ANZCTR - Registration

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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]

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

Condition category

Condition code

Metabolic and Endocrine

Diabetes

Human Genetics and Inherited Disorders

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]

Early detection / Screening

Comparator / control treatment

No Control Group

Control group

Uncontrolled

Outcomes

Primary outcome [1]

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]

After Genetic Disclosure of each participant within one month

Primary outcome [2]

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]

After Genetic Disclosure of each participant within one month

Secondary outcome [1]

Nil

Timepoint [1]

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?

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

Accrual to date

Final

Recruitment in Australia

Recruitment state(s)

NSW

Recruitment hospital [1]

St Vincent's Hospital (Darlinghurst) - Darlinghurst

Recruitment postcode(s) [1]

2010 - Darlinghurst

Funding & Sponsors

Funding source category [1]

Charities/Societies/Foundations

Name [1]

St Vincent's Curran Foundation

Address [1]

St Vincent's Hospital
De Lacy, 390 Victoria St, Darlinghurst NSW 2010

Country [1]

Australia

Primary sponsor type

Hospital

Name

St Vincent's Hospital, Sydney

Address

390 Victoria Street
Darlinghust
NSW
2010

Country

Australia

Secondary sponsor category [1]

None

Name [1]

Address [1]

Country [1]

Ethics approval

Ethics application status

Approved

Ethics committee name [1]

St Vincent's Hospital HREC

Ethics committee address [1]

97 to 105 Boundary street
Darlinghurst
NSW 
2010

Ethics committee country [1]

Australia

Date submitted for ethics approval [1]

25/01/2019

Approval date [1]

17/06/2019

Ethics approval number [1]

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

Dr Kathy Wu

Address

Organisation: St Vincent’s Hospital Sydney
Department: Clinical Genomics Unit
Position: Head of Department
97 to 105 Boundary Street
Darlinghurst
NSW
2010

Country

Australia

Phone

+61 02 83824899

Fax

[email protected]

Contact person for public queries

Name

Kathy Wu

Address

Organisation: St Vincent’s Hospital Sydney
Department: Clinical Genomics Unit
Position: Head of Department
97 to 105 Boundary Street
Darlinghurst
NSW
2010

Country

Australia

Phone

+61 02 83824899

Fax

[email protected]

Contact person for scientific queries

Name

Kathy Wu

Address

Organisation: St Vincent’s Hospital Sydney
Department: Clinical Genomics Unit
Position: Head of Department
97 to 105 Boundary Street
Darlinghurst
NSW
2010

Country

Australia

Phone

+61 02 83824899

Fax

[email protected]

Data sharing statement

Will individual participant data (IPD) for this trial be available (including data dictionaries)?

No/undecided IPD sharing reason/comment

What supporting documents are/will be available?

Doc. No.	Type	Citation	Link	Email	Other Details	Attachment
8423	Study 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

Source	Title	Year of Publication	DOI
Embase	Tip of the iceberg: are we missing undiagnosed patients with maturity onset diabetes of the young?.	2022	https://dx.doi.org/10.1111/imj.15948

N.B. These documents automatically identified may not have been verified by the study sponsor.

Trial Review

Documents added manually

Documents added automatically