Article

Evidence-based medicine is a difficult goal to achieve in rare
diseases where randomized controlled trials are lacking.
This report provides
guidelines that capitalize on both the literature and expertise of the French
National Huntington Disease Reference Centre to optimalize pharmacological
therapeutic interventions for Huntington's disease (HD). METHODS: HD experts conducted a systematic analysis of the literature from 1965 to 2013,
using a scoring procedure established by the French National Authority for
Health. These experts offered their views when evidence was missing to set up
provisional guidelines for care in HD. These guidelines were then scored and
amended through two subsequent online questionnaires (using SurveyMonkey(R)
scoring), and one face-to-face meeting with an external multidisciplinary working
group as a step towards validation. RESULTS: Except for the beneficial effects of
tetrabenazine in chorea, none of the published recommendations were grounded on
established scientific evidence. Second-generation antipsychotics are
nevertheless the first choice for patients with psychiatric manifestations (low
level of evidence). All other guidelines are based on low-level evidence and
little professional agreement. CONCLUSION: Patients' care has greatly improved
over the last few years despite the lack of high-level evidence standards.
Guidelines are based on the expertise of trained specialists from the French
National Plan for Rare Diseases. This strategy should now be extended
internationally to promote future studies and to harmonize worldwide care of HD.
CI - Copyright (c) 2016 Elsevier Masson SAS. All rights reserved.

Langue : ANGLAIS