Diabetes mellitus type 1 (disorder)
UNITED - Using Pharmacogenetics to Improve Treatment in Early-onset Diabetes
Year Started: 2010
The UNITED study was a population-based study looking at individuals aged below 50 years, diagnosed with diabetes before the age of 30 years. Typically, such individuals will be diagnosed with Type 1 (T1DM) but a number of these individuals will in fact have a form of monogenic diabetes. Often, these subsets of diabetes respond better to treatments other than insulin, or no treatment at all. UNITED participants underwent a 3 step algorithm with progression to the next step being determined by their results. All participants had an initial UCPCR test, unless their diabetes treatment was diet only (and therefore producing insulin), to measure endogenous insulin. Participants that were UCPCR positive and producing insulin were tested for pancreatic autoantibodies to determine the likelihood of having type 1 diabetes. The final stage of the UNITED pathway was for those with negative autoantibodies and endogenous insulin production to undergo a genetic test for monogenic diabetes. If found to have monogenic diabetes, their diabetes treatment was reviewed and changed as appropriate. The majority of participants had T1DM: of 1875, 131 were found to have T2DM and 60 were found to have some form of MODY.
- Access:
- Open only through collaboration
- Type:
- Disease specific
- Status:
- Completed
- Consent restrictions:
- Other animal work restriction, Xenograft restriction
Associated Data Type | Procurement Timeframe |
---|---|
Biomarker datasets | 0 - 3 months |
Clinical records | 0 - 3 months |
Cold ischemic time | 0 - 3 months |
Followup records | 0 - 3 months |
Freezer temperature logs | 0 - 3 months |
Genomic datasets | 0 - 3 months |
Physiological/biochemical measurements | 0 - 3 months |
Primary care records | 0 - 3 months |
Quality indicators | 0 - 3 months |
Male
Child (6 - 12 years)
101 - 500 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
DNA | -60°C to -85°C | N/A | Not applicable | 0 - 10% | |
Serum | -60°C to -85°C | N/A | Not applicable | 26 - 50% | |
Urine | -60°C to -85°C | N/A | Not applicable | 100% |
Female
Child (6 - 12 years)
101 - 500 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
DNA | -60°C to -85°C | N/A | Not applicable | 0 - 10% | |
Serum | -60°C to -85°C | N/A | Not applicable | 26 - 50% | |
Urine | -60°C to -85°C | N/A | Not applicable | 100% |
Maturity-onset diabetes of the young (disorder)
HARC (Exploring the genetics of renal development disease (HNF1B))
Year Started: 2012
The HARC study looked to compare patients with renal developmental disease due to mutations in the HNF1B gene and those with 17q12 deletions. HNF1B genetic abnormalities are the most common monogenic cause of renal developmental problems, but are also known to cause monogenic diabetes / MODY5. Participants provided urine and serum samples to the biobank, and a minority also undertook MRI scans to look for pancreatic developmental abnormalities.
- Access:
- Open only through collaboration
- Type:
- Disease specific
- Status:
- Completed
- Consent restrictions:
- Other animal work restriction, Xenograft restriction
Associated Data Type | Procurement Timeframe |
---|---|
Biomarker datasets | 0 - 3 months |
Clinical records | 0 - 3 months |
Followup records | 0 - 3 months |
Freezer temperature logs | 0 - 3 months |
Genomic datasets | 0 - 3 months |
Physiological/biochemical measurements | 0 - 3 months |
Primary care records | 0 - 3 months |
Quality indicators | 0 - 3 months |
Male
Child (6 - 12 years)
1 - 10 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
Serum | -60°C to -85°C | N/A | Not applicable | 75% -99% | |
Urine | -60°C to -85°C | N/A | Not applicable | 75% -99% |
Female
Child (6 - 12 years)
1 - 10 donors
Material Type | Extraction Procedure | Storage Temperature | Preservation Type | Macroscopic Assessment | % of Sample Set |
---|---|---|---|---|---|
Serum | -60°C to -85°C | N/A | Not applicable | 75% -99% | |
Urine | -60°C to -85°C | N/A | Not applicable | 75% -99% |