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Trial registered on ANZCTR

Registration number

ACTRN12624000579594p

Ethics application status

Submitted, not yet approved

Date submitted

31/01/2024

Date registered

7/05/2024

Date last updated

7/05/2024

Date data sharing statement initially provided

7/05/2024

Type of registration

Prospectively registered

Titles & IDs

Public title

RARE FINDS: An evidence based early motor intervention approach for young children with rare disease

Scientific title

RARE FINDS: The effectiveness of an evidence based early motor intervention approach on motor outcomes and goal attainment in young children with rare disease

Secondary ID [1]

None

Universal Trial Number (UTN)

Trial acronym

Linked study record

Health condition

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

Rare Disease

Condition category

Condition code

Physical Medicine / Rehabilitation

Physiotherapy

Human Genetics and Inherited Disorders

Other human genetics and inherited disorders

Neurological

Other neurological disorders

Musculoskeletal

Other muscular and skeletal disorders

Cardiovascular

Other cardiovascular diseases

Intervention/exposure

Study type

Interventional

Description of intervention(s) / exposure

In the RARE FINDS study, Early intervention will be provided in accordance with the RARE FINDS principles including routine based intervention based on activity and participation, through repetition and practice, focused on education and empowerment, family centered and individualised provided within natural settings guided by developmentally appropriate assessment and commenced as soon as possible. Participants will be allocated a randomised A-phase (baseline A-phase, occurring before the intervention and maintenance A-phase, occurring after the intervention ) of the study of either 3, 4 or 5 weeks duration. During both A-phases of the study, participants will not receive intervention, only weekly assessment of the target behaviour measures. The intervention will occur in the B-phase of the study (after baseline A-phase and before maintenance A-phase) will be provided by an experienced Physiotherapist or Occupational Therapist. Intervention will be delivered in 8 face to face sessions within the home environment over the course of 8 weeks. Each session will be of 60minutes duration. Intervention will be individualised to the child's goal which will be determined in the goal setting stage of the study prior to the commencement of the baseline A-phase. Goals will be set using the RARE FINDS Goal Setting Template which will describe what the SMART goal is, how it will be achieved and the timeframe. Goals for this age group will typically relate to gross motor tasks such as transitioning between positions on and off the floor, ambulating independent or with assistance or negotiating steps or uneven surfaces. Therapists involved with the child will conduct an assessment as part of the study to determine contributing factors which may lead to challenges experienced around the goal i.e. low muscle tone, weakness etc, All interventions will involve a motor learning component based on the principles of motor learning and dynamic systems theory. Therefore, intervention will include upskilling of the caregiver regarding activities of daily living that can be modified to encourage child initiated movement and participation of the child within the task, reduce caregiver handling and facilitation associated with maintaining a position or posture, enhance the use of environmental cues and supports to encourage child initiated movement. The therapist will aim to use equipment and resources such as toys, furniture and surfaces available in the child's home environment rather than bringing external items into the home. The way in which the family and therapist will work together will be based on a family centered approach whereby the therapist will work with the family during the session for the entire duration to identify activities that the child can practice during daily routines to enhance their opportunity to practice skills related to their goal. Any handling or facilitation of activities will be first demonstrated by the therapist followed by caregiver practice with coaching support from the therapist to ensure the caregiver feels empowered and knowledgeable of the strategies that will be put in place. Recommendations will be captured in a home activities program which will updated and provided to the family after each session. An activity log will be used to evaluated adherence to the intervention including the number of sessions the child participates in over the course of the intervention period, the amount of practice the child engages in outside of session based intervention and any other alternative intervention or activity the child engages in during the week.

Intervention code [1]

Rehabilitation

Comparator / control treatment

Each participant will act as their own control. All participants will have a randomised baseline A-phase and maintenance A-phase period of 3, 4 or 5 weeks. The length of each participants A-phase (baseline and maintenance will be the same i.e. if baseline A-phase is 3 weeks duration, maintenance A-phase will also be 3 weeks duration for the same participant). During the A-phase (before and after the intervention or B-phase) participants will not receive intervention, only weekly target behaviour measures. Each participant will have a B-phase of 8 weeks duration.

Control group

Active

Outcomes

Primary outcome [1]

Goal Attainment Scale (GAS)

Timepoint [1]

The GAS will be measured every week of the study commencing in the baseline phase as a weekly target behaviour measure (3-5 weeks depending on phase length allocation), then over the intervention period weekly (8 weeks) and again weekly during the maintenance phase (3-5 weeks depending on phase length allocation). GAS will also form part of goal setting (taking place at B0, occurring prior to randomisation of the participants to A-phase duration and prior to the commencement of the baseline A-phase) and goal review (taking place at M6). M6 occurs after the end of the maintenance A-phase which is of 3-5 weeks duration depending on random allocation. Therefore, M6 can occur anytime 15 weeks post commencement of the study for a participant allocated a 3 week baseline phase or 19 weeks post study commencement for a participant allocated a 5 week baseline phase.

Primary outcome [2]

Target behaviour measures - video of child completing task specifically related to their GAS goal

Timepoint [2]

A 5-10minute video will be recorded weekly commencing commencing in the baseline phase as a weekly target behaviour measure (3-5 weeks depending on phase length allocation), then over the intervention period weekly (8 weeks) and again weekly during the maintenance phase (3-5 weeks depending on phase length allocation). The primary caregiver of the child using their smart phone and uploaded to a secure online platform on a designated day and time of the day each week.

Secondary outcome [1]

Peabody Developmental Motor Scale (gross motor quotient GMQ) - 3rd edition (PDMS-3)

Timepoint [1]

The PDMS-3 will be measured before the baseline (A-phase) B0, prior to intervention (B-phase) commencing Pre-Rx (B-phase), prior to the start of the maintenance (A-phase) Post-Rx (Post-Rx) and prior to exit and goal review at after the maintenance (A-phase) has been completed, M6. M6 occurs after the end of the maintenance A-phase which is of 3-5 weeks duration depending on random allocation. Therefore, M6 can occur anytime 15 weeks post commencement of the study for a participant allocated a 3 week baseline phase or 19 weeks post study commencement for a participant allocated a 5 week baseline phase.

Secondary outcome [2]

Canadian Occupational Performance Measure (COPM)

Timepoint [2]

The COPM will be measured before the baseline (A-phase) B0, prior to intervention (B-phase) commencing Pre-Rx (B-phase), prior to the start of the maintenance (A-phase) Post-Rx (Post-Rx) and prior to exit and goal review at after the maintenance (A-phase) has been completed, M6. M6 occurs after the end of the maintenance A-phase which is of 3-5 weeks duration depending on random allocation. Therefore, M6 can occur anytime 15 weeks post commencement of the study for a participant allocated a 3 week baseline phase or 19 weeks post study commencement for a participant allocated a 5 week baseline phase.

Secondary outcome [3]

Young Children's Participation and Environment Measure (YC-PEM)

Timepoint [3]

The YC-PEM will be measured before the baseline (A-phase) B0, prior to intervention (B-phase) commencing Pre-Rx (B-phase), prior to the start of the maintenance (A-phase) Post-Rx (Post-Rx) and prior to exit and goal review at after the maintenance (A-phase) has been completed, M6. M6 occurs after the end of the maintenance A-phase which is of 3-5 weeks duration depending on random allocation. Therefore, M6 can occur anytime 15 weeks post commencement of the study for a participant allocated a 3 week baseline phase or 19 weeks post study commencement for a participant allocated a 5 week baseline phase.

Secondary outcome [4]

Gross Motor Function Measure 88 item (GMFM-88)

Timepoint [4]

The GMFM-88 will be measured before the baseline (A-phase) B0, prior to intervention (B-phase) commencing Pre-Rx (B-phase), prior to the start of the maintenance (A-phase) Post-Rx (Post-Rx) and prior to exit and goal review at after the maintenance (A-phase) has been completed, M6.

Eligibility

Key inclusion criteria

1) children aged birth to five years old (by the time the study is completed);
2) live within a 50-kilometre radius of the Perth central business district (CBD) in Western Australia;
3) the child’s primary caregivers must be able to read and understand English without the use of an interpreter;
4) children must not currently be receiving therapy services funded by the Australian National Disability Insurance Scheme (NDIS) or other federal or state government funded scheme;
5) demonstrate significant developmental delay and/or regression as well as having received a diagnosis of a rare disease (RD), genetic or chromosomal abnormality by a medical practitioner or specialist or evidence of at least one of the risk factors commonly associated with rare disease (RD)

Rare disease are defined as those rare diseases with a prevalence rate of less than 1:2000. Risk factors commonly associated with rare disease include the following:
- Abnormal brain Magnetic Resonance Imaging (MRI) findings
- Abnormal muscle tone including hypertonia, hypotonia, ataxia, dystonia and/or spasticity
- Congenital malformations or anomalies including craniofacial anomalies
- Diagnosed hearing and/or visual impairment
- Feeding difficulty and/or Failure to thrive (FTT)
- Hydrocephalus or Microcephaly
- Musculoskeletal anomalies i.e. short stature, limb deformity, spinal deformity
- One or more birth defect
- Proximal and/or distal muscle weakness or muscle atrophy or myopathy
- Prenatal Intrauterine Growth Restriction (IUGR)
- Systematic illness i.e. cardiovascular problems, metabolic disorders

Minimum age

0 Years

Maximum age

5 Years

Sex

Both males and females

Can healthy volunteers participate?

Key exclusion criteria

1) children with a diagnosis that is not considered a RD i.e. those diseases with a prevalence rate of greater than 1:2000 such as cerebral palsy or down syndrome (this is an important part of our exclusion criteria)
2) children who are medically unstable or have been advised against participating in therapy by their primary physician

Study design

Purpose of the study

Treatment

Allocation to intervention

Randomised controlled trial

Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)

Each participant will receive their baseline allocation via email which will be sent by the lead author and saved in a password protected folder that cannot be accessed by the therapists who are delivering the intervention phase of the study.

Methods used to generate the sequence in which subjects will be randomised (sequence generation)

Allocation of the A-phase duration (for both baseline A-phase and maintenance A-phase) for each participant (will be conducted via computer generated randomisation.

Masking / blinding

Blinded (masking used)

Who is / are masked / blinded?

The people administering the treatment/s
The people assessing the outcomes

Intervention assignment

Other design features

Phase

Not Applicable

Type of endpoint/s

Efficacy

Statistical methods / analysis

We require a minimum of 3 participants in order to collect data as per the recommendations of study design for a SCED. We use both statistical and visual graph analysis methods to collate the data recorded. Baseline characteristics will also be analysed for both parent and caregiver characteristics. Analysis of the feedback gained from the exit interview process and co-design workshop round table discussion into key themes.

Recruitment

Recruitment status

Not yet recruiting

Date of first participant enrolment

Anticipated

10/06/2024

Actual

Date of last participant enrolment

Anticipated

28/06/2024

Actual

Date of last data collection

Anticipated

9/09/2024

Actual

Sample size

Target

Accrual to date

Final

Recruitment in Australia

Recruitment state(s)

Funding & Sponsors

Funding source category [1]

Charities/Societies/Foundations

Name [1]

Rocky Bay Limited

Address [1]

Country [1]

Australia

Primary sponsor type

University

Name

Curtin University

Address

Country

Australia

Secondary sponsor category [1]

None

Name [1]

Address [1]

Country [1]

Ethics approval

Ethics application status

Submitted, not yet approved

Ethics committee name [1]

Curtin University Human Research Ethics Committee

Ethics committee address [1]

https://www.curtin.edu.au/students/essentials/higher-degree-by-research/ethics-safety/human/

Ethics committee country [1]

Australia

Date submitted for ethics approval [1]

05/02/2024

Approval date [1]

Ethics approval number [1]

Summary

Brief summary

This study aims to use a Single-Case Experimental Design (SCED) in accordance with SCRIBE (Single-Case Reporting guideline In BEhavioural interventions) to investigate the efficacy of the RARE FINDS (Routine-based intervention, Activity and participation, Repetition and practice, Empowerment and education, Family centered, Individualised, Natural settings, Developmentally appropriate assessment, Start as early as possible) early intervention principles in improving gross motor function and goal attainment for young children living with or at risk of a rare disease (RD). Once the SCED has been completed, families involved in the study will be asked to participate in a 1/2 day workshop style co-design round table discussion which will form part of the qualitative review process of the study, aiming to refine the assessment and intervention components of the study for future studies.

Trial website

Trial related presentations / publications

Public notes

Contacts

Principal investigator

Name

Mrs Cristina Lee

Address

Rocky Bay Ltd PO Box 53, Mosman Park, WA 6912

Country

Australia

Phone

+61423752206

Fax

[email protected]

Contact person for public queries

Name

Cristina Lee

Address

Rocky Bay Ltd PO Box 53, Mosman Park, WA 6912

Country

Australia

Phone

+61423752206

Fax

[email protected]

Contact person for scientific queries

Name

Cristina Lee

Address

Rocky Bay Ltd PO Box 53, Mosman Park, WA 6912

Country

Australia

Phone

+61423752206

Fax

[email protected]

Data sharing statement

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

Yes

What data in particular will be shared?

Baseline characteristics all deidentified, GAS goal sample, primary and secondary outcome measure scores

When will data be available (start and end dates)?

Once the study has been completed. No end date, data will be available for 7 years after the study has been completed.

Available to whom?

Those who read the publication as well as families

Available for what types of analyses?

Statistical and visual graph analysis

How or where can data be obtained?

By contacting the author. Lead Author Cristina Lee, [email protected]

What supporting documents are/will be available?

Doc. No.	Type	Citation	Link	Email	Other Details	Attachment
21551	Informed consent form					382658-(Uploaded-14-02-2024-14-53-02)-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

No additional documents have been identified.

Trial Review

Documents added manually

Documents added automatically