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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT04157595




Registration number
NCT04157595
Ethics application status
Date submitted
21/10/2019
Date registered
8/11/2019

Titles & IDs
Public title
Mackenzie's Mission: The Australian Reproductive Carrier Screening Project
Scientific title
Mackenzie's Mission: The Australian Reproductive Carrier Screening Project
Secondary ID [1] 0 0
RCH HREC 2019.097
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
X-Linked Genetic Diseases 0 0
Autosomal Recessive Disorder 0 0
Condition category
Condition code
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders

Intervention/exposure
Study type
Interventional
Description of intervention(s) / exposure
Other interventions - Reproductive Genetic Carrier Screening

Experimental: Participating Couples - Reproductive Genetic Carrier Screening


Other interventions: Reproductive Genetic Carrier Screening
Carrier screening for approximately 1300 genes associated with severe autosomal recessive and X-linked recessive conditions affecting children will be performed on each member of the couple. A combined result will be issued indicating whether the couple has a 'low' or 'increased' risk of having a child with a genetic condition
Intervention code [1] 0 0
Other interventions
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Screening Uptake (Quantitative)
Timepoint [1] 0 0
At offer of screening
Primary outcome [2] 0 0
Frequency of Increased-Risk Couples
Timepoint [2] 0 0
At reporting of results (~Weeks 5-6 since enrolment)
Primary outcome [3] 0 0
Reproductive Choices made by Increased-Risk Couples
Timepoint [3] 0 0
Reproductive choices made by couples will be tracked from the date an increased-risk result is received until study closure on 31 December 2022. A subset of couples will be interviewed ~19 months after receiving an increased-risk result.
Primary outcome [4] 0 0
Cohort Characteristics of those who decline and those who accept RGCS
Timepoint [4] 0 0
Couples who decline screening;at offer or at enrolment (Day 0); optional. Couples who accept screening; at enrolment (Day 0); compulsory.
Primary outcome [5] 0 0
Predictors of Uptake - Decliners
Timepoint [5] 0 0
Couples who decline screening; at offer or enrolment (Day 0); optional
Primary outcome [6] 0 0
Predictors of Uptake - Decliners
Timepoint [6] 0 0
At decision not to provide samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
Primary outcome [7] 0 0
Predictors of Uptake - Acceptors
Timepoint [7] 0 0
Couples who accept screening; at offer or enrolment (Day 0); compulsory.
Primary outcome [8] 0 0
Predictors of Uptake - Acceptors
Timepoint [8] 0 0
At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
Secondary outcome [1] 0 0
Participant Experience - Attitudes/Perceptions
Timepoint [1] 0 0
Couples who decline screening;at offer or at enrolment (Day 0); optional. Couples who accept screening; at enrolment (Day 0); compulsory.
Secondary outcome [2] 0 0
Participant Experience - State-Anxiety - pre-screening
Timepoint [2] 0 0
Couples who decline screening; at enrolment (Day 0); optional. Couples who accept screening; at enrolment (Day 0); compulsory.
Secondary outcome [3] 0 0
Participant Experience - State-Anxiety - pre-screening II
Timepoint [3] 0 0
At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
Secondary outcome [4] 0 0
Participant Experience - State-Anxiety - post-result
Timepoint [4] 0 0
Low-risk and increased-risk couples; post-result (~Weeks 17-18 since enrolment); optional
Secondary outcome [5] 0 0
Participant Experience - State-Anxiety - long-term follow-up
Timepoint [5] 0 0
Low-risk couples; long-term follow-up (~13 months since enrolment); optional. Increased-risk couples; long-term follow-up (~19 months since enrolment); optional
Secondary outcome [6] 0 0
Participant Experience - Trait-Anxiety - pre-screening
Timepoint [6] 0 0
Couples who decline screening; at enrolment (Day 0); optional. Couples who accept screening; at enrolment (Day 0); compulsory.
Secondary outcome [7] 0 0
Participant Experience - Trait-Anxiety - pre-screening II
Timepoint [7] 0 0
At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
Secondary outcome [8] 0 0
Participant Experience - Trait-Anxiety - post-result
Timepoint [8] 0 0
Low-risk and increased-risk couples; post-result (~Weeks 17-18 since enrolment); optional
Secondary outcome [9] 0 0
Participant Experience - Trait-Anxiety - long-term follow-up
Timepoint [9] 0 0
Low-risk couples; long-term follow-up (~13 months since enrolment); optional. Increased-risk couples; long-term follow-up (~19 months since enrolment); optional
Secondary outcome [10] 0 0
Health Economic Impact - Assessment of Quality of Life - pre-screening
Timepoint [10] 0 0
Couples who decline testing, at enrolment (Day 0); optional. Couples who accept testing, at enrolment (Day 0); compulsory
Secondary outcome [11] 0 0
Health Economic Impact - Assessment of Quality of Life - post-result
Timepoint [11] 0 0
Low-risk and increased-risk couples; post-result (~Weeks 17-18 since enrolment); optional
Secondary outcome [12] 0 0
Health Economic Impact - Assessment of Quality of Life - long-term follow-up
Timepoint [12] 0 0
Low-risk couples; long-term follow-up (~13 months since enrolment); optional. Increased-risk couples; long-term follow-up (~19 months since enrolment); optional
Secondary outcome [13] 0 0
Health Economic Impact - Participants' willingness to pay
Timepoint [13] 0 0
Couples who decline screening, at enrolment (Day 0); optional. Couples who accept screening, at enrolment (Day 0); compulsory
Secondary outcome [14] 0 0
Participant Experience - Health Literacy
Timepoint [14] 0 0
At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
Secondary outcome [15] 0 0
Participant Experience - Evaluation of Educational and Decision-Aid Materials
Timepoint [15] 0 0
At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
Secondary outcome [16] 0 0
Participant Experience - Decisional Conflict
Timepoint [16] 0 0
At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
Secondary outcome [17] 0 0
Participant Experience - Deliberation
Timepoint [17] 0 0
At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
Secondary outcome [18] 0 0
Participant Experience - Decision-Making Approach
Timepoint [18] 0 0
At provision of samples for screening, anticipated to be within ten days of enrolment (Days 2-10); optional
Secondary outcome [19] 0 0
Participant Experience - Genomics Outcome Scale (GOS-6)
Timepoint [19] 0 0
Increased-risk couples, before and after genetic counselling session (~Weeks 5-6 since enrolment)
Secondary outcome [20] 0 0
Participant Experience - Decisional Regret - post-result
Timepoint [20] 0 0
Low-risk and increased-risk couples; post-result (~Weeks 17-18 since enrolment); optional
Secondary outcome [21] 0 0
Participant Experience - Decisional Regret - long-term follow-up
Timepoint [21] 0 0
Low-risk couples; long-term follow-up (~13 months since enrolment); optional. Increased-risk couples; long-term follow-up (~19 months since enrolment); optional
Secondary outcome [22] 0 0
Participant Experience - Qualitative Interviews
Timepoint [22] 0 0
Low-risk couples; long-term follow-up (~13 months since enrolment); optional. Increased-risk couples; long-term follow-up (~19 months since enrolment); optional

Eligibility
Key inclusion criteria
In order to take part in the study, couples need to have visited a recruiting HCP who will assess them for eligibility based on the criteria below:

INCLUSION CRITERIA

* Planning to become pregnant or in early pregnancy (less than 10 weeks gestation at enrolment and less than 11 weeks gestation at sample receipt by the laboratory)
* Both members of the couple available to participate in the study and available to provide a sample for testing at the same time.
* If the couples are using an egg/sperm donor/s, the donor/s need to be available to provide a DNA sample for testing and consent to having carrier screening.

NB: If both members of the couple are known carriers of the same autosomal recessive condition, or the female is a known carrier of an X-linked recessive condition, they will still be eligible to have RGCS through the study, but will only be considered an 'increased-risk' couple for the purposes of this study if they are identified through the study testing to be carriers of pathogenic variants in a different gene.

EXCLUSION CRITERIA

Participating couples meeting any of the following requirements will be excluded from this study:

* Pregnant and greater than 10 weeks gestation at enrolment.
* Only one member of the couple agrees to participate in the study.
* One or both members of the couple are less than 18 years old.
* Both members of the couple are not available to be tested at the same time.
* The couple are using an egg/sperm donor/s and the donor/s are not available for testing or the couple are using an anonymous donor.
* One member of the couple has already been screened as part of the study.
Minimum age
18 Years
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
Yes
Key exclusion criteria

Study design
Purpose of the study
Other
Allocation to intervention
NA
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
NA
Type of endpoint/s
Statistical methods / analysis

Recruitment
Recruitment status
Active, not recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
21/11/2019
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
31/12/2024
Actual
Sample size
Target
Accrual to date
Final
18302
Recruitment in Australia
Recruitment state(s)
NSW,NT,QLD,SA,TAS,VIC,WA
Recruitment hospital [1] 0 0
Forster Community Health Service - Forster
Recruitment hospital [2] 0 0
Liverpool Hospital - Liverpool
Recruitment hospital [3] 0 0
Hunter Genetics - Newcastle
Recruitment hospital [4] 0 0
Royal Hospital for Women - Sydney
Recruitment hospital [5] 0 0
Sydney Children's Hospital, Randwick - Sydney
Recruitment hospital [6] 0 0
Royal Prince Alfred Hospital - Sydney
Recruitment hospital [7] 0 0
The Children's Hospital at Westmead - Sydney
Recruitment hospital [8] 0 0
Westmead Hospital - Sydney
Recruitment hospital [9] 0 0
Campbelltown Hospital - Sydney
Recruitment hospital [10] 0 0
Tamworth Communith Health Services - Tamworth
Recruitment hospital [11] 0 0
Taree Community Health Service - Taree
Recruitment hospital [12] 0 0
Wagga Wagga Base Hospital - Wagga Wagga
Recruitment hospital [13] 0 0
Royal Darwin Hospital - Darwin
Recruitment hospital [14] 0 0
Royal Brisbane and Women's Hospital - Brisbane
Recruitment hospital [15] 0 0
Cairns Hospital - Cairns
Recruitment hospital [16] 0 0
Mareeba Hospital - Mareeba
Recruitment hospital [17] 0 0
Women's and Children's Hospital - Adelaide
Recruitment hospital [18] 0 0
Royal Hobart Hospital - Hobart
Recruitment hospital [19] 0 0
Victorian Clinical Genetics Services - Melbourne
Recruitment hospital [20] 0 0
Northern Hospital - Melbourne
Recruitment hospital [21] 0 0
Mercy Hospital for Women - Melbourne
Recruitment hospital [22] 0 0
West Gippsland Heath Service (Warragul Hospital) - Warragul
Recruitment hospital [23] 0 0
Joondalup Health Campus - Joondalup
Recruitment hospital [24] 0 0
King Edward Memorial Hospital - Perth
Recruitment postcode(s) [1] 0 0
2428 - Forster
Recruitment postcode(s) [2] 0 0
2170 - Liverpool
Recruitment postcode(s) [3] 0 0
2298 - Newcastle
Recruitment postcode(s) [4] 0 0
2031 - Sydney
Recruitment postcode(s) [5] 0 0
2050 - Sydney
Recruitment postcode(s) [6] 0 0
2145 - Sydney
Recruitment postcode(s) [7] 0 0
2560 - Sydney
Recruitment postcode(s) [8] 0 0
2340 - Tamworth
Recruitment postcode(s) [9] 0 0
2430 - Taree
Recruitment postcode(s) [10] 0 0
2650 - Wagga Wagga
Recruitment postcode(s) [11] 0 0
0810 - Darwin
Recruitment postcode(s) [12] 0 0
4029 - Brisbane
Recruitment postcode(s) [13] 0 0
4870 - Cairns
Recruitment postcode(s) [14] 0 0
4880 - Mareeba
Recruitment postcode(s) [15] 0 0
5006 - Adelaide
Recruitment postcode(s) [16] 0 0
7000 - Hobart
Recruitment postcode(s) [17] 0 0
3052 - Melbourne
Recruitment postcode(s) [18] 0 0
3076 - Melbourne
Recruitment postcode(s) [19] 0 0
3084 - Melbourne
Recruitment postcode(s) [20] 0 0
3820 - Warragul
Recruitment postcode(s) [21] 0 0
6027 - Joondalup
Recruitment postcode(s) [22] 0 0
6008 - Perth

Funding & Sponsors
Primary sponsor type
Other
Name
Murdoch Childrens Research Institute
Address
Country
Other collaborator category [1] 0 0
Government body
Name [1] 0 0
Australian Government Department of Health and Ageing
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
The University of New South Wales
Address [2] 0 0
Country [2] 0 0
Other collaborator category [3] 0 0
Other
Name [3] 0 0
The University of Western Australia
Address [3] 0 0
Country [3] 0 0
Other collaborator category [4] 0 0
Other
Name [4] 0 0
Harry Perkins Institute of Medical Research
Address [4] 0 0
Country [4] 0 0
Other collaborator category [5] 0 0
Other
Name [5] 0 0
University of Sydney
Address [5] 0 0
Country [5] 0 0
Other collaborator category [6] 0 0
Other
Name [6] 0 0
Macquarie University, Australia
Address [6] 0 0
Country [6] 0 0
Other collaborator category [7] 0 0
Other
Name [7] 0 0
Griffith University
Address [7] 0 0
Country [7] 0 0
Other collaborator category [8] 0 0
Other
Name [8] 0 0
Victorian Clinical Genetics Services
Address [8] 0 0
Country [8] 0 0
Other collaborator category [9] 0 0
Other
Name [9] 0 0
NSW Health Pathology
Address [9] 0 0
Country [9] 0 0
Other collaborator category [10] 0 0
Government body
Name [10] 0 0
PathWest Laboratory Medicine WA
Address [10] 0 0
Country [10] 0 0
Other collaborator category [11] 0 0
Other
Name [11] 0 0
King Edward Memorial Hospital
Address [11] 0 0
Country [11] 0 0
Other collaborator category [12] 0 0
Government body
Name [12] 0 0
Royal Brisbane and Women's Hospital
Address [12] 0 0
Country [12] 0 0
Other collaborator category [13] 0 0
Government body
Name [13] 0 0
Women's and Children's Hospital, Australia
Address [13] 0 0
Country [13] 0 0
Other collaborator category [14] 0 0
Other
Name [14] 0 0
Sydney Children's Hospitals Network
Address [14] 0 0
Country [14] 0 0
Other collaborator category [15] 0 0
Government body
Name [15] 0 0
Royal Hobart Hospital
Address [15] 0 0
Country [15] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Martin Delatycki
Address 0 0
Murdoch Children's Research Institute/Victorian Clinical Genetics Services
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
Yes
What data in particular will be shared?
De-identified samples, genomic data and associated clinical information may be shared with researchers for other Human Research Ethics Committee approved research studies and with recognised national and international databases to advance scientific knowledge.
When will data be available (start and end dates)?
Available to whom?
Available for what types of analyses?
How or where can data be obtained?


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

No documents have been uploaded by study researchers.


Results not provided in https://clinicaltrials.gov/study/NCT04157595