PTC Therapeutics’ investigational gene therapy PTC-AADC is expected to result in long-term and durable therapeutic benefits in children with aromatic l-amino acid decarboxylase (AADC) deficiency, long-term data from three clinical trials suggest. These findings, along with data from a review study highlighting the increasingly high disease burden of…
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
Scientists discovered four potential protein biomarkers — apolipoprotein D, apolipoprotein H, oligodendrocyte myelin glycoprotein, and collagen6A3 — that may be useful for assessing the severity of certain disorders, including aromatic l-amino acid decarboxylase (AADC) deficiency. In addition to disease severity, these new biomarkers may be valuable…
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is…
The development of new gene therapy to treat people with aromatic L-amino acid decarboxylase (AADC) deficiency has been boosted by an R21 grant awarded by the National Institutes of Health National Advisory Neurological Disorders and Stroke Council…
A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…
Massachusetts is holding its first-ever AADC Deficiency Awareness Day on Oct. 23, according to a press release from PTC Therapeutics, developer of a gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency. The day, recently designated AADC Deficiency Awareness Day in a resolution passed by Massachusetts…
Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…
PTC Therapeutics and Invitae have partnered to launch a free genetic testing program that helps diagnose neurotransmitter disorders, including aromatic l-amino acid decarboxylase (AADC) deficiency, in people who are suspected of having such conditions. Called PTC PINPOINT, the program is designed to ensure expedient…
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