Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…
News
Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…
Children with aromatic l-amino acid decarboxylase (AADC) deficiency experience a wide range of symptoms and difficulties in day-to-day activities, which can have substantial affects on their quality of life, a study based on interviews with caregivers reported. This is the first published scientific study to explore the qualitative experience…
Recently-characterized mutations that have been associated with mild AADC deficiency cause some alterations to the AADC protein, but do not drastically alter the protein’s structure, according to a new analysis. The data were presented at the WebPro meeting this May in a poster, titled “Compound…
Caregivers of children with aromatic l-amino acid decarboxylase (AADC) deficiency spend the bulk of their days providing care, with most needing additional help and having to quit their jobs or greatly reduce working hours, according to responses to a questionnaire developed by PTC Therapeutics. “As with so many rare…
Using PTC-AADC gene therapy in children with aromatic l-amino acid decarboxylase (AADC) deficiency was found to be relatively safe and led to improvements in motor function, cognitive abilities, and breathing, a review of six clinical trials found. The therapy also showed benefits in feeding, mood, and sleep among…
Examining cerebrospinal fluid — the liquid surrounding the brain and spinal cord — remains the best way to diagnose aromatic L-amino acid decarboxylase (AADC) deficiency, a recent study confirms. The investigation also found that measuring treatment response by routinely re-examining this fluid appears unnecessary, and that certain molecules found…
A viral vector-delivered gene therapy can restore the activity of the AADC enzyme in people with AADC deficiency for at least two years, research drawing on clinical trial data shows. Findings were in the study “Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic L-amino…
More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…
The investigational gene therapy PTC-AADC improved motor function in children with aromatic l-amino acid decarboxylase (AADC) deficiency in several clinical studies, new data show. These findings were presented at this year’s American Academy of Neurology annual meeting by Mark Pykett, PhD, the chief scientific officer of PTC…
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