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Forman J.,Wellington Mail Center | Taruscio D.,National Center for Rare Diseases | Llera V.A.,Fundacion GEISER | Barrera L.A.,Pontifical Xavierian University | And 9 more authors.
Acta Paediatrica, International Journal of Paediatrics

There are more than 6000 rare diseases (defined as affecting <5/10 000 individuals in Europe, <200 000 people in the United States). The rarity can create problems including: difficulties in obtaining timely, accurate diagnoses; lack of experienced healthcare providers; useful, reliable and timely information may be hard to find; research activities are less common; developing new medicines may not be economically feasible; treatments are sometimes very expensive; and in developing countries, the problems are compounded by other resource limitations. Emphasis is required to support appropriate research and development leading to better prevention, diagnosis and treatments of rare diseases. Notably, clinical trials using already existing drugs may result in new, affordable, treatment strategies. Moreover, rare diseases may teach us about common disorders. Conclusions: Countries are encouraged to implement specific research and development activities within their individual capabilities, so that patients worldwide have equal access to necessary interventions to maximize the potential of every individual. © 2012 Foundation Acta Pædiatrica. Source

Gavin P.,National Organization for Rare Disorders
Expert Opinion on Orphan Drugs

Developing a new drug for a disease that affects relatively few people poses unique challenges that do not apply to medical products for more prevalent diseases. One relatively new strategy to help address the special needs of the orphan drug development process is through better understanding the natural progression of rare diseases. This information is then used to facilitate the product development and approval process. National Organization for Rare Disorders (NORD) is actively engaged with the National Institutes of Health and FDA in collaborating on programs to advance the development of increased and improved natural history data. One of the unique contributions that NORD is making is that it is bringing the patient voice to the process of data generation. © 2015 Informa UK, Ltd. Source

Bashaw E.D.,U.S. Food and Drug Administration | Huang S.-M.,U.S. Food and Drug Administration | Cote T.R.,National Organization for Rare Disorders | Cote T.R.,Keck Graduate Institute | And 9 more authors.
Nature Reviews Drug Discovery

A recent US Food and Drug Administration (FDA) advisory committee meeting highlighted the potential of clinical pharmacology to overcome challenges in orphan drug development. © 2011 Macmillan Publishers Limited. All rights reserved. Source

Kishnani P.S.,Duke University | Dickson P.I.,University of California at Los Angeles | Muldowney L.,U.S. Food and Drug Administration | Lee J.J.,U.S. Food and Drug Administration | And 17 more authors.
Molecular Genetics and Metabolism

The US Food and Drug Administration (FDA) and National Organization for Rare Disease (NORD) convened a public workshop titled "Immune Responses to Enzyme Replacement Therapies: Role of Immune Tolerance Induction" to discuss the impact of anti-drug antibodies (ADAs) on efficacy and safety of enzyme replacement therapies (ERTs) intended to treat patients with lysosomal storage diseases (LSDs). Participants in the workshop included FDA staff, clinicians, scientists, patients, industry, and advocacy group representatives. The risks and benefits of implementing prophylactic immune tolerance induction (ITI) to reduce the potential clinical impact of antibody development were considered. Complications due to immune responses to ERT are being recognized with increasing experience and lengths of exposure to ERTs to treat several LSDs. Strategies to mitigate immune responses and to optimize therapies are needed. Discussions during the workshop resulted in the identification of knowledge gaps and future areas of research, as well as the following proposals from the participants: (1) systematic collection of longitudinal data on immunogenicity to better understand the impact of ADAs on long-term clinical outcomes; (2) development of disease-specific biomarkers and outcome measures to assess the effect of ADAs and ITI on efficacy and safety; (3) development of consistent approaches to ADA assays to allow comparisons of immunogenicity data across different products and disease groups, and to expedite reporting of results; (4) establishment of a system to widely share data on antibody titers following treatment with ERTs; (5) identification of components of the protein that are immunogenic so that triggers and components of the immune responses can be targeted in ITI; and (6) consideration of early ITI in patients who are at risk of developing clinically relevant ADA that have been demonstrated to worsen treatment outcomes. © 2015 Published by Elsevier Inc. Source

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