While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…
The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…
Systematic analysis of non-invasive MRI brain scans of people with aromatic l-amino acid decarboxylase (AADC) deficiency identified disease-related changes in brain structure, which may help diagnose the disorder and related conditions, a study suggests. The study, “…
Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…
Screening genomic databases for disease-causing mutations could help identify people with possible aromatic l-amino acid decarboxylase (AADC) deficiency or other rare diseases, a study suggests. The findings were shared in a poster (no. 087), “Identification of individuals with likely AADC deficiency based on DDC variation in…
Butterflies, ballerinas, and abstract flowers are featured among the winning artwork of this year’s Rare Artist contest, hosted by the EveryLife Foundation for Rare Diseases to heighten awareness about rare disease communities and salute the creativity of its members. Awardees will be able to display their art and…
PTC Therapeutics is preparing to launch PTC-AADC, its experimental gene therapy for aromatic l-amino acid decarboxylase (AADC) deficiency, the company has announced in a press release. Among other launch efforts, the company is expanding its genetic testing program, while finding and preparing expert pediatric neurosurgical centers.
The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…
The annual EURORDIS Photo Award contest is inviting people worldwide to visually express what life is like with a rare disease, while raising awareness through their work of these disorders. Submissions for next year’s awards are open until Jan. 31. The competition is organized by France-based EURODIS, an alliance…
PTC Therapeutics has developed and validated tools to help assess health-related quality of life (HRQoL) in people with aromatic l-amino acid decarboxylase (AADC) deficiency. In addition, these health tools are expected to help determine the cost-effectiveness ratio of future treatments for this rare genetic disease. The new tools…
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