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Trial registered on ANZCTR


Registration number
ACTRN12620001123932
Ethics application status
Approved
Date submitted
8/07/2020
Date registered
30/10/2020
Date last updated
4/08/2023
Date data sharing statement initially provided
30/10/2020
Type of registration
Retrospectively registered

Titles & IDs
Public title
Implementing a patient-centred care model to diagnosis of Maturity Onset Diabetes of the Young (MODY)
Scientific title
Feasibility of a novel genetic mainstreaming care model to diagnosis of Maturity Onset Diabetes of the Young (MODY).
Secondary ID [1] 301687 0
nil
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Maturity Onset Diabetes of the Young 318134 0
Condition category
Condition code
Metabolic and Endocrine 316159 316159 0 0
Diabetes
Human Genetics and Inherited Disorders 316160 316160 0 0
Other human genetics and inherited disorders

Intervention/exposure
Study type
Interventional
Description of intervention(s) / exposure
A single genetic testing visit of up to 40 minutes will occur for participants meeting the eligibility criteria. During this visit, two blood samples of up to 20mL each and one saliva sample of up to 5mL will be provided by the participant, samples will then be forwarded to the Exeter Laboratory in UK for clinical MODY genetic testing, etc.

Participants will complete MODY Psychosocial Questionnaire which incorporates 2 validated questionnaires (Satisfaction With Decision (SWD) Scale and The Genetic Counselling Outcome Scale test) at the enrolment visits also.

The results will be provided to participants by their treating Endocrinologist, e.g. within 6 weeks of the genetic testing visit. This visit will take about 30 min which includes the completion of the above mentioned Psychosocial Questionnaire.

A 30-minute face-to-face semi-structured interview with the clinicians will be carried out at completion of patient visits. The interview aims to explore the comfort levels and support needs of non-genetics specialists in offering and discussing genetic testing with their patients.
Intervention code [1] 317997 0
Early detection / Screening
Comparator / control treatment
No Control Group
Control group
Uncontrolled

Outcomes
Primary outcome [1] 324342 0
Feasibility of a genetic mainstreaming care model will be determined by examining comfort levels of physicians through a one-on-one semi-structured audio-recorded interview
Timepoint [1] 324342 0
After Genetic Disclosure of each participant within one month
Primary outcome [2] 325546 0
Feasibility of a genetic mainstreaming care model will be determined by examining support needs of physicians through a one-on-one semi-structured audio-recorded interview
Timepoint [2] 325546 0
After Genetic Disclosure of each participant within one month
Secondary outcome [1] 387234 0
Nil
Timepoint [1] 387234 0
Nil

Eligibility
Key inclusion criteria

Adult patients aged 18 years and over

Diagnosed with either Type 1 or Type 2 Diabetes, and who meets the following additional criteria:
Type 1 Diabetes Mellitus (MODY3 to be excluded)
- Negative Antibodies
AND at least one of:
- Positive Family History
- Positive C-peptide

Understands written English

Willingness to give written informed consent, and willingness to participate in and comply

Willingness to undergo MODY genetic testing, after informed consent

Clinician Interviews

Endocrinologists working at St Vincent's Hospital
Willingness to participate in study
Minimum age
18 Years
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
Patient who had previously undergone MODY genetic testing
Patient who has a known family history of MODY diagnosed through genetic testing

Study design
Purpose of the study
Diagnosis
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
Phase
Not Applicable
Type of endpoint/s
Efficacy
Statistical methods / analysis
A power calculation on sample size is not applicable for the current study as this is predominantly an observational/qualitative study.
For the quantitative measurement of psychosocial scales, comparison will be made between pre-test scores versus post-test scores, using the Paired t test. Any significant outliers, either as individual scores or as a significant difference between pre- and post-test scores for any individual participant, will be qualitatively described.

Recruitment
Recruitment status
Completed
Date of first participant enrolment
Anticipated
Actual
11/09/2019
Date of last participant enrolment
Anticipated
1/07/2022
Actual
30/09/2022
Date of last data collection
Anticipated
2/01/2023
Actual
11/01/2023
Sample size
Target
70
Accrual to date
Final
70
Recruitment in Australia
Recruitment state(s)
NSW
Recruitment hospital [1] 17020 0
St Vincent's Hospital (Darlinghurst) - Darlinghurst
Recruitment postcode(s) [1] 30687 0
2010 - Darlinghurst

Funding & Sponsors
Funding source category [1] 306123 0
Charities/Societies/Foundations
Name [1] 306123 0
St Vincent's Curran Foundation
Country [1] 306123 0
Australia
Primary sponsor type
Hospital
Name
St Vincent's Hospital, Sydney
Address
390 Victoria Street
Darlinghust
NSW
2010
Country
Australia
Secondary sponsor category [1] 306623 0
None
Name [1] 306623 0
Address [1] 306623 0
Country [1] 306623 0

Ethics approval
Ethics application status
Approved
Ethics committee name [1] 306341 0
St Vincent's Hospital HREC
Ethics committee address [1] 306341 0
97 to 105 Boundary street
Darlinghurst
NSW
2010
Ethics committee country [1] 306341 0
Australia
Date submitted for ethics approval [1] 306341 0
25/01/2019
Approval date [1] 306341 0
17/06/2019
Ethics approval number [1] 306341 0

Summary
Brief summary
Currently, genetic testing is recommended to be undertaken by genetics professionals (e.g. clinical geneticists, genetic counsellors) following appropriate counselling. This approach requires an additional referral to a genetics clinic which often has a long waiting list. This research explores the feasibility of “mainstreaming” genetic testing for MODY by allowing genetic testing to be arranged by non-genetics professionals and in this case to be arranged by Endocrinologists in their usual routine clinical setting. The advantage of mainstreaming is that it can be done at point of care, as a one-stop shop, for the patients, rather than having them referred to a genetics unit.
A genetic mainstreaming model has been successfully trialled in oncology care to guide breast/ovarian cancer management. Leveraging Next Generation Sequencing technology, MODY represents an ideal non-cancer disease model for genomic mainstreaming, as its point-of-care diagnosis will guide tailored management in those newly diagnosed with diabetes.
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 103550 0
Dr Kathy Wu
Address 103550 0

Organisation: St Vincent’s Hospital Sydney
Department: Clinical Genomics Unit
Position: Head of Department
97 to 105 Boundary Street
Darlinghurst
NSW
2010
Country 103550 0
Australia
Phone 103550 0
+61 02 83824899
Fax 103550 0
Email 103550 0
[email protected]
Contact person for public queries
Name 103551 0
Kathy Wu
Address 103551 0

Organisation: St Vincent’s Hospital Sydney
Department: Clinical Genomics Unit
Position: Head of Department
97 to 105 Boundary Street
Darlinghurst
NSW
2010
Country 103551 0
Australia
Phone 103551 0
+61 02 83824899
Fax 103551 0
Email 103551 0
[email protected]
Contact person for scientific queries
Name 103552 0
Kathy Wu
Address 103552 0

Organisation: St Vincent’s Hospital Sydney
Department: Clinical Genomics Unit
Position: Head of Department
97 to 105 Boundary Street
Darlinghurst
NSW
2010
Country 103552 0
Australia
Phone 103552 0
+61 02 83824899
Fax 103552 0
Email 103552 0
[email protected]

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
No
No/undecided IPD sharing reason/comment


What supporting documents are/will be available?

Doc. No.TypeCitationLinkEmailOther DetailsAttachment
8423Study protocol    380123-(Uploaded-08-07-2020-10-55-41)-Study-related document.docx



Results publications and other study-related documents

Documents added manually
No documents have been uploaded by study researchers.

Documents added automatically
SourceTitleYear of PublicationDOI
EmbaseTip of the iceberg: are we missing undiagnosed patients with maturity onset diabetes of the young?.2022https://dx.doi.org/10.1111/imj.15948
N.B. These documents automatically identified may not have been verified by the study sponsor.