A clinical tool to aid in diagnosing 81 rare inborn errors of metabolism that are potentially treatable is now being by used by an average of 1200 clinicians and scientists every month.
That’s roughly 200 people who download the free IOS version of the Treatable Intellectual Disability Endeavour (TIDE-BC) app and 1000 monthly visitors to treatable-id.org
"Considering the fact that the app provides information on very rare diseases, and therefor has a limited user-base, these results are very promising and help to improve awareness on treatable intellectual disability worldwide," says Dr. Clara van Karnebeek, Co-Principal Investigator for TIDE BC; Associate Clinician Scientist, CFRI; Associate Member, CMMT; and Clinical Assistant Professor, UBC Department of Pediatrics.
TIDE BC, the first Collaborative Area of Innovation funded by BC Children's Hospital Foundation, is a care and research initiative with a focus on prevention and treatment of intellectual disability.
Treatable-id.org is one of the initiative’s key accomplishments. The site was developed by Dr. van Karnebeek with Roderick Houben, CEO of Health2Media. Of the 1000 people who visit Treatable-id.org every month, roughly 30 per cent are returning visitors and most are from the USA, Canada and Australia. The site was awarded a Health Innovation Prize in 2012.
The IOS app for iPhones and iPads was released in May 2013. It provides quick access to the web version of the Treatable ID tool as well as an overview of the TIDE project including news items, the TIDE protocol and short videos (TIDE Talks).
Most of the healthcare providers and researchers who have downloaded the app are from the USA, Canada and Brazil.
Dr. van Karnebeek, Health2Media and Keiko Ueda, a dietician at BC Children's, are now developing an app suite to support patients on metabolic diets.
Metabolic diets are often the required treatment inborn errors of metabolism such as phenylketonuria (PKU), maple syrup urine disease (MSUD), and pyridoxine dependent epilepsy (PDE). This work is performed in close collaboration with Genetic Metabolic Dietitians International, the leading international metabolic dietitian organisation.
TIDE BC is led by Dr. Sylvia Stockler, Clinical Investigator, CFRI; Professor and Head, Division of Biochemical Diseases, UBC Department of Pediatrics.
For more information, visit tidebc.org or read the article "The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases," from Orphanet Journal of Rare Diseases (2012).