Synopsis

VICIEM is a clinical and laboratory databank for patients with Inborn Errors of Metabolism (inherited metabolic diseases).  VICIEM consolidates disparate records into a single unified electronic database and includes data on patients treated at the Royal Children’s Hospital (RCH), Melbourne, since 1970.  RCH is a tertiary centre for the diagnosis and management of patients with inherited metabolic diseases from Victoria and Tasmania.  By meticulously collating longitudinal clinical data and outcomes of patients with inherited metabolic disorders, and their causative mutations and biochemical derangements, we aim to develop a better understanding of the natural history of these disorders and provide information that can aid in improving prognostication, effectiveness of newborn screening, cost and effectiveness of treatment (including dietary manipulations), and possibly analyses of the correlation between mutations and clinical outcome, where applicable. It is hoped it will serve as an important step towards devising evidence-based therapies.

Please note: VICIEM is not a traditional longitudinal cohort study, but rather a longitudinal databank that includes retrospective data, based on medical records (including teacher and primary caregiver reports within those medical records where applicable). Recruitment of newly diagnosed patients is ongoing. With the implementation of the new campus EMR system, newly diagnosed patients are partially entered into the VICIEM database for identification purposes (including information pertaining to birth, demographics, diagnosis and presentation).

Summary

Study name A clinical and laboratory databank for patients with Inborn Errors of Metabolism
Study abbreviation VICIEM
Current principal investigator/s Dr Avihu Boneh
Current project manager Dr Avihu Boneh
Cohort representative (study contact) Dr Avihu Boneh
Postal address Department of Metabolic Medicine, Royal Children’s Hospital, Flemington Road, Parkville, Victoria, 3052
Phone +613 9345 5522
Email avihu.boneh@rch.org.au
Primary Institution Murdoch Childrens Research Institute
Major funding sources Australian Communities Foundation; The N E Renton Bequest
Are data available outside study team? Yes, in collaboration on a case by case basis and subject to ethics approval
Study focus The natural history of inborn errors of metabolism (inherited metabolic diseases)
Sampling frame Patients who presented at the Royal Children’s Hospital, Melbourne, for treatment for an inherited metabolic disease (with records from 1970 – ongoing)
Year commenced VICIEM commenced in 2013, but individuals with medical records from 1970 onwards are included in the databank
Commencement sample 1417 as of February 2017
Imaging Imaging was not conducted, but the VICIEM databank includes imaging descriptive reports; does not include actual imaging
Linkage No
Biosamples? No 
Ethics approvals or requirements? RCH HREC # 30066B. This is an ‘audit’ project; additional specific ethics approval is required for each publication arising from the databank.

Waves

Wave Year Age (mean, range) Eligible sample
1  1970 – ongoing N/A  1417 as of February 2017