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).



Year Patient health records review (includes multiple hospital admissions / clinic visits)
1970 – ongoing
Wave Baseline Follow-up(s)
Age Pregnancy
and birth
Infancy and early life
0-3 years
Childhood
3-12 years
Adolescence
13-19 years
Infancy and early life
0-3 years
Childhood
3-12 years
Adolescence
13-19 years
Adulthood
20+ years
# 1417 as of February 2017
Identifiers and miscellaneous
Anthropometrics
Behavioural problems
Birth
Cardiovascular health
Clinical follow-up
Condition specific information
Demographics
General health
Hearing
Imaging
Medications and supplements
Neurocognitive development
Nutrition
Puberty
Reproductive health and pregnancy
Respiratory health
Sleep
Speech, language and literacy
Bioanalyses and omics
Study 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
Primary Institution Murdoch Childrens Research Institute
Major funding sources Australian Communities Foundation
The N E Renton Bequest
Are data available to others outside study team? Yes, in collaboration on a case by case basis and subject to ethics approval
Study focus (e.g. social development) 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)
Study type (e.g. randomised control trial, cohort, case-control) Medical Records Abstraction
Year commenced VICIEM commenced in 2013, but individuals with medical records from 1970 onwards are included in the databank
Ongoing recruitment? Yes
Current sample (N) 1417 as of February 2017
Annual recruitment rate Approximately 60 new patients per year
Intergenerational (e.g. offspring)? No
Imaging (e.g. fMRI, ultrasound, retinal photograph)? Imaging was not conducted, but the VICIEM databank includes imaging descriptive reports; does not include actual imaging
Linkage (e.g. BioGrid, VPDC, NAPLAN, Medicare)? No
Biosamples (e.g. buccal, blood, hair)? No
Ethics approvals or requirements (e.g. specific, extended, unspecified, other)? RCH HREC # 30066B
This is an ‘audit’ project; additional specific ethics approval is required for each publication arising from the databank
Year Age (mean, range) Eligible sample (not deceased, not withdrawn)
1970 – ongoing N/A 1417 as of February 2017

Principal Investigator

Dr Avihu Boneh
Phone: +613 9345 5522
Email: avihu.boneh@rch.org.au

Postal Address

Department of Metabolic Medicine
Royal Children’s Hospital
Flemington Road
Parkville
Victoria, 3052