Spinal Muscular AtrophyNCT07547189
Effects of Developmental Support for Mothers of Infants With Spinal Muscular Atrophy
A study testing Online Early Intervention Program for Infants with SMA Type 1 in people with Spinal Muscular Atrophy and Developmental Delay, run by Medipol University at 1 site in Turkey (Türkiye).
Trial summary
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder causing progressive muscle weakness and atrophy. This mixed-methods study aims to provide developmental support to mothers of infants (aged 12-36 months) with SMA Type 1 and to evaluate its impact on infants' developmental outcomes and… Read more about this study
- Who is it for?
- Ages 12 to 36 months
- Conditions the study is for
- Spinal Muscular Atrophy, Developmental Delay
- What is being tested?
- Online Early Intervention Program for Infants with SMA Type 1
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 8 Apr 2026to 3 Jul 2026
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 12 to 36 months
- All sexes
- No healthy volunteers
- Child
Inclusion Criteria Infants/children aged 12-36 months diagnosed with SMA Type 1 Infants/children receiving or having previously received any approved pharmacological treatment for SMA Type 1 Infants/children not receiving any developmental support intervention other than routine physical therapy and swallowing therapy Mothers who are the primary caregivers of the infants/children Mothers who are able to communicate in Turkish Mothers who voluntarily provide written informed consent and agree to participate in the intervention program
Exclusion Criteria Infants/children with a tracheostomy Infants/children younger than 12 months or older than 36 months Infants/children receiving any developmental intervention other than routine physical therapy and swallowing therapy Mothers who decline participation or withdraw informed consent
Trial locations and contacts
1 site in 1 country.
Turkey (Türkiye)1 site
ISTANBUL MEDIPOL UNIVERSITY - Department of Child Development
Istanbul, Beykoz
About this study
Official title: The Effect of Developmental Support Provided to Mothers of Infants/Children Diagnosed With Spinal Muscular Atrophy (SMA) on the Development of Their Infants/Children and on Mothers' Developmental Knowledge
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder causing progressive muscle weakness and atrophy. This mixed-methods study aims to provide developmental support to mothers of infants (aged 12-36 months) with SMA Type 1 and to evaluate its impact on infants' developmental outcomes and mothers' developmental knowledge.
Participants included eight mothers of infants/children diagnosed with SMA Type 1 who were recruited through purposive sampling from a university hospital. Quantitative data were collected using a General Information Form, the Ages and Stages Questionnaires (ASQ), the Ages and Stages Questionnaires: Social-Emotional (ASQ-SE), and the Caregiver Knowledge of Child Development Inventory (CKCDI). Qualitative data were obtained through semi-structured interviews exploring mothers' experiences with the developmental support program.
The intervention consisted of a 12-week online developmental support program delivered once a week for 90 minutes. Outcome assessments were conducted at baseline, immediately after the intervention, and four weeks after the intervention (follow-up assessment) to evaluate the sustainability of the intervention effects.
Read the detailed description
Aim of the Study
Spinal Muscular Atrophy (SMA) is a progressive, hereditary neuromuscular disorder primarily characterized by motor neuron degeneration due to SMN protein deficiency. Although recent advances in pharmacological treatments and newborn screening programs have significantly improved survival rates and disease prognosis, the literature remains predominantly focused on motor and respiratory outcomes. Consequently, limited attention has been given to the overall developmental trajectories of children with SMA, particularly in the domains of cognitive, language, social-emotional, and behavioral development.
As life expectancy increases and symptom severity decreases with early diagnosis and treatment, new questions have emerged regarding how SMA affects children's broader developmental processes and how environmental limitations, restricted mobility, communication difficulties, and prolonged medical care may influence cognitive and language acquisition. Existing findings are contradictory: some studies report normal or even above-average cognitive performance, while others highlight deficits in attention, executive functioning, and communication-especially in children with SMA Type I and II. Moreover, research addressing parental knowledge, parent-child interaction quality, and developmental guidance remains scarce, despite evidence that parental stress, uncertainty, and insufficient information significantly affect family well-being. To comprehensively assess, monitor, and support the overall development of children aged 12-36 months diagnosed with SMA and receiving treatment, through structured developmental guidance provided to their parents. Identify developmental needs across all developmental domains rather than focusing solely on motor skills, Strengthen parents' knowledge of child development and improve the quality of parent-child interactions, Provide developmental follow-up integrated into multidisciplinary SMA care, Contribute to the limited national and international literature addressing holistic developmental monitoring in children with SMA.
Methodological Framework of the Study
This study is designed within a pre-test - post-test - follow-up (retention) experimental framework focusing on early childhood developmental support delivered through parents. Children aged 12-36 months diagnosed with SMA Type 1 and currently receiving treatment, Their primary caregivers (mothers/parents).
Procedure
Pre-Assessment (Pre-test): Comprehensive developmental evaluation of children across motor, cognitive, language, social-emotional, and adaptive domains using standardized developmental assessment tools.
Assessment of mothers' developmental knowledge using the Caregiver Knowledge of Child Development Inventory (CKCDI).
Intervention Phase (Developmental Parental Guidance Program): Parents receive structured developmental guidance tailored to the child's SMA type, developmental profile, and needs.
Guidance includes: Enriching the home environment, Supporting parent-child interaction, Providing stimulation strategies for cognitive and language development, Reducing the negative impact of environmental restrictions and screen exposure, Teaching parents how to observe, support, and monitor developmental progress.
Post-Assessment (Post-test): Re-evaluation of children's overall development, Re-assessment of parental knowledge and interaction quality. Follow-up Assessment (Retention Test): Examination of the sustainability of developmental gains and parental knowledge over time.
When parents of children with SMA are provided with structured developmental knowledge and guidance, they can compensate for environmental limitations caused by the disease and actively support their children's cognitive, language, social, and emotional development, in addition to motor development.
Expected Contribution
This study differs from previous SMA research by: Moving beyond prognosis and motor outcomes, Systematically evaluating all developmental domains, Integrating developmental monitoring into SMA care, Positioning parents as active developmental partners, Providing an early intervention model specific to children with SMA.
The study is expected to contribute significantly to both national and international literature by proposing a holistic, development-oriented, family-centered model for children living with SMA.
- Conditions
- Spinal Muscular Atrophy, Developmental Delay
- Being tested
- Online Early Intervention Program for Infants with SMA Type 1
- Keywords
- Spinal Muscular Atrophy, Baby, Developmental Support, Parent Education
- Medical subject headings
- Muscular Atrophy, Spinal, Learning Disabilities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Online Early Intervention Program for Infants with SMA Type 1Behavioural
Also called SMA Type 1 Early Intervention Program
A 12-week online early intervention program designed and implemented by the researcher for mothers of infants/children diagnosed with SMA Type 1. Conducted once a week for 90 minutes, the program provided education and guidance to support children's overall development, enhance mothers' developmental knowledge, and promote family-centered developmental practices. Post-intervention assessments were conducted immediately after completion of the program, followed by a follow-up assessment four weeks later.
| Study group | Role | What they receive |
|---|---|---|
| Intervention Group | Experimental | Participants' mothers received a 12-week online developmental support program designed for families of infants/children diagnosed with SMA Type 1. The program consisted of weekly 90-minute sessions and provided education and guidance on child development and family-centered developmental support. Outcome assessments were conducted at baseline, immediately after the intervention, and four weeks later (follow-up assessment). Receives: Behavioral: Online Early Intervention Program for Infants with SMA Type 1 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Developmental progress measured by the Ages and Stages Questionnaires - Turkish Adaptation (ASQ)
Developmental progress of infants aged 12-36 months diagnosed with SMA Type 1 will be assessed using ASQ. The scale evaluates communication, gross motor, fine motor, problem solving, and personal-social domains. Domain scores range from 0 to 60. Higher scores indicate better developmental performance.
Measured: Baseline, Week 12, Week 16
Social-emotional developmental progress measured by the Ages and Stages Questionnaires: Social-Emotional - Turkish Adaptation (ASQ-SE)
Social-emotional development will be assessed using ASQ-SE. Total scores range from 0 to 60. Higher scores indicate better social-emotional development.
Measured: Baseline, Week 12, Week 16
Secondary outcomes (1)
Caregiver Knowledge of Child Development Inventory "CKCDI"
Total scores range from 0 to 40. Higher scores indicate greater knowledge of child development.
Measured: Baseline, Week 12, Week 16
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Apr 2026
- Study start8 Apr 2026
- Primary completion3 Jun 2026
- Study completion3 Jul 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Medipol UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Supportive care
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Participants were enrolled in a single-group pretest-posttest-follow-up study. Mothers of infants/children diagnosed with SMA Type 1 participated in a 12-week online early intervention program consisting of weekly 90-minute sessions. Outcome assessments were conducted at baseline, immediately after the intervention, and four weeks later to evaluate the sustainability of intervention effects. The program aimed to enhance mothers' developmental knowledge and support children's communication, gross motor, fine motor, problem-solving, personal-social, and social-emotional development through a family-centered early intervention approach.
- Masking
- None (open label)
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- Medipol University
- Sponsor type
- University, hospital or other
- Collaborators
- Istanbul Medipol University Hospital
- Responsible party
- Principal investigator, Ayşıl Seda TOGUR, Medipol University
- Investigators
- Aysil S TOGUR, MSc, Principal investigator, Ankara University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07547189
- Sponsor's protocol ID
- E-10840098-202.3.02-5419
- Status last verified
- Apr 2026
- First submitted
- 28 Mar 2026
- Last updated
- 9 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: No individual participant data will be shared due to the privacy and confidentiality of infants diagnosed with SMA Type 1 and their families.
Study at a glance
From the registry record, last updated by the sponsor on 9 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Effect of Developmental Support Provided to Mothers of Infants/Children Diagnosed With Spinal Muscular Atrophy (SMA) on the Development of Their Infants/Children and on Mothers' Developmental Knowledge
- ClinicalTrials.gov ID
- NCT07547189
- Acronym / sponsor ID
- E-10840098-202.3.02-5419
- Conditions
- Spinal Muscular Atrophy, Developmental Delay
- Keywords
- Spinal Muscular Atrophy, Baby, Developmental Support, Parent Education
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Medipol UniversityUniversity, hospital or other
- Collaborators
- Istanbul Medipol University Hospital
- Study start
- 8 Apr 2026 (actual)
- Primary completion
- 3 Jun 2026 (actual)
- Study completion
- 3 Jul 2026 (actual)
- First posted
- 23 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder causing progressive muscle weakness and atrophy. This mixed-methods study aims to provide developmental support to mothers of infants (aged 12-36 months) with SMA Type 1 and to evaluate its impact on infants' developmental outcomes and mothers' developmental knowledge.
Participants included eight mothers of infants/children diagnosed with SMA Type 1 who were recruited through purposive sampling from a university hospital. Quantitative data were collected using a General Information Form, the Ages and Stages Questionnaires (ASQ), the Ages and Stages Questionnaires: Social-Emotional (ASQ-SE), and the Caregiver Knowledge of Child Development Inventory (CKCDI). Qualitative data were obtained through semi-structured interviews exploring mothers' experiences with the developmental support program.
The intervention consisted of a 12-week online developmental support program delivered once a week for 90 minutes. Outcome assessments were conducted at baseline, immediately after the intervention, and four weeks after the intervention (follow-up assessment) to evaluate the sustainability of the intervention effects.
Detailed description
Aim of the Study
Spinal Muscular Atrophy (SMA) is a progressive, hereditary neuromuscular disorder primarily characterized by motor neuron degeneration due to SMN protein deficiency. Although recent advances in pharmacological treatments and newborn screening programs have significantly improved survival rates and disease prognosis, the literature remains predominantly focused on motor and respiratory outcomes. Consequently, limited attention has been given to the overall developmental trajectories of children with SMA, particularly in the domains of cognitive, language, social-emotional, and behavioral development.
As life expectancy increases and symptom severity decreases with early diagnosis and treatment, new questions have emerged regarding how SMA affects children's broader developmental processes and how environmental limitations, restricted mobility, communication difficulties, and prolonged medical care may influence cognitive and language acquisition. Existing findings are contradictory: some studies report normal or even above-average cognitive performance, while others highlight deficits in attention, executive functioning, and communication-especially in children with SMA Type I and II. Moreover, research addressing parental knowledge, parent-child interaction quality, and developmental guidance remains scarce, despite evidence that parental stress, uncertainty, and insufficient information significantly affect family well-being. To comprehensively assess, monitor, and support the overall development of children aged 12-36 months diagnosed with SMA and receiving treatment, through structured developmental guidance provided to their parents. Identify developmental needs across all developmental domains rather than focusing solely on motor skills, Strengthen parents' knowledge of child development and improve the quality of parent-child interactions, Provide developmental follow-up integrated into multidisciplinary SMA care, Contribute to the limited national and international literature addressing holistic developmental monitoring in children with SMA.
Methodological Framework of the Study
This study is designed within a pre-test - post-test - follow-up (retention) experimental framework focusing on early childhood developmental support delivered through parents. Children aged 12-36 months diagnosed with SMA Type 1 and currently receiving treatment, Their primary caregivers (mothers/parents).
Procedure
Pre-Assessment (Pre-test): Comprehensive developmental evaluation of children across motor, cognitive, language, social-emotional, and adaptive domains using standardized developmental assessment tools.
Assessment of mothers' developmental knowledge using the Caregiver Knowledge of Child Development Inventory (CKCDI).
Intervention Phase (Developmental Parental Guidance Program): Parents receive structured developmental guidance tailored to the child's SMA type, developmental profile, and needs.
Guidance includes: Enriching the home environment, Supporting parent-child interaction, Providing stimulation strategies for cognitive and language development, Reducing the negative impact of environmental restrictions and screen exposure, Teaching parents how to observe, support, and monitor developmental progress.
Post-Assessment (Post-test): Re-evaluation of children's overall development, Re-assessment of parental knowledge and interaction quality. Follow-up Assessment (Retention Test): Examination of the sustainability of developmental gains and parental knowledge over time.
When parents of children with SMA are provided with structured developmental knowledge and guidance, they can compensate for environmental limitations caused by the disease and actively support their children's cognitive, language, social, and emotional development, in addition to motor development.
Expected Contribution
This study differs from previous SMA research by: Moving beyond prognosis and motor outcomes, Systematically evaluating all developmental domains, Integrating developmental monitoring into SMA care, Positioning parents as active developmental partners, Providing an early intervention model specific to children with SMA.
The study is expected to contribute significantly to both national and international literature by proposing a holistic, development-oriented, family-centered model for children living with SMA.
Study design
- Primary purpose
- Supportive care
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Participants were enrolled in a single-group pretest-posttest-follow-up study. Mothers of infants/children diagnosed with SMA Type 1 participated in a 12-week online early intervention program consisting of weekly 90-minute sessions. Outcome assessments were conducted at baseline, immediately after the intervention, and four weeks later to evaluate the sustainability of intervention effects. The program aimed to enhance mothers' developmental knowledge and support children's communication, gross motor, fine motor, problem-solving, personal-social, and social-emotional development through a family-centered early intervention approach.
| Arm | Type | Receives |
|---|---|---|
| Intervention Group | Experimental | Behavioral: Online Early Intervention Program for Infants with SMA Type 1Participants' mothers received a 12-week online developmental support program designed for families of infants/children diagnosed with SMA Type 1. The program consisted of weekly 90-minute sessions and provided education and guidance on child development and family-centered developmental support. Outcome assessments were conducted at baseline, immediately after the intervention, and four weeks later (follow-up assessment). |
Who may qualify
- Ages
- 12 to 36 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Online Early Intervention Program for Infants with SMA Type 1Also: SMA Type 1 Early Intervention ProgramA 12-week online early intervention program designed and implemented by the researcher for mothers of infants/children diagnosed with SMA Type 1. Conducted once a week for 90 minutes, the program provided education and guidance to support children's overall development, enhance mothers' developmental knowledge, and promote family-centered developmental practices. Post-intervention assessments were conducted immediately after completion of the program, followed by a follow-up assessment four weeks later. | Behavioural | Intervention Group |
Primary outcome
Developmental progress measured by the Ages and Stages Questionnaires - Turkish Adaptation (ASQ)
Time frame: Baseline, Week 12, Week 16
Developmental progress of infants aged 12-36 months diagnosed with SMA Type 1 will be assessed using ASQ. The scale evaluates communication, gross motor, fine motor, problem solving, and personal-social domains. Domain scores range from 0 to 60. Higher scores indicate better developmental performance.
Social-emotional developmental progress measured by the Ages and Stages Questionnaires: Social-Emotional - Turkish Adaptation (ASQ-SE)
Time frame: Baseline, Week 12, Week 16
Social-emotional development will be assessed using ASQ-SE. Total scores range from 0 to 60. Higher scores indicate better social-emotional development.
1 secondary outcome
Caregiver Knowledge of Child Development Inventory "CKCDI"
Time frame: Baseline, Week 12, Week 16
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jul 2026.
- Individual participant dataSharing planned: No. No individual participant data will be shared due to the privacy and confidentiality of infants diagnosed with SMA Type 1 and their families.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Aysil S TOGUR, MSc principal investigator
Ankara University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Online Early Intervention Program for Infants with SMA Type 1 in people with Spinal Muscular Atrophy and Developmental Delay, run by Medipol University at 1 site in Turkey (Türkiye).
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 9 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Turkey (Türkiye). Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Developmental progress measured by the Ages and Stages Questionnaires - Turkish Adaptation (ASQ) (time frame: Baseline, Week 12, Week 16). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Jul 2026.