A clinical and laboratory databank for patients with Inborn Errors of Metabolism (VICIEM)
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.
VICIEM databank was created in order 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.
| Study Summary | |
|---|---|
| Study name | A clinical and laboratory databank for patients with Inborn Errors of Metabolism |
| Study abbreviation | VICIEM |
| Current principal investigator/s |
Avihu Boneh |
| Current project manager |
Avihu Boneh |
| Primary Institution/s |
Murdoch Children’s Research Institute - MCRI
|
| Major funding source/s |
The N E Renton Bequest |
| 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). |
| Primary study type | Databank / Biobank |
| Primary participant (at recruitment) | Index child |
| Year commenced |
2013 |
| Is this study ongoing? | Yes - the study is ongoing |
| Ongoing recruitment? | Yes |
| Sample size (N) |
1668 as of November 2021, ~60 new patients per year |
| Survey data available? | No |
| Imaging data available? | Yes |
| Linkage to administrative dataset/s? | No, no consent to link to administrative dataset(s) obtained |
| Biosamples available? | No |
| Are data available to others outside study team, with appropriate safeguards and structures in line with the cohort’s ethics and governance processes? | Yes |
| Are there any costs associated with data/sample access for approved requests? | There are usually no costs associated with access |
| Broadest type of participant consent available |
Extended consent (can be used for future ethically approved research related to this project) |
| Study Contacts | |
|---|---|
| Principal investigator/s |
Avihu Boneh |
| Project manager |
Avihu Boneh |
| Study Contact |
Email: avihu.boneh@mcri.edu.au |