{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:10:13Z","timestamp":1777857013506,"version":"3.51.4"},"reference-count":31,"publisher":"SAGE Publications","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2021,11,2]]},"abstract":"<jats:p>Rare diseases bring on a heavy health, social and economic burden that impacts patients\u2019 lives and puts pressure on the healthcare system. Furthermore, they are often associated with limited published studies to inform multidisciplinary clinical practice thus limiting evidence-based practice. Moreover, the development of knowledge translation products including clinical care guidelines are often very challenging based on the current available methodological frameworks relying mostly on critical appraisal of the published research evidence where randomized clinical trial design is considered as the gold standard. To overcome this barrier, we proposed the Rare Knowledge Mining Methodological Framework (RKMMF). The RKMMF is one possible answer to improve the development of knowledge translation products for rare diseases. This framework includes other sources of evidence including registry information and qualitative studies and the involvement of expert patients. This article documents the RKMMF structure and its application is exemplified through knowledge translation products developed for a neuromuscular population.<\/jats:p>","DOI":"10.3233\/jnd-200536","type":"journal-article","created":{"date-parts":[[2021,7,7]],"date-time":"2021-07-07T05:28:11Z","timestamp":1625635691000},"page":"1017-1029","source":"Crossref","is-referenced-by-count":5,"title":["The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases"],"prefix":"10.1177","volume":"8","author":[{"given":"C.","family":"Gagnon","sequence":"first","affiliation":[{"name":"Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Int\u00e9gr\u00e9 Universitaire de Sant\u00e9 et de Services Sociaux du Saguenay-Lac-Saint-Jean, Saguenay, Qu\u00e9bec, Canada"},{"name":"Centre de Recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean sur les Innovations en Sant\u00e9, Facult\u00e9 de M\u00e9decine et des Sciences de la Sant\u00e9, Universit\u00e9 de Sherbrooke, Sherbrooke, Qu\u00e9bec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Fortin","sequence":"additional","affiliation":[{"name":"Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Int\u00e9gr\u00e9 Universitaire de Sant\u00e9 et de Services Sociaux du Saguenay-Lac-Saint-Jean, Saguenay, Qu\u00e9bec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.E.","family":"Lamontagne","sequence":"additional","affiliation":[{"name":"Center for Interdisciplinary Research in Rehabilitation and Social Integration, Institut de R\u00e9adaptation en D\u00e9ficience Physique de Qu\u00e9bec, Qu\u00e9bec, QC, Canada"},{"name":"D\u00e9partement de R\u00e9adaptation, Facult\u00e9 de M\u00e9decine, Universit\u00e9 Laval, Qu\u00e9bec, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Plourde","sequence":"additional","affiliation":[{"name":"Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre Int\u00e9gr\u00e9 Universitaire de Sant\u00e9 et de Services Sociaux du Saguenay-Lac-Saint-Jean, Saguenay, Qu\u00e9bec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","reference":[{"issue":"6","key":"10.3233\/JND-200536_ref2","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1002\/ajmg.a.61124","article-title":"The burden of rare diseases","volume":"179","author":"Ferreira","year":"2019","journal-title":"American Journal of Medical Genetics- Part A"},{"issue":"2","key":"10.3233\/JND-200536_ref3","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","article-title":"Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database","volume":"28","author":"Nguengang Wakap","year":"2020","journal-title":"European Journal of Human Genetics"},{"issue":"1","key":"10.3233\/JND-200536_ref4","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1186\/s13023-017-0730-1","article-title":"Health-related quality of life among adults with diverse rare disorders","volume":"12","author":"Bogart","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"10.3233\/JND-200536_ref5","unstructured":"European Union Committee of Experts on Rare Diseases (EUCERD). 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