RESUMO
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a rare disease with urgent need for improved treatment. Despite the acceleration of research in recent years, there is a need to understand the full natural history of the disease. As only 40% of people living with ALS are eligible for typical clinical trials, clinical trial datasets may not generalize to the full ALS population. While biomarker and cohort studies have more generous inclusion criteria, these too may not represent the full range of phenotypes, particularly if the burden for participation is high. To permit a complete understanding of the heterogeneity of ALS, comprehensive data on the full range of people with ALS is needed. METHODS: The ALS Natural History Consortium (ALS NHC) consists of nine ALS clinics and was created to build a comprehensive dataset reflective of the ALS population. At each clinic, most patients are asked to participate and about 95% do. After obtaining consent, a minimum dataset is abstracted from each participant's electronic health record. Participant burden is therefore minimal. RESULTS: Data on 1925 ALS patients were submitted as of 9 December 2022. ALS NHC participants were more heterogeneous relative to anonymized clinical trial data from the Pooled Resource Open-Access ALS Clinical Trials (PRO-ACT) database. The ALS NHC includes ALS patients of older age of onset and a broader distribution of El Escorial categories, than the PRO-ACT database. CONCLUSIONS: ALS NHC participants had a higher diversity of diagnostic and demographic data compared to ALS clinical trial participants.Key MessagesWhat is already known on this topic: Current knowledge of the natural history of ALS derives largely from regional and national registries that have broad representation of the population of people living with ALS but do not always collect covariates and clinical outcomes. Clinical studies with rich datasets of participant characteristics and validated clinical outcomes have stricter inclusion and exclusion criteria that may not be generalizable to the full ALS population.What this study adds: To bridge this gap, we collected baseline characteristics for a sample of the population of people living with ALS seen at a consortium of ALS clinics that collect extensive, pre-specified participant-level data, including validated outcome measures.How this study might affect research, practice, or policy: A clinic-based longitudinal dataset can improve our understanding of the natural history of ALS and can be used to inform the design and analysis of clinical trials and health economics studies, to help the prediction of clinical course, to find matched controls for open label extension trials and expanded access protocols, and to document real-world evidence of the impact of novel treatments and changes in care practice.
RESUMO
BACKGROUND: Puerto Rican adults have higher odds of peripheral artery disease (PAD) compared with Mexican Americans. Limited studies have examined relationships between clinical risk assessment scores and ABI measures in this population. METHODS: Using 2004-2015 data from the Boston Puerto Rican Health Study (BPRHS) (n = 370-583), cross-sectional, 5-y change, and patterns of change in Framingham Risk Score (FRS) and allostatic load (AL) with ankle brachial index (ABI) at 5-y follow-up were assessed among Puerto Rican adults (45-75 y). FRS and AL were calculated at baseline, 2-y and 5-y follow-up. Multivariable linear regression models were used to examine cross-sectional and 5-y changes in FRS and AL with ABI at 5-y. Latent growth mixture modeling identified trajectories of FRS and AL over 5-y, and multivariable linear regression models were used to test associations between trajectory groups at 5-y. RESULTS: Greater FRS at 5-y and increases in FRS from baseline were associated with lower ABI at 5-y (ß = -0.149, P = 0.010; ß = -0.171, P = 0.038, respectively). AL was not associated with ABI in cross-sectional or change analyses. Participants in low-ascending (vs. no change) FRS trajectory, and participants in moderate-ascending (vs. low-ascending) AL trajectory, had lower 5-y ABI (ß = -0.025, P = 0.044; ß = -0.016, P = 0.023, respectively). CONCLUSIONS: FRS was a better overall predictor of ABI, compared with AL. Puerto Rican adults, an understudied population with higher FRS over 5 years, may benefit from intensive risk factor modification to reduce risk of PAD. Additional research examining relationships between FRS and AL and development of PAD is warranted.