typically in the first year of life, the condition causes developmental delays and movement and behavior problems, as well as issues with involuntary bodily processes.
News Archives – AADC News
Study uncovers genetic mutations linked to milder AADC deficiency. Researchers have uncovered the effects of gene mutations that are associated with mild or moderate forms of aromatic L-amino acid decarboxylase (AADC) deficiency.
Treatments - AADC News
There is currently no cure for AADC deficiency, but there are treatments available to alleviate some of the symptoms and improve patients’ quality of life. What causes AADC deficiency? AADC deficiency is caused by mutations in the DDC gene , which …
The True Prevalence of AADC Deficiency | AADC News
Mar 22, 2022 · AADC awareness, AADC deficiency Diagnosis, medical doctors, misdiagnosis, panel discussion, prevalence, research. While AADC deficiency is rare, columnist Richard E. Poulin III is surprised to learn that the prevalence is much greater than he imagined.
Symptoms of AADC Deficiency - AADC News
Jan 10, 2022 · Learn about the symptoms of AADC deficiency, which appear early in life and include movement disorders, delayed development, and oculogyric crises.
Oculogyric Crises - AADC News
Sep 17, 2019 · Oculogyric crises are a characteristic symptom of aromatic L‐amino acid decarboxylase (AADC) deficiency, a neuromuscular condition caused by a mutation in the dopa decarboxylase (DDC) gene.