About the autors and the review
General
The Treatable-ID App was created in 2012 as digital tool to improve early recognition and intervention for treatable inherited metabolic disorders (IMDs) presenting with intellectual disability (‘Treatable IDs’).
In 2021, we updated the original review and the app. These now capture the advances made in the identification of new IMDs along with increased pathophysiological insights catalyzing therapeutic development and implementation.
The review identified 116 treatable IDs (139 genes), of which 44 newly identified, belonging to 17 ICIMD categories. The most frequent therapeutic interventions are nutritional, pharmacological and vitamin and trace element supplementation. Evidence level varied from 1-3 (trials, cohort studies, case-control studies) for 19% and 4-5 (case-report, expert opinion) for 81% of treatments. Reported effects included improvement of clinical deterioration in 62%, neurological manifestations in 47% and development in 37%.
Our Treatable ID endeavor contributes to the Treatabolome and International Rare Diseases Research Consortium goals, enabling clinicians to deliver rapid evidence-based interventions to our rare disease patients. Leaving no one behind.
Eva M.M. Hoytema van Konijnenburg Amsterdam UMC
Saskia B. Wortmann Radboudumc NL & Paracelsus Medical University AU
Marina Johanna Koelewijn Radboudumc NL
Laura A. Tseng Amsterdam UMC
Roderick Houben healtH2Media
Jeff Joa healtH2Media
Sylvia Stöckler-Ipsiroglu University of British Columbia, CA
Carlos R. Ferreira National Institutes of Health, Bethesda, USA
Clara D.M. van Karnebeek Amsterdam UMC & Radboudumc NL
Into the Future
Treatable IMDs are a moving target. The broad implementation of next-generation genomic and metabolomic testing in daily clinical practice has accelerated the diagnostics for many individuals with ID. In parallel, the increasing knowledge about the genetic basis of disease, insights into pathophysiology, and advances in therapeutic and targeting strategies catalyze the ‘Treatabolome’ as a whole; this is true as well for IMDs causing ID.
At the same time, methods for evidence generation with small patient numbers as well as more extensive and longer-term follow-up studies will reveal that some therapeutic interventions initially deemed effective do not alter primary or secondary outcomes. These exciting developments require continuous updates of the Treatable ID App, the ‘Treatabolome’ database, as well as other digital resources.
In parallel, diagnostic protocols ─ whether metabolic or genomic ─ should also be adjusted to prioritize treatable conditions in the diagnostic workup of suspected IMDs and ensure the earliest possible intervention. We encourage clinicians to use our App to facilitate diagnosis and intervention for treatable IDs, and welcome all feedback including treatable IDs we may have missed.
The original version of this tool was published in 2012 as part of the TIDE BC program in Vancouver, Canada.