Publications by authors named "Valerie Austin"
Background: Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we aimed to assess the feasibility of prospective measurement of these core outcomes during routine metabolic clinic visits.
Methods: We used existing cohort data abstracted from charts of 124 children diagnosed with MCAD deficiency who participated in a Canadian study which collected data from birth to a maximum of 11 years of age to investigate the frequency of clinic visits and quality of metabolic chart data for selected outcomes.
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Orphanet J Rare Dis
April 2020
Article Synopsis
- The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) involves 14 treatment centers and aims to enhance health outcomes for children with inherited metabolic diseases (IMD) by developing a clinical data collection platform and managing data quality.
- The study collects demographic and diagnostic data from children diagnosed with 31 targeted IMDs, focusing on five prioritized diseases for in-depth longitudinal data, while ensuring data accuracy through user-friendly forms and regular reviews.
- As of June 2019, CIMDRN enrolled 798 participants, achieving a 96% completion rate for minimum data sets, while identifying challenges in data interpretation and organization, but maintaining strong accuracy in disease diagnosis information.
Background: Phenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Early diagnosis and initiation of treatment through newborn screening has gradually shifted treatment goals from the prevention of disabling complications to the optimization of long term outcomes. However, clinical evidence demonstrates that subtle suboptimal neurocognitive outcomes are present in the early and continuously diet-treated population with PAH deficiency.
View Article and Find Full Text PDFBackground: Pyridoxine-dependent epilepsy (PDE) is caused by mutations in ALDH7A1 (PDE-ALDH7A1), which encodes α-aminoadipic semialdehyde dehydrogenase in the lysine catabolic pathway, resulting in accumulation of α-aminoadipic-acid-semialdehyde.
Patient Description And Results: We present a three-year treatment outcome of a child with PDE-ALDH7A1 on pyridoxine (started at age three weeks of age), lysine-restricted diet (started at age seven months), and arginine supplementation therapy (started at age 26 months). He had a markedly elevated urinary α-aminoadipic-acid-semialdehyde (39.