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Trial registered on ANZCTR

Registration number
Ethics application status
Date submitted
Date registered
Date last updated
Type of registration
Prospectively registered

Titles & IDs
Public title
An investigation into heterozygosity for glycogen storage disease as a possible cause of glycogenic hepatopathy in type 1 diabetes
Scientific title
An investigation into heterozygosity for glycogen storage disease as a possible cause of glycogenic hepatopathy in type 1 diabetes
Secondary ID [1] 292490 0
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Type 1 diabetes 304123 0
Glycogenic hepatopathy 304124 0
Glycogen storage disease 304125 0
Condition category
Condition code
Metabolic and Endocrine 303453 303453 0 0
Metabolic and Endocrine 303454 303454 0 0
Metabolic disorders
Oral and Gastrointestinal 303455 303455 0 0
Other diseases of the mouth, teeth, oesophagus, digestive system including liver and colon

Study type
Description of intervention(s) / exposure
Blood sample taken at enrolment for gene panel for glycogen storage diseases, to determine whether there is an association between glycogen storage disease and glycogenic hepatopathy in a population with type 1 diabetes. Trial follow up will only be to inform patients the result of gene testing. Patients will receive ongoing clinical follow up for their glycogenic hepatopathy and type 1 diabetes irrespective of results of gene studies.
Intervention code [1] 298670 0
Diagnosis / Prognosis
Intervention code [2] 298700 0
Early detection / Screening
Comparator / control treatment
No control group
Control group

Primary outcome [1] 302826 0
Presence of heterozygosity for glycogen storage disease per gene panel testing on a blood sample.
Timepoint [1] 302826 0
At enrolment
Secondary outcome [1] 337171 0
Timepoint [1] 337171 0
At enrolment into study
Secondary outcome [2] 337172 0
Serum lactate
Timepoint [2] 337172 0
At enrolment into study

Key inclusion criteria
Inclusion criteria:
• Type 1 diabetes
• Glycogenic hepatopathy either:
• Identified on liver biopsy (pathologic overloading of hepatocytes with glycogen) or
• Suspected clinically based on hepatomegaly on hepatic imaging, plus transaminases elevated greater than two times the upper limit of normal, plus elevated serum lactate persistent for more than 1 week

Minimum age
8 Years
Maximum age
70 Years
Both males and females
Can healthy volunteers participate?
Key exclusion criteria
• Another known cause of chronic liver disease
• Elevated transaminases attributable to another cause
• Do not consent to participate, or parent does not consent to participate in the case of a legal minor.

Study design
Purpose of the study
Allocation to intervention
Non-randomised trial
Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
Methods used to generate the sequence in which subjects will be randomised (sequence generation)
Masking / blinding
Open (masking not used)
Who is / are masked / blinded?

Intervention assignment
Single group
Other design features
Not Applicable
Type of endpoint(s)
Statistical methods / analysis
This is a pilot study recruiting approximately 10 patients from the Mater and LCCH. Pathogenic variants for GSDs are well defined. If all the forms of GSD are combined, GSD frequency is estimated to occur in the general population at a frequency of less than 1:10000. This corresponds to a carrier frequency of less than 1:50. A likely pathogenic mutation predicts 95-99.9% chance that the mutation is causative. Thus there is a 20% chance that a pathogenic mutation would occur by chance in one of our ten patients. Thus far the literature on type 1 diabetes and carrier status for GSD presenting with glycogenic hepatopathy consists of a single case. 10 cases will add substantially to current knowledge, and will aid in guiding further research.

Recruitment status
Not yet recruiting
Date of first participant enrolment
Date of last participant enrolment
Date of last data collection
Sample size
Accrual to date
Recruitment in Australia
Recruitment state(s)
Recruitment postcode(s) [1] 16684 0
4101 - South Brisbane

Funding & Sponsors
Funding source category [1] 297058 0
Name [1] 297058 0
Mater Foundation
Address [1] 297058 0
Mater Hospital, Raymond Terrace, South Brisbane, Qld, Australia 4101
Country [1] 297058 0
Primary sponsor type
Dr Stephanie Teasdale
Queensland Diabetes and Endocrine Centre, Level 2 Annerley Road Campus, Annerley Road, Mater Hospital, South Brisbane, Qld 4101
Secondary sponsor category [1] 296063 0
Name [1] 296063 0
Mater Hospital
Address [1] 296063 0
Mater Hospital, Raymond Terrace, South Brisbane, Qld, Australia 4101
Country [1] 296063 0

Ethics approval
Ethics application status
Ethics committee name [1] 298242 0
Mater Misericordiae Ltd Human Research Ethics Committee (EC00332)
Ethics committee address [1] 298242 0
Human Research Ethics Committee, Mater Research Level 2 Aubigny Place, Raymond Terrace, South Brisbane 4101
Ethics committee country [1] 298242 0
Date submitted for ethics approval [1] 298242 0
Approval date [1] 298242 0
Ethics approval number [1] 298242 0

Brief summary
Glycogenic hepatopathy is an uncommon condition causing painful liver enlargement, impaired liver function and in the long term, may cause irreversible liver fibrosis in young individuals with type 1 diabetes. We wish to study whether there may be an underlying genetic cause which increases the risk for people to develop this condition.
Glycogenic hepatopathy is thought to occur when there are concomitant high blood glucose levels and elevated insulin levels, and may be associated with elevated serum lactate levels. This triad contributes to increased liver glycogen storage ultimately culminating in liver damage.
Excess hepatic glycogen storage is also characterstic of glycogen storage diseases, which are a group of heritable conditions where storage of glucose or release of glucose from storage does not occur normally, and can cause enlargement of the liver similar to glycogenic hepatopathy. People who have glycogen storage diseases typically have a mutation (change) in both copies of the causative gene. However, we are addressing the question of whether having type 1 diabetes with only one copy of the mutation for glycogen storage diseases (heterozygosity) is sufficient to precipitate abnormal glucose storage or release, resulting in the development of glycogenic hepatopathy. In support of our hypothesis, strict blood glucose control reverses glycogenic hepatopathy.
This pilot study will help clarify whether genetic sequencing for mutations which cause glycogen storage disorders can identify young people with type 1 diabetes at risk of glycogenic hepatopathy. This will enable us to alter clinical practice by facilitating genetic counselling of these patients on the particular importance of tight blood glucose control in their case and make diagnosis of this disorder less invasive. Indeed, currently, a definitive diagnosis of glycogenic hepatopathy can only be made by liver biopsy. This may be hazardous particularly in young children, a common time when the disorder first presents. Determining whether there is a genetic mutation associated with glycogenic hepatopathy may enable diagnosis to be made without having to perform a liver biopsy.
Trial website
Trial related presentations / publications
Public notes

Principal investigator
Name 76450 0
Dr Stephanie Teasdale
Address 76450 0
Queensland Diabetes and Endocrine Centre, Level 2 Annerley Road Campus, Mater Hospital, Annerley Road, South Brisbane, Qld 4101
Country 76450 0
Phone 76450 0
+61 7 31638111
Fax 76450 0
Email 76450 0
Contact person for public queries
Name 76451 0
Dr Stephanie Teasdale
Address 76451 0
Queensland Diabetes and Endocrine Centre, Annerley Road Campus, Mater Hospital, Annerley Road, South Brisbane, Qld 4101
Country 76451 0
Phone 76451 0
+61 7 31638111
Fax 76451 0
Email 76451 0
Contact person for scientific queries
Name 76452 0
Dr Stephanie Teasdale
Address 76452 0
Queensland Diabetes and Endocrine Centre, Level 2 Annerley Road Campus, Mater Hospital, Annerley Road, South Brisbane, Qld 4101
Country 76452 0
Phone 76452 0
+61 7 31638111
Fax 76452 0
Email 76452 0

No information has been provided regarding IPD availability
Summary results
No Results