Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population.

The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials.

The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner.

Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.

To validate an FFQ for the assessment of dietary EPA and DHA against their relative concentrations in red blood cells (RBC).

Cross-sectional analysis of baseline data. Intakes of marine food products and EPA and DHA were estimated by FFQ on the basis of consumption of marine food products in the last month. Fatty acid composition of RBC membranes was quantified by GC.

Saint-François d’Assise Hospital, Québec, Canada.

A total of sixty-five middle-aged women who participated in a randomized clinical trial.

Spearman’s correlation coefficient between intake of EPA, DHA and EPA + DHA and their corresponding concentration in RBC was 0·46, 0·40 and 0·42, respectively (all P < 0·05). Multiple regression analysis of EPA+DHA intake and RBC EPA + DHA concentration indicated positive and significant correlations for oily fish (β = 0·44, 95 % CI 0·16, 0·72, P = 0·0027), total fish (β = 0·42, 95 % CI 0·19, 0·64, P = 0·0005) and marine food products (β = 0·42, 95 % CI 0·20, 0·64, P = 0·0003). No other marine food products significantly predicted RBC EPA + DHA concentration.

Although the present validation study was undertaken among middle-aged women with low consumption of marine food products (<3 servings/week), our FFQ provided estimates of EPA and DHA intakes that correlated fairly well with their RBC concentrations. However, the absence of correlations between EPA + DHA intakes from different marine species suggests that a minimum EPA + DHA intake is necessary to observe a relationship with RBC EPA + DHA concentrations.