Establishing a clinic-based XXXX research registry in Quebec.

@entity1 @entity788 @entity1124 @entity5 @entity74
BACKGROUND: Enrolling @entity1 in studies of @entity1124 ( @entity1124 ) is challenging because of the high fatality of the disease. We hypothesized that a prospective clinic-based study with rapid ascertainment would result in high participation rates. Using that strategy, we established the @entity788 Study (qpcs) to investigate the genetics and causes of @entity1124 and other @entity5 ( @entity5 ) that are also rare and underrepresented in research studies. METHODS: @entity1 diagnosed with @entity1124 or pat were introduced to the study at their initial clinical encounter, with a strategy to enrol @entity1 within 2 weeks of diagnosis. @entity1 self-referrals and referrals of unaffected individuals with an increased risk of @entity1124 were also accepted. Family histories, epidemiologic and clinical data, and biospecimens were collected. Additional relatives were enrolled in families at increased genetic risk. RESULTS: The first 346 completed referrals led to 306 probands being enrolled, including 190 probands affected with @entity1124 , who represent the population focus of the qpcs. Participation rates were 88.4% for all referrals and 89.2% for @entity1124 referrals. Family history, epidemiologic and clinical data, and biospecimens were ascertained from 91.9%, 54.6%, and 97.5% respectively of @entity1 with @entity1124 . Although demographics and trends in risk factors in our @entity1 were consistent with published statistics for @entity1 with @entity1124 , the qpcs is enriched for families with French-Canadian ancestry (37.4%), a population with recurrent germ-line mutations in @entity74 . CONCLUSIONS: Using rapid ascertainment, a @entity1124 and pat research registry with high participation rates can be established. The qpcs is a valuable research resource and its enrichment with @entity1 of French-Canadian ancestry provides a unique opportunity for studies of heredity in these diseases.
