Exploring Lived Experiences of Families of Children With Spinal Muscular Atrophy(SMA) Type 1 Regarding Feeding and Communication

NCT07596277 | Not Yet Recruiting

• 1 other identifier: 358595
• Study Type: observational
• Target: 15
• Locations: 1 country
• Sites: 1

Brief Summary

Spinal Muscular Atrophy Type 1 (SMA )Type 1 is a severe, early-onset neuromuscular condition that typically leads to profound weakness and impaired bulbar function-affecting swallowing, feeding, speech, and airway protection. Historically, bulbar decline contributed significantly to early morbidity and mortality. The advent of disease-modifying therapies (DMTs) such as nusinersen, zolgensma and risdiplam (also known as Spinraza, Zolgensma, and Evrysdi) sinersinhas altered the clinical course of SMA Type 1, with emerging evidence of motor improvement and increased survival. However, the impact of these therapies on bulbar function remains poorly understood, and standardised tools for its assessment are lacking. Qualitative research which uses interviews with parents and carers offers an opportunity to capture nuanced caregiver perspectives, identify meaningful functional outcomes, and explore daily lived experiences in a way quantitative tools currently cannot. This study will investigate the lived experiences of families managing feeding and communication in children with SMA Type 1. The research will also aim to 1 Identify emotional, social issues experienced by families and practical support needs related to feeding and communication. 2\. Provide insights that can inform healthcare interventions and support

Conditions

Spinal Muscular Atrophy 1

Keywords

Spinal Muscular Atrophy 1; Bulbar function; eating and drinking; dysphagia; Communication; speech; language

Outcome Measures

Primary Outcomes (1)

• Qualitative themes describing caregiver experiences of feeding and communication in children with SMA Type 1.

  The primary outcome is the set of emergent qualitative themes describing caregiver experiences of feeding and communication in children with SMA Type 1. Data will be collected via a single semi-structured interview per participant (approximately one hour) conducted post-consent, and analysed using inductive thematic analysis (NVivo) following completion of data collection.

  From interview to completion of thematic analysis 2 weeks later

Secondary Outcomes (1)

• Broader issues

  From interview to 2 weeks after when thematic analysis is completed

Study Arms (1)

Parents/guardians of children with a diagnosis of SMA1

Parents/guardians of children with a diagnosis of SMA1 who have received any one or more disease modifying therapies Participants need to be able to carry out interview in English In addition to parents, grandparents or other relatives with full parental responsibility will be included

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Parent/carers of children with SMA1 who have had a disease modifying treatment

You may qualify if:

• Parents/guardians of children with a diagnosis of SMA1 who have received any one or more disease modifying therapies\[CE7.1\]\[BA7.2\]\[AB7.3\] Participants need to be able to carry out interview in English In addition to parents, grandparents or other relatives with full parental responsibility will be included

You may not qualify if:

• Parents/carers who require an interpreter will not be included within the study for reasons of time and cost and because parents may feel less able to be open and honest when communicating with the researcher through a third party.
• Primary carer who is a foster carer or corporate parent (i.e. a looked after child) as they are not likely to have the same decision-making 'freedoms'.

Sponsors & Collaborators

• Guy's and St Thomas' NHS Foundation Trust: lead

Study Sites (1)

GSTT Evelina Neurosciences

London, SE1 7EU, United Kingdom

Location

MeSH Terms

Conditions

Spinal Muscular Atrophies of Childhood; Deglutition Disorders; Communication; Speech; Language

Condition Hierarchy (Ancestors)

Muscular Atrophy, Spinal; Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Motor Neuron Disease; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Esophageal Diseases; Gastrointestinal Diseases; Digestive System Diseases; Pharyngeal Diseases; Otorhinolaryngologic Diseases; Behavior; Verbal Behavior

Central Study Contacts

Anne Breaks, PhD

CONTACT

+447808723798; anne.breaks@nhs.net

Heinz Jungbluth, PhD

CONTACT

02071883998; heinz.jungbluth@nhs.net

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 13, 2026
• First Posted: May 19, 2026
• Study Start (Estimated): June 19, 2026
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): November 1, 2026
• Last Updated: May 19, 2026

Record last verified: 2026-05

Locations

GB (1)