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…
Centogene has expanded its partnership with PTC Therapeutics to make its genetic and biomarker testing services — to help diagnose aromatic L-amino acid decarboxylase (AADC) deficiency — available free of charge to people in more countries in Europe, Latin America, and the Middle…
To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
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…
Get regular updates to your inbox.