Clinical trial NCT05488938: Intensive Anti-Scoliosis Postural Intervention for Individuals With Rett Syndrome Supported by a Smartphone Application
Official title: An Intensive Anti-Scoliosis Postural Intervention Supported by an Application for Individuals With Rett Syndrome
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Rett Syndrome
Keywords: Rett Syndrome
Scoliosis
Exercise Therapy
Physical Therapy Modalities
Lead sponsor: Ariel University
Sponsor class: OTHER
Collaborators: name: ASST Santi Paolo e Carlo
First posted: 2022-08-05
Enrollment: 20
Sex: FEMALE
Minimum age (years): 6
Maximum age (years): 16
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: CROSSOVER
Primary purpose: TREATMENT

Brief summary: Background: Scoliosis is the most common orthopedic comorbidity in Rett syndrome (RTT), with a prevalence of 94% and a mean curve progression of 14-21° Cobb annually. A scoliosis prevention intervention based on daily activity programs was proposed for people with RTT within uncontrolled study designs.

Aim: The current study aims to evaluate the effectiveness of a home-based activity program carried out during daily life to slow the progression of scoliosis in girls with RTT.

Ethics: The proposal was approved by Ariel university IRB. All participants' parents will sign informed consent forms.

Participants: Twenty Italian girls aged between six and 16 years with a genetically confirmed classic RTT and scoliosis at a severity level between 10° and 40° Cobb will be recruited and randomly divided into two groups (immediate intervention - Group 1; wait-list-intervention - Group 2). Both groups will follow the same 10-month intervention program, 10 months apart.

Outcome measures: Participants' scoliosis Cobb's angle, motor functioning, and behavioral characteristics will be assessed three times.

Procedure: Each participant will be evaluated three times: at T1, T2, and T3. Participants in the Group 1 will conduct the intervention for 10 months between T0 and T1. Group 2 will perform the intervention between T1 and T2. The interventions will comprise daily home-based activity programs carried out by participants' caregivers within everyday living environments. An expert therapist will remotely supervise each program through an ad hoc developed smartphone application. Specific strategies that will be implemented during the intervention will include the maintenance of asymmetrical postures that oppose the scoliosis curve during activities and exercises in sitting, standing, and walking positions (according to each participant's functional abilities). These strategies refer to a hypercorrective postural positioning of scoliosis. In addition, activities involving weight bearing on the lower limbs, such as walking and standing for at least two hours a day, will be encouraged, and passive stretching and spinal mobilization exercises will be conducted.

Detailed description: Study Aims The current study aims to evaluate the effectiveness of an anti-scoliotic physiotherapy program carried out during daily life and focuses on hypercorrective postures and increasing the level of activity to assess whether or not it is possible to slow the progression of scoliosis in girls with Rett syndrome (RTT).

The current research project has the following research objectives:

* Primary objectives:

  1. Build, implement and evaluate a physiotherapy program for contrasting scoliosis trajectory adapted to individuals with RTT;
  2. Develop a secondary deformity prevention program through early intervention for people with RTT.
* Secondary objectives:

  1. Build and evaluate the efficiency of a support application for carrying out rehabilitation exercises;
  2. Explore the factors influencing adherence and implementation of intervention from the perspective of both families and therapists in light abovementioned applicationd above.

Study Design A randomized controlled study with a waiting list design will be applied.

Ethical Issues The Ariel University Institutional Review Board (IRB) approved the study (no. AU-HEA-ML-20201019) that will be conducted according to the ethical principles of the Helsinki Declaration and local regulations. All details relating to the study procedure will be discussed with participants' parents or legal representatives, and an informed consent form will be signed for participation. Enrolment will be voluntary, with participants not receiving any financial or otherwise incentives for participation.

Study Population According to a sample size calculation analysis, a group of 20 girls aged between six and 16 years with genetically confirmed classic RTT and scoliosis will be recruited from the San Paolo Hospital (Milan, Italy) or the Italian Rett Association (AIRett - Verona, Italy).

Procedure The participants' parents will receive an information sheet regarding the study and informed consent for participating and collecting video materials at the recruitment. A reference telephone number and an e-mail address will be provided to be contacted in case they would like further information or would like to communicate the exit from the study. The eligibility of the candidates will be assessed at the time of recruitment (T1) through an initial neurological or physiatrist evaluation. At the same time, each participant will undergo a rehabilitation evaluation to collect the outcome measures (see section "Data collection") and create an individualized intervention plan specific to the participant's scoliosis, functional abilities, and parental/educational setting's availability. During the evaluation, the postural needs of the participants will also be identified, and a qualified technician will build or adjust the positioning devices, making them suitable for each intervention plan. Participating girls will be randomly divided into treatment (Group 1) or delayed treatment (Group 2) groups using block randomization. Participants in Group 1 will begin carrying out the rehabilitation program immediately after the first assessment session (T1). Each program will require the daily performance of different postures and therapeutic activities at the girls' educational facilities and homes, based on the availability of families, for 10 months. Specific strategies that will be implemented will include maintaining asymmetrical postures that oppose the scoliosis curve during activities and exercises in sitting, standing, and walking positions (according to each participant's functional abilities). These strategies refer to a hypercorrective postural positioning of scoliosis. In addition, activities involving weight bearing on the lower limbs, such as walking and standing for at least two hours a day, will be encouraged, and passive stretching and spinal mobilization exercises will be conducted.

Participants' parents and local reference physiotherapists who will supervise the program in the educational or home setting will be involved in training sessions to learn the performance of the child's program activities. In addition, a smartphone "ActivRett" activity application will be constructed for this research. The application will be downloaded and used by the group that takes care of each participant. It will contain the participant's individualized therapeutic indications and allow the collection of data relating to the development and execution of the program. Further support for parents, caregivers, and therapists will be provided via Skype by an Italian therapist (AR) experienced in treating individuals with RTT at the program's start and every two months. These meetings will discuss the program's progress, solve problems, reorganize schedules, adjust the suggested exercises, assess the achievement of objectives, and if needed, set other goals.

At the end of the intervention of Group 1 (10 months after its start), the outcome measures will be collected again for all participants (T2), and those in group 1 will be allowed to continue using the application without receiving the Skype mentioned above calls. Then, those included in Group 2 will be reevaluated and actively participate in the planned intervention, which will be carried out for the second period of 10 months. At the end of the intervention phase of Group 2, the outcome measures will be collected again for all participants (T3), and the data obtained will be analyzed by the researchers. At the end of each intervention phase, a specific questionnaire will be administered to the parents, therapists, teachers, and other caregivers involved in the intervention program mentioned above to assess the participants' satisfaction with different aspects of the intervention.

Data analysis The normality of each variable's distribution will be assessed using the Shapiro-Wilk normality test. The ages, amount of received physical rehabilitation interventions, scoliotic curve degrees, behavioral characteristics, and activity and gross motor functional levels obtained at T1 will be compared between the two groups to assess their comparability through Wilcoxon's signed-rank test or Student's T-test (dependent of the variable distribution characteristics). Changes in the variables of each group at T1, T2, and T3 will be evaluated with Friedman's test or with the repeated measure ANOVA (dependent on the variable distribution characteristics). Between groups comparison for each variable collected at T1, T2, and T3 and for their variations that occurred between T1 and T2 and between T2 and T3 will be conducted using the Wilcoxon's signed-rank test or Student's T-test (dependent on the variable distribution characteristics), applying an appropriate adjustment for the age and gross motor skills of the participants. Relations will be searched between variables collected at T1 and the changes in the scoliosis curve degree and motor functioning after the treatment using Spearman's rank correlation coefficient or Pearson's correlation coefficient (dependent on the variable distribution characteristics). Moreover, a relation between the compliance with the proposed program and the changes in the scoliosis curve degree and motor functioning after the treatment will be searched using Spearman's rank correlation coefficient or Pearson's correlation coefficient (dependent on the variable distribution characteristics). The threshold for significance of the above-described analyses will be set at α = 0.05. No correction for multiple comparisons will be applied.

Eligibility criteria: Inclusion Criteria:

* Diagnosis of RTT with confirmed MECP2 gene mutation;
* Diagnosis of unstructured flexible scoliosis (Cobb angle between 10° and 40°) measured radiologically with an x-ray performed no more than six months before the recruitment;
* Age between 6 and 16 years.

Exclusion Criteria:

* Presence of psychomotor developmental deficit evidenced in the first six months of life or diseases of neurometabolic, infectious, or secondary brain damage trauma origin;
* Previous surgical intervention to the spine or its planning within the study period;
* Use of a corset during most waking hours;
* Clinical judgment of the evaluating specialist doctor who certifies unstable health conditions that are not compatible with the performance of the rehabilitation program (e.g., ongoing or recurrent infections, severe gastrointestinal disorders, drug-resistant epilepsy with multi-day seizures).
* Clinical judgment of the research team suggesting an inability of the home environment to perform the intervention program (change in residence, a planned pregnancy, a pre-planned complex surgical/medical procedure within the period of the planned intervention program for the child or family member) within the intervention period.

Primary outcomes:
measure: Scoliosis progression
timeFrame: Three days 10 months apart from each other, before the start of the Group 1 intervention (T1), before the start of the Group 2 intervention (T2), and at the end of the Group 2 intervention (T3).
measure: Adherence to the Program
timeFrame: 10 months during the Group 1 intervention phase.
measure: Adherence to the Program
timeFrame: 10 months during the Group 2 intervention phase.
Secondary outcomes:
measure: Gross Motor Function Level
timeFrame: 30 minutes, before the beginning of the Group 1 intervention.
measure: Gross Motor Function Level
timeFrame: 30 minutes, before the beginning of the Group 2 intervention.
measure: Gross Motor Function Level
timeFrame: 30 minutes, at the end of the Group 2 intervention.
measure: Behavioral Characteristics
timeFrame: 15 minutes, before the beginning of the Group 1 intervention.
measure: Behavioral Characteristics
timeFrame: 15 minutes, before the beginning of the Group 2 intervention.
measure: Behavioral Characteristics
timeFrame: 15 minutes, at the end of the Group 2 intervention.
measure: Caregivers' Burden
timeFrame: 15 minutes, at the end of the Group 1 intervention.
measure: Caregivers' Burden
timeFrame: 15 minutes, at the end of the Group 2 intervention.
Other outcomes:
Locations:
city: Verona
country: Italy
facility: Centro AIRETT Ricerca e Innovazione (CARI)
Study officials:
affiliation: Department of Physiotherapy, School of Health Sciences, Ariel University
name: Meir Lotan, PhD
role: PRINCIPAL_INVESTIGATOR
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