News

Most patients with aromatic l-amino acid decarboxylase (AADC) deficiency experience a combination of severe motor symptoms and prominent non-motor symptoms that persist from childhood to adulthood, according to findings from a recent study. Some older patients, however, have milder forms of the disease and are able to walk and sit independently, attend…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

PTC Therapeutics is planning to request U.S. Food and Drug Administration (FDA) approval of PTC-AADC, its investigational gene therapy to treat aromatic l-amino acid decarboxylase (AADC) deficiency, the company announced in a corporate update. The request will be made in the form of a biologics license application to the FDA in…

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…

FFF Enterprises and Bionews announced today that both rare and orphan disease advocates are joining forces to provide patients with resources to help them connect as a community and continue to manage their health during this time when many are finding themselves alone. Recognized as the nation’s leading supplier of…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

Changes in the activity of the enzyme aromatic l-amino acid decarboxylase (AADC) can be assessed through a high-resolution imaging technology called FMT-PET, a new study has confirmed. The study also showed that measuring changes in AADC activity in the brain by FMT-PET — an abbreviation for 6-fluoro-meta-tyrosine positron emission tomography —…

Measuring multiple metabolites at once in a single drop of cerebrospinal fluid (CSF) may hasten the diagnosis of many rare genetic disorders of metabolism that cause neurological problems, including aromatic l-amino acid decarboxylase (AADC) deficiency, research suggests. The new approach, which identified a new biomarker of AADC…