Using a Speech-Generating Device to Support Communication in Rare Genetic Conditions

May 21, 2026 updated by: Murdoch Childrens Research Institute

A Randomized Cross-over Trial Examining the Efficacy of Implementing a Speech-generating Device for Rare Genetic Conditions

Individuals with rare genetic conditions may experience a delay or loss of developmental skills. Many have limited verbal speech. The aim of this clinical trial is to examine how well a speech-generating device supports the communication skills of participants with a rare genetic condition. The speech-generating device is a communication program loaded onto an iPad.

This is a crossover trial, meaning that each participant will receive both the treatment (device) and a control (usual care; no device) phase. The order in which each participant receives the device versus the usual care (no device) will depend on which group the participant is assigned to. The changes in communication in each phase will then be compared.

During the trial, participants can expect to complete a series of assessments and attend a total of 2 x 1-hour therapy session per week for 6 weeks.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

In Australia, a disease is considered rare if it affects less than 1 in 2,000 individuals. There are over 7,000 rare genetic conditions, with three quarters affecting children. Rare diseases are often serious and progressive, presenting with ongoing health and developmental challenges, including speech and language disorders.

Augmentative and alternative communication (AAC) is one of the ways to support children with little speech and children with rare genetic conditions should have access to such tools as early as possible to maximise learning opportunities. However, the efficacy of high-tech AAC methods, such as speech generating devices, for children with rare genetic conditions have not been rigorously examined.

In this randomised cross-over trial, 38 participants with a rare genetic condition will be randomised into two groups (n=19 per group), which will determine the sequence of treatment delivery. The primary aim of this trial is to evaluate the efficacy of implementing a speech-generating device on communication outcomes compared with their usual care (i.e. no device). Change in communication will be measured using a patient-defined outcome - this outcome is a 'communicative act' chosen at the beginning of the trial with participants and their family. This means that each participant will have an individualised communication outcome which will be targeted during treatment sessions and measured in assessment sessions. The secondary aims include parent-reported communication, family impact and language/communication competence.

Each participant will complete screening, preference testing and baseline assessments about 2-4 weeks before randomisation. Further assessments will be completed before and after each phase. For each participant, the change in assessment scores between the start and the end of each period will be calculated. The mean difference in the change in total score between the two periods will then be calculated.

Each participant is expected to be involved in the study for 12 weeks after randomisation. This is split into two phases (6 weeks each). In the treatment (device) phase, each participant will receive two 1-hour therapy sessions per week, for 6 weeks, with a communication device (or 12 x 1-hour therapy within a 6-week treatment phase). The device is implemented by a qualified speech pathologist on the project team and can occur at Murdoch Children's Research Institute or at the participants' home.

The control (usual care) phase involves another 6 weeks, however, no therapy sessions are provided by the project team. Weekly phone-call or telehealth check-ins will be performed to ensure things are going smoothly.

Study Type

Interventional

Enrollment (Estimated)

38

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Australia
    • Victoria
      • Melbourne, Victoria, Australia
        • Recruiting
        • Murdoch Children's Research Institute
        • Contact:
        • Contact:
        • Principal Investigator:
          • Angela T Morgan
        • Sub-Investigator:
          • Shui J Wong
        • Sub-Investigator:
          • Amanda Brignell

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  • Is between the ages of 3 and 12 years, inclusive, at the time of enrolment
  • Has a diagnosis of a rare genetic disorder
  • Passes a visual-motor screening test, therefore being able to tap on an iPad spontaneously or by imitation and has adequate hearing
  • Considered "minimally verbal" with less than 50 spontaneous words (or gestalts) at baseline assessments, confirmed with the LVIS.
  • Is not currently using a speech-generating device with proficiency (i.e. using the device as a main mode of communication on a daily basis).
  • Is English-speaking or consents to therapy being conducted in English (parents will need to be able to complete the parent-reported measures in English)

Exclusion Criteria:

  • Has an additional or dual genetic variation (as this is likely to cause multiple complications and increase variability),
  • Is extremely ill or has progressed into a later stage of their disease (i.e. child has clinically significant loss of vision, hearing, fine motor skills, or is unable to adequately attend sessions due to illness),
  • This is to ensure treatment is beneficial, reduce harm and reduce attrition rates.
  • Lives outside of the state of Victoria (making it difficult for in-person appointments)
  • Inability or unwillingness of participant or legally acceptable representative to give written informed consent.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Supportive Care
  • Allocation: Randomized
  • Interventional Model: Crossover Assignment
  • Masking: Single

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Treatment then Control
The arm receives the intervention (device), then the control
Device: Speech-generating device
The device is an iPad loaded with a grid-based and speech-generating communication application - a suitable application for the participant is determined at the beginning of the trial. This device is used in all 12 therapy sessions and implemented by a qualified speech pathologist in a natural, play-based setting.
Other Names:
  • augmentative and alternative communication
  • communication device
Other: Control
Participants will continue their current model of care. This means that if participants are receiving speech therapy locally, they may continue to do so given that no speech-generating device is introduced or used during this time. Participants will check in with the researching clinician at least once a week via telehealth or phone call - the aim is to stay in contact with families and reduce loss to follow-up. The clinician will also monitor treatment integrity and document any differences that may be present during this phase.
Other Names:
  • Usual care
Other: Control then Treatment
The arm receives the control, then the treatment (device)
Device: Speech-generating device
The device is an iPad loaded with a grid-based and speech-generating communication application - a suitable application for the participant is determined at the beginning of the trial. This device is used in all 12 therapy sessions and implemented by a qualified speech pathologist in a natural, play-based setting.
Other Names:
  • augmentative and alternative communication
  • communication device
Other: Control
Participants will continue their current model of care. This means that if participants are receiving speech therapy locally, they may continue to do so given that no speech-generating device is introduced or used during this time. Participants will check in with the researching clinician at least once a week via telehealth or phone call - the aim is to stay in contact with families and reduce loss to follow-up. The clinician will also monitor treatment integrity and document any differences that may be present during this phase.
Other Names:
  • Usual care

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Changes in the frequency of target communicative act related to the patient-defined outcome determined at the beginning of the trial
Time Frame: Baseline, Week 0, Week 6 and Week 12
Each participant will have specific communicative acts related to a patient-defined outcome determined at the beginning of the trial with each participant and their family. This means that each participant will have an individualised communication outcome which will be targeted during treatment sessions. The change in frequency of these specific communicative acts will be measured. The mean difference of each period (comparing the start to end of the phase) will be determined and compared between the 2 periods.
Baseline, Week 0, Week 6 and Week 12

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Changes in overall communicative acts
Time Frame: Baseline, Week 0, Week 6 and Week 12
Changes in overall communicative acts measured through the difference in total number of all communicative acts observed between the two periods. This will be measured by the overall number of communicative acts observed during an assessment session regardless of the relation to the patient-defined outcome. The change in the total score between the start and the end of each period will be calculated for each participant. The mean difference in the change in total score between the two periods will then be calculated.
Baseline, Week 0, Week 6 and Week 12
Changes in family and caregiver impact assessed via semi-structured interviews
Time Frame: Baseline, Week 6 and Week 12
Changes in parent satisfaction, social impact and the mental health of caregivers will be assessed using a semi-structured interview as seen in Vogel et al. (2016), completed at baseline and at the end of each phase. Thematic analysis will be used to identify any themes that are present during these interviews and descriptively compare the differences identified.
Baseline, Week 6 and Week 12
Changes in parent-reported communication via the Communication Matrix total score
Time Frame: Baseline, Week 0, Week 6 and Week 12
Changes in parent-reported communication skills will be measured using the Communication Matrix total score. For each participant the change in the total score between the start and the end of each period will be calculated. The mean difference in the total score between the two periods will then be calculated. The Communication Matrix allows for the quantification of reported behaviours, e.g. the total score is calculated by scoring each cell in the Matrix (each cell representing a communication behaviour at a particular level of communication). Each cell is scored with 0 (Not used), 1 (Emerging - inconsistently used) or 2 (Mastered - used proficiently at all times). These points are summed to obtain a score between 0 to 160 and a percentage is obtained to represent the proportion of communication behaviours Mastered.
Baseline, Week 0, Week 6 and Week 12
Changes in family and caregiver impact assessed via the Family Impact of Assistive Technology Scale for Augmentative and Alternative Communication (FIATS-AAC)
Time Frame: Baseline, Week 0, Week 6 and Week 12
Changes in parent satisfaction, social impact and the mental health of caregivers will be assessed using the Family Impact of Assistive Technology Scale for Augmentative and Alternative Communication (FIATS-AAC). Each item is scored on a 7-point Likert scale and assigned into one of the 13 domains (Behavior, Caregiver Relief, Contentment, Doing Activities, Education, Energy, Face-to-Face Communication, Family Roles, Finances, Security, Self Reliance, Social Versatility, Supervision). The mean score for each domain (ranging between 1 to 7) are added together to produce the total score (ranging between 13 to 91). A higher domain score suggests a higher (more positive) functional level of that specific domain. The change in scores between the start and the end of each period will be calculated for each participant. The mean difference in the score between the two periods will then be calculated.
Baseline, Week 0, Week 6 and Week 12
Changes in Language / Communication Competence assessed via the Low-Verbal Investigatory Survey
Time Frame: Baseline, Week 0, Week 6 and Week 12
Changes in the language and communication competence between the start and the end of each period for each participant will be determined via the Low-Verbal Investigatory Survey (LVIS). The survey produces a Verbal Communication score (between 0 to 15), an Alternative Communication score (between 0 to 11) and a Nonverbal Communication score (between 0 to 5). A higher score suggests greater communication competence in each of those areas. The mean differences in the LVIS scores between the two periods will then be calculated.
Baseline, Week 0, Week 6 and Week 12

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Murdoch Childrens Research Institute

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 3, 2025

Primary Completion (Estimated)

May 1, 2027

Study Completion (Estimated)

May 1, 2027

Study Registration Dates

First Submitted

June 18, 2025

First Submitted That Met QC Criteria

June 25, 2025

First Posted (Actual)

June 26, 2025

Study Record Updates

Last Update Posted (Actual)

May 26, 2026

Last Update Submitted That Met QC Criteria

May 21, 2026

Last Verified

September 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 115839

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

The de-identified data set collected for the analysis of this trial will be made available 12 months following analysis and publication of the primary outcome. The following will be made available long-term for use by future researchers from a recognised research institution:

  • Individual participant data that underlie the results reported after anonymisation/deidentification (text, tables, figures and appendices),
  • Trial protocol, Participant Information and Consent Form (PICF),
  • Statistical Analysis Plan (SAP), statistical code. Note that the data sharing of de-identified speech and language data is an Optional Consent for participants.

IPD Sharing Time Frame

12 months after publication of primary outcome

IPD Sharing Access Criteria

Interested researchers may request access to the data by submitting a formal data sharing request to the Sponsor. The request will be reviewed by the Sponsor and the Sponsor-Investigator, and any relevant Murdoch Children's Research Institute (MCRI) data sharing committee, considering factors such as scientific merit, data security, and adherence to the approved research objectives. The data may be obtained from MCRI by emailing mctc@mcri.edu.au

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • SAP
  • ICF
  • ANALYTIC_CODE

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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