VICIEM: A clinical and laboratory databank for patients with Inborn Errors of Metabolism
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 |
| avihu.boneh@mcri.edu.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 | To develop a better understanding of the natural history of inborn errors of metabolism (inherited metabolic diseases), an important step towards devising evidence-based therapies. |
| 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 | 1668 as of November 2021, ~60 new patients per year. |
| 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 | 1668 as of November 2021 |