Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest

Excerpt

Clinical Practice Guidelines play an important role in the management of inherited metabolic diseases. Effective diagnosis and treatment is a particular challenge for rare diseases requiring specialist knowledge. The increasing availability of highly specific—and highly expensive—treatments for a rapidly growing number of rare conditions adds another dimension to the need for reliable guidelines. In order to justify the high costs of novel treatments it is essential that treatment is evidence-based and provided only to patients who will have a clear benefit. One of the main aims of the JIMD is to support the collation and publication of studies that provide a comprehensive, representative analysis of the clinical features, treatment and outcome of an inborn error of metabolism. The SSIEM’s annual Archibald Garrod Award is given to the lead author of any such publication published in the preceding year in the JIMD. A major benefit of these studies is to provide an evidence base for the formulation of clinical practice guidelines, and the JIMD is very happy to consider such guidelines for publication. …