Details

Autor(en) / Beteiligte

• Shapiro, Elsa
• Bernstein, Jessica
• Adams, Heather R.
• Barbier, Ann J.
• Buracchio, Teresa
• Como, Peter
• Delaney, Kathleen A.
• Eichler, Florian
• Goldsmith, Jonathan C.
• Hogan, Melissa
• Kovacs, Sarrit
• Mink, Jonathan W.
• Odenkirchen, Joanne
• Parisi, Melissa A.
• Skrinar, Alison
• Waisbren, Susan E.
• Mulberg, Andrew E.

Titel

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions

Ist Teil von

• Molecular genetics and metabolism, 2016-06, Vol.118 (2), p.65-69

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2016

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Well-defined and reliable clinical outcome assessments are essential for determining whether a drug provides clinically meaningful treatment benefit for patients. In 2015, FDA convened a workshop, “Assessing Neurocognitive Outcomes in Inborn Errors of Metabolism.” Topics covered included special challenges of clinical studies of inborn errors of metabolism (IEMs) and other rare diseases; complexities of identifying treatment effects in the context of the dynamic processes of child development and disease progression; and the importance of natural history studies. Clinicians, parents/caregivers, and participants from industry, academia, and government discussed factors to consider when developing measures to assess treatment outcomes, as well as tools and methods that may contribute to standardizing measures. Many issues examined are relevant to the broader field of rare diseases in addition to specifics of IEMs. •Evaluating rare disease treatments requires reliable clinical outcome assessments.•Considerations were identified for studies measuring behavior and neurocognition.•Natural history studies can help identify sensitive and specific clinical endpoints.•FDA offers multiple ways to work with the Agency to evaluate measurement tools.•New tools can aid research and treatment of inborn errors of metabolism.