MyRareDiet: A Diet Tracking, Monitoring and Optimization mHealth Solution for Patients with Inborn Errors of Metabolism - Project Abstract
Inborn errors of metabolism (IEM) are a group of rare genetic (inherited) disorders that cause a block in a
metabolic pathway leading to clinically significant consequences, causing developmental and intellectual
disabilities, seizures, and, if untreated, coma and death. The majority of the IEM disorders are managed by
manipulation and modification of diet alone to reduce toxic metabolites, or with a combination of dietary
modification and medications. The complex dietary therapies used in IEM challenge routine dietary
recommendations and render diet apps designed for the general public of little utility in these conditions. Also,
no diet app is developed specifically for the IEM community and meets the rigor required for research,
particularly the need to measure specific and multiple amino acid content in the diet to facilitate more study on
impact on brain neurochemistry. Within the field of IEM, paper diet diaries are utilized to monitor food intake.
These diaries are frequently inadequate in capturing what is actually being consumed due to recall errors and
other factors. Novel methods of assessing dietary intake are required to reduce the diet tracking burden,
improve accuracy in dietary surveys, and improve diet adherence.
We propose to develop and validate MyRareDiet® (MRD) to address an unmet need in the IEM population to
assist with dietary management designed to increase adherence and compliance that could lead to improved
outcomes, while facilitating the collection of dietary data from individuals with IEM for research purposes. MRD
includes a Patient Portal, a Clinical Dietician Portal, and a Researcher Portal. The Patient Portal is to help IEM
patients track and monitor their own diet so they can meet their strict diet targets and restrictions. The Clinical
Dietician Portal is to help clinical dieticians manage diet modifications for individuals with IEM. The Researcher
Portal is to facilitate the conduct of diet-based studies and the analysis of study results.
The aims for Phase II are: 1) enhance and refine the Phase I MRD prototype by adding features to improve
diet reporting accuracy and reduce user burden; 2) conduct a criterion validity study to test the agreement
between MRD and a widely used and validated interview-based 24-hour recall method; and 3) conduct a
randomized controlled trial to assess the effects of using MRD on participants’ diet tracking and monitoring
behaviors. Our hypotheses are that compared to paper diet diaries, the use of MRD will result in 1) higher
satisfaction with greater adherence to self-reporting of dietary intake; and 2) protein consumption more closely
aligned to protein restriction target.
