ANZCTR - Registration

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Trial registered on ANZCTR

Registration number

ACTRN12621001544864

Ethics application status

Approved

Date submitted

30/09/2021

Date registered

12/11/2021

Date last updated

6/03/2023

Date data sharing statement initially provided

12/11/2021

Date results information initially provided

14/10/2022

Type of registration

Prospectively registered

Titles & IDs

Public title

An evaluation of an information linker service for families with a child diagnosed with genetic epilepsy.

Scientific title

A pre-post pilot evaluation of ‘GenE Compass’: Linking families and clinicians with the highest quality information about developmental and epileptic encephalopathies

Secondary ID [1]

None

Universal Trial Number (UTN)

Trial acronym

Linked study record

Health condition

Health condition(s) or problem(s) studied:

Developmental and epileptic encephalopathy

Condition category

Condition code

Neurological

Epilepsy

Human Genetics and Inherited Disorders

Other human genetics and inherited disorders

Intervention/exposure

Study type

Interventional

Description of intervention(s) / exposure

GenE Compass is a personalised information service for parents/caregivers (herein referred to as caregivers). Caregivers can submit questions on their child’s DEE to our ‘information linker’ via an online form or via phone call (the linker will verbally obtain information for the form on the call and submit on the caregivers’ behalf). They can do this either independently or in partnership with a healthcare professional. Caregivers will be able to ask as many questions as they link within their 3-months access to GenE Compass.

Questions can be about their child’s specific diagnosis such as about expected co-morbidities, natural history information, support resources, what current research is being conducted on that condition, how gene therapies or precision medicine works. In regards to clinical trials, we will not provide any recommendations of enrolment. Rather, we will provide links to support caregivers to access this information themselves. We will only provide specific treatment information for a genetic diagnosis if it is within international consensus guidelines.

We have consulted clinical, medicolegal and clinical ethics experts and have designed GenE Compass as an information resource which compliments but does not replace clinical care. Therefore we have made it clear that we cannot offer specific management advice (e.g. advice on choice of one therapy over another) for individual patient or families, as that is under the jurisdiction of the individual managing physicians. We have clearly managed expectations for the scope of GenE Compass in the recruitment information and have provided a pathway for highlighting what requests are ‘out of scope’ for the pilot

The GenE Compass information linker, is a professional person with expertise in collating medical information and explaining this to families, who will be responsible for:
1. triaging queries to Level A or B
2. researching the peer-reviewed literature to answer the caregivers’ questions
3. preparing an initial report and discussing their findings at the weekly GenE Compass multi-disciplinary team meeting (including clinical geneticists, genetic counsellors, a neurologist, and clinical nurse consultant).
4. finalising the report and sending it back to the caregiver and the caregivers’ nominated healthcare professionals.

Questions are triaged into Level A or B queries. Level A queries are defined as “Out of scope of GenE Compass, can be best responded to by a known alternative service/organisation, or simple response required OR consists of a clinical question which will need to be addressed by one of the child’s clinicians as greater context is required.” Should a query be considered Level A by the information linker and senior multidisciplinary team members (i.e. a epileptologist, and two clinical geneticists), the linker will email the caregiver directly providing information about why their question is outside of the scope of GenE Compass and recommendations for caregivers next step. For example, if a caregiver submits a question about increasing medication dose due to an increase in seizure frequency, the information linker will clarify that GenE Compass is not a medical service and will direct the caregiver to contact their child’s neurologist and/or paediatrician.

Level B queries are defined as “Questions related to information about a DEE or comorbidities, but not direct patient care” (i.e. within scope of GenE Compass). In these cases, the linker will conduct their rapid literature review, prepare an initial report, consult with the expert multidisciplinary team and finalise the report.

The report will be written at a maximum Grade 8 readability (Flesch-Kincaid readability score; with the primary readership being the caregivers). An important part of GenE Compass will be the assessment of the quality of web-resources, as we anticipate that some of the information that will be sought will not be in peer-reviewed articles. Building on our experience of running pennsw.org.au we will also pilot a star rating of information. For example, a '***' rating will indicate that information provided is supported by at least 1 article in a peer-reviewed journal for that particular cohort.

We anticipate that we will return a report to the caregiver within 10 business days, however we will be exploring the feasibility of the GenE Compass in this evaluation. We anticipate it will take 5-10 business days based on previous research done by Swinglehurst et al (2001) and our capacity to run weekly GenE Compass multi-disciplinary team meeting.

We anticipate that the report will be delivered in a standard format. However, we will be examining the queries that are sent to our service and iterating the report format and content so that it is most valuable to each family, yet sustainable long-term.

If necessary, the report will be shared with the caregivers with the support of Aboriginal liaison workers and/or Interpreter services.

At the end of our evaluation we will examine the quality of the information that shared within our reports. This will provide a list gaps in current evidence for future researchers and clinicians to explore.

Prior to sending out to a caregiver, all reports will be reviewed by at least two clinicians on our expert multidisciplinary team. For example, a query about genetic testing may require a clinical geneticist and genetic counsellor to approve the report, vs. a question about seizures and impact on mental health may require a epileptologist and psychiatrist to approve the report. This will ensure that while the information linker is responsible for the reports, the senior clinicians are accountable and hold ultimate ownership of information provided.

The information the linker obtains for commonly asked questions will also be uploaded onto www.pennsw.org.au. This means that the information gained through this pilot will also be available for caregivers globally. This generated information will also be advertised via our CoGENeS social media pages, GenE Compass study newsletter, CoGENeS family days, our collaborators, Genetic Epilepsy Team Australia (GETA) and Epilepsy Smart program to maximise knowledge dissemination.

Thus, the pilot will provide a ‘living information resource’, tailored to the most frequently asked questions of parents of children with genetic DEE, but available free of access to families and clinicians internationally.

Intervention code [1]

Other interventions

Comparator / control treatment

No control group

Control group

Uncontrolled

Outcomes

Primary outcome [1]

Caregivers' acceptability of GenE Compass We will assess caregivers’ acceptability in Questionnaire 2 (after 3-months of access to GenE Compass). We will assess caregivers’ acceptability through an adapted version of the Client Satisfaction Questionnaire (CSQ-8). The CSQ-8 is a validated measure that is used to assess satisfaction with a service. It has been commonly used to evaluate healthcare services. We will also assess acceptability through 2 purpose-designed open-ended items. Caregivers will have the opportunity to also participate in a semi-structured interview after they complete Questionnaire 2. This 30-minute, audio-recorded interview, will explore acceptability and potential benefit of GenE Compass, and areas for improvement.

Timepoint [1]

3-months after access to GenE Compass. We had recruited 45 participants when this change had occured, none of which had completed their 3-months access of GenE Compass at that point.

Primary outcome [2]

Feasibility of GenE Compass

We will examine feasibility by recruitment rates, retention rates, number of questions submitted (within scope and outside of scope), time taken to respond to caregivers, time required for multidisciplinary team meetings, calls vs. question forms submitted to GenE Compass, number of calls/emails and questions asked to the SCHN epilepsy consultant nurse specialists, and any distress caused by reports indicating in the feedback forms. This data will also be used to identify potential barriers and enablers to sucessful implementation.

We will collect the following from our study recruitment database and an audit of study records:
- recruitment rates
- retention rates
- time required for multidisciplinary team meetings in a separate database

We will collect the following through REDCap, entered by participants or our study team
- number of questions submitted (per participant and overall), within and outside of scope
- time taken to respond to caregivers
- calls and question forms submitted to GenE Compass
- any distress caused by reports (via the report-specific feedback forms)

The SCHN epilepsy nurse consultants log all phone/email communications on the electronic medical records. We will obtain the number of calls/emails and questions asked by GenE Compass families via the Health Information Services at SCHN.

Timepoint [2]

3-months after access to GenE Compass.

Primary outcome [3]

Clinicians' acceptability of GenE Compass

We will assess Compass clinicians’ acceptability through an adapted version of the CSQ-8, and 3 purpose-designed open-ended items.

Timepoint [3]

We will assess clinicians’ acceptability at end of study.

Secondary outcome [1]

Parental quality of life

We will be using the ASCOT Adult Social Care Outcomes Toolkit – four-level self-completion questionnaire (SCT4) for carers. The validated ASCOT-Carer SCT4 is a self-completion version of the Adult Social Care Outcomes Toolkit (ASCOT) designed to measure the social care-related quality of life (SCRQoL) of carers aged 18 years or over. ASCOT-Carer SCRQoL refers to those aspects of a carer’s quality of life that are relevant to, and the focus of, social care interventions.

Timepoint [1]

3-months after access to GenE Compass

Secondary outcome [2]

Information seeking behaviours

We will collect this information via three purpose-designed items: one open-ended response and two checkbox selections.

Timepoint [2]

3-months after access to GenE Compass

Secondary outcome [3]

Percieved view of their child's illness

We will assess this outcome via the Brief Illness Perceptions Questionnaire (Brief IPQ). The Brief IPQ is a validated measure of perceived view of the illness, with the final Question 9 regarding the causation of illness removed as it is not relevant to study aims and does not contribute to the overall Brief IPQ score. This measure as has previously been used to measure perceptions in parents who have a child with a neurological condition, and has also been shown to be sensitive to change.

Timepoint [3]

3-months after access to GenE Compass

Secondary outcome [4]

Patient activation

The measure we will use to assess this is the Patient Activation Measure – short form (PAM – short form). The PAM is a validated measure of patient knowledge, skill, and confidence for self-management, adapted for this study. Using this measure, better patient activation appears to be linked to better health outcomes and healthcare satisfaction, and improved self-management.

Timepoint [4]

3-months after access to GenE Compass

Eligibility

Key inclusion criteria

Caregivers will be eligible if:
1.. They have a child (<18 years of age at time of study invitation) with a clinically suspected or confirmed diagnosis of a developmental and epileptic encephalopathy (e.g. SCN2A-encephalopathy, WWOX-encephalopathy). If a child transitions to the adult health system during the course of the study they will remain eligible for the remaining study period
2. Are a new or existing patients of the Sydney Children’s Hospitals Network.
3. Can read/speak English

Caregivers will be required to nominate their child's GP, Paediatrician and Neurologist. These clinicians will receive a copy of the caregivers' report. Clinicians who receive a report in the first 6-months of the study being open will be eligible to complete a questionnaire. Clinicians who receive a report in the second 6-months of the study being open will be eligible to complete another questionnaire (maximum two questionnaires for each clinician).

Minimum age

No limit

Maximum age

No limit

Sex

Both males and females

Can healthy volunteers participate?

Key exclusion criteria

Caregivers deemed, by one of their clinicians, as having significant acute mental health illness such as currently experiencing suicidal ideation or symptoms of psychosis. This is to mitigate further burden on the highly vulnerable families until we determine acceptability and safety of our intervention.

Study design

Purpose of the study

Educational / counselling / training

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

Who is / are masked / blinded?

Intervention assignment

Single group

Other design features

Pre-post design

Phase

Not Applicable

Type of endpoint/s

Safety/efficacy

Statistical methods / analysis

For this pilot evaluation, we plan to recruit at least ~88 caregivers, which will allow for an estimated final sample size of 53. This will allow us to answer our primary research questions, but also gain some insight into GenE Compass’ effectiveness in preparation for our randomised controlled trial (to be conducted should our pilot be successful). This sample size is also realistic as it takes into consideration anticipated attrition due to the longitudinal design.

Based on the expected number of participants, we anticipate at least 50 unique healthcare professionals will be nominated. Based on an estimated response rate in clinicians (i.e. 30%), we anticipate ~15 clinicians will complete our questionnaire at the 6-month mark, and ~15 clinicians will complete our questionnaire at the 12-month mark.

We will analyse all data using SPSS24 (IBM Corp, Armonk, NY). We will use descriptive statistics to describe demographics and assess acceptability. Parametric and non-parametric statistical analyses will be used as appropriate, to examine pre-post intervention differences (exact McNemar tests). We will also examine the role of health literacy level and remoteness on outcomes. p-Values < 0.05 will be considered statistically significant.

We will use NVivo (Version 12, QSR International) to conduct a directed qualitative content analysis of interview transcripts and any open-ended responses. Two authors will code all responses independently to ensure rigor, with any discordant coding discussed and revised.

Recruitment

Recruitment status

Completed

Date of first participant enrolment

Anticipated

17/01/2022

Actual

9/02/2022

Date of last participant enrolment

Anticipated

20/05/2022

Actual

3/06/2022

Date of last data collection

Anticipated

8/11/2022

Actual

30/11/2022

Sample size

Target

Accrual to date

Final

Recruitment in Australia

Recruitment state(s)

NSW

Recruitment hospital [1]

Sydney Children's Hospital - Randwick

Recruitment hospital [2]

The Children's Hospital at Westmead - Westmead

Recruitment postcode(s) [1]

2031 - Randwick

Recruitment postcode(s) [2]

2145 - Westmead

Funding & Sponsors

Funding source category [1]

Charities/Societies/Foundations

Name [1]

Manildra Group

Address [1]

6 Frank Street, Gladesville, NSW, 2111
PO Box 72, Gladesville, NSW, 1675

Country [1]

Australia

Primary sponsor type

University

Name

UNSW Sydney

Address

UNSW Sydney
High St
Kensington, NSW 2052

Country

Australia

Secondary sponsor category [1]

None

Name [1]

Address [1]

Country [1]

Ethics approval

Ethics application status

Approved

Ethics committee name [1]

Sydney Children's Hospitals Network HREC

Ethics committee address [1]

Cnr Hawkesbury Road and Hainsworth Street, Westmead, NSW Australia
Locked Bag 4001, Westmead 2145, NSW

Ethics committee country [1]

Australia

Date submitted for ethics approval [1]

19/08/2021

Approval date [1]

22/09/2021

Ethics approval number [1]

Summary

Brief summary

We will conduct a pilot of ‘GenE Compass’, an information linkage service for families of a child with a suspected or confirmed diagnosis of a developmental and epileptic encephalopathy (DEE). GenE Compass answers caregivers’ questions about their child’s DEE: for example expected co-morbidities, natural history information, support resources, what current research is being conducted on that condition.

Primary outcomes
1. Is GenE Compass acceptable to caregivers and healthcare professionals?
2. Is GenE Compass feasible to deliver?

Secondary outcomes
3. What is the potential impact of GenE Compass, if any, on caregivers, healthcare professionals and the healthcare system?

We will include caregivers who have a child (<18 years of age) with a suspected or confirmed diagnosis of DEE (e.g. SCN2A-encephalopathy , WWOX- encephalopathy), who are new or existing patients of the Sydney Children’s Hospitals Network and speak English. We will also include healthcare professionals who have been nominated by the caregiver to receive the reports.

Following consent, caregivers will complete Questionnaire 1. They will then be provided access to GenE Compass. Our linker service will triage questions (Level A or B). Level A questions are defined as out of scope of GenE Compass, can be best responded to by a known alternative service/organisation, or simple response required OR consists of a clinical question which will need to be addressed by one of the child’s clinicians as greater context is required. For Level A questions, the linker will respond to the caregiver via email within a few business days to inform them it is either outside the scope of GenE Compass or the more appropriate organisation to support them (e.g. Reframing Disability for questions related to NDIS access).

Level B queries are defined as related to information about a DEE or comorbidities, but not direct patient care (i.e. within scope of GenE Compass). For Level B questions, the linker will conduct a rapid literature search and consult with our expert multidisciplinary team. We will then send caregivers and their nominated healthcare professionals (Neurologist, Paediatrician and/or GP) back a report within 5-10 business days. After 3-months of access to GenE Compass, we will invite caregivers to complete Questionnaire 2 and an optional telephone interview. We will also invite the nominated healthcare professionals to complete a questionnaire at study close.

Trial website

Trial related presentations / publications

Public notes

Contacts

Principal investigator

Name

Dr Elizabeth (Emma) Palmer

Address

UNSW Sydney
Room 810, Level 8, Bright Alliance Building
NSW 2052

Country

Australia

Phone

+61 432101381

Fax

[email protected]

Contact person for public queries

Name

Dr Eden Robertson

Address

UNSW Sydney
Level 8, Bright Alliance Building
NSW 2052

Country

Australia

Phone

+61 450 620 723

Fax

[email protected]

Contact person for scientific queries

Name

Dr Eden Robertson

Address

UNSW Sydney
Level 8, Bright Alliance Building
NSW 2052

Country

Australia

Phone

+61 450 620 723

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

Given the rarity of DEE, there is potential that participants will be identifiable. Given the unique nature of our intervention, we will not share any study supporting documents. However, we intend to publish the protocol for this trial which will be freely available through an open access journal.

What supporting documents are/will be available?

Doc. No.	Type	Citation	Link	Email	Other Details	Attachment
18501	Study protocol	Robertson EG, Kelada L, Best S, et al. Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocolBMJ Open 2022;12:e063249. doi: 10.1136/bmjopen-2022-063249	https://bmjopen.bmj.com/content/12/10/e063249

Results publications and other study-related documents

Documents added manually

Type	Is Peer Reviewed?	DOI	Citations or Other Details	Attachment
Plain language summary	No		72 caregivers consented to GenE Compass. Of these,... [More Details]

Documents added automatically

Source	Title	Year of Publication	DOI
Embase	Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: A mixed-method pilot study protocol.	2022	https://dx.doi.org/10.1136/bmjopen-2022-063249
Embase	"Somewhere to turn to with my questions": A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy.	2023	https://dx.doi.org/10.1016/j.ejpn.2023.09.010
Embase	Quality of life in caregivers of a child with a developmental and epileptic encephalopathy.	2024	https://dx.doi.org/10.1111/dmcn.15695

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

Trial Review

Documents added manually

Documents added automatically