Skip Therapeutics is teaming up with the Sheba Medical Center in Israel to develop antisense oligonucleotides (ASOs), a type of therapy that can change a given gene’s activity, for rare diseases with a genetic basis. ASOs can be tailored to address specific genetic mutations, offering a bespoke treatment…
Although AADC deficiency is characterized by low levels of signaling molecules in the brain that impair its normal function, the disease may also cause neurodegeneration, a study suggests. Understanding how the disease may result in the gradual dysfunction, and ultimately death, of brain nerve cells could open up new…
PTC Therapeutics will meet with the U.S. Food and Drug Administration (FDA) in December to review the data the company intends to include in a regulatory application seeking the approval of its gene therapy Upstaza (eladocagene exuparvovec) for aromatic l-amino acid decarboxylase (AADC) deficiency. The meeting is expected…
The patient-centered healthcare data generation company PicnicHealth has acquired AllStripes, a platform that’s focused on gathering clinical evidence of people with rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. With the acquisition, PicnicHealth aims to its expand patient-centered strategies intended to help in the…
The National Organization for Rare Disorders (NORD) is offering a new education series to help patients understand how treatments are developed and encourage them to take part in the process, the goal being to create better therapies for rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. Its…
Treatment with Upstaza (eladocagene exuparvovec) is estimated to prolong survival and lead to life quality gains for aromatic l-amino acid decarboxylase (AADC) deficiency patients relative to standard supportive care. These are the findings of a recent study that used existing clinical data to model possible long-term outcome trajectories…
The U.S. Food and Drug Administration (FDA) has launched a pilot program, dubbed START, to accelerate the development of therapies for rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. Called, in full, the Support for clinical Trials Advancing Rare disease Therapeutics Pilot Program, the START initiative will…
Global rare disease organizations emphasized the importance of universal health coverage (UHC) for people with rare diseases during a side event to a meeting of United Nations (UN) member states to accelerate progress toward the goal of univeral coverage by 2030. The event, titled “A Blueprint for Leaving…
About three-quarters of children and adults with aromatic l-amino acid decarboxylase (AADC) deficiency on standard care fail to meet any key motor milestones, according to a patient registry analysis. People with the condition exhibited a wide range of symptoms that affected several bodily systems, the most common being developmental…
The AADC enzyme can undergo a process called phosphorylation at a specific molecular site to increase its activity, a study shows. These findings provide deeper insight into the functionality of this enzyme, and may help scientists to better understand the effects of certain specific mutations that cause AADC deficiency.
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