Spinal Muscular Atrophy 1NCT07596277
Exploring Lived Experiences of Families of Children With Spinal Muscular Atrophy(SMA) Type 1 Regarding Feeding and Communication
An observational study of Spinal Muscular Atrophy 1, run by Guy's and St Thomas' NHS Foundation Trust at 1 site in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Spinal Muscular Atrophy 1
- How many people
- 15 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 19 Jun 2026to 1 Nov 2026
- Phase
- Observational
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 16 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Parent/carers of children with SMA1 who have had a disease modifying treatment
Who may be able to join
- 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
Who cannot join
- 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'.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United Kingdom1 site
GSTT Evelina Neurosciences
London, SE1 7EU
Ming Lim, PhD, 02071883992, ming.lim3@nhs.net
About this study
Official title: Lived Experiences of Families of Children With Spinal Muscular Atrophy Type 1: A Qualitative Investigation Into Feeding and Communication
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.
Read more
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.
- Provide insights that can inform healthcare interventions and support
Read the detailed description
Methodology This study will adopt a qualitative phenomenological approach to gain in-depth insights into the experiences of families of children with SMA Type 1. It is anticipated that the study will interview 10-15 participants, the numbers will be determined by how many parents need to be interviewed to reach the point of saturation i.e. the point at which no new themes arise. The interviews will be aim to be inductive and discursive.
Prior to the interview parents will have received the information leaflet and consent form. A broad interview guide will be used to enable the interviewer to ensure all areas are covered within each interview, whilst providing flexibility to ensure all participant feedback is gathered. The interviews will be recorded digitally.
Participants The study will be advertised on the SMAUK website and their other social media platforms. Families will be invited to contact the CI if they are interested in taking part. Participants will be caregivers (parents, guardians) of children diagnosed with SMA Type 1.
The CI will then contact the potential participants and share the full information sheet and consent form. The participant will then complete and return the consent form and the PI will contact them to arrange a time for the interview. Interviews are expected to last approximately 60 minutes.
Data Collection The CI will carry out semi-structured interviews conducted via video conferencing, focusing on feeding and communication experiences. Interviews will be recorded, and questions will be based upon a broad interview guide to ensure all key areas are covered whilst being flexible to enable participants to share their experiences.
Data Analysis Recordings from interviews will be transcribed using Thematic Analysis (Braun and Clarke 2006)Thematic analysis software will be used to support the identification of recurring patterns and themes. Coding consistency will be checked by another researcher who will recode an anonymised random sample of the transcriptions.
Ethical Considerations: Informed consent will be obtained from all participants. The study will adhere to ethical guidelines to ensure confidentiality, voluntary participation, and sensitivity to emotional distress.
- Conditions
- Spinal Muscular Atrophy 1
- Keywords
- Spinal Muscular Atrophy 1, Bulbar function, eating and drinking, dysphagia, Communication, speech, language
- Medical subject headings
- Spinal Muscular Atrophies of Childhood, Deglutition Disorders, Communication, Speech, Language
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: From interview to completion of thematic analysis 2 weeks later
Secondary outcomes (1)
Broader issues
Social, emotional, and practical challenges related to feeding and communication.
Caregiver perceptions of bulbar function following disease-modifying therapies (DMTs).
Identification of perceived barriers and support systems impacting feeding and communication, assessed during the same single interview session and analysed thematically.
Measured: From interview to 2 weeks after when thematic analysis is completed
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 May 2026
- Study start19 Jun 2026 (estimated)
- Primary completion1 Nov 2026 (estimated)
- Study completion1 Nov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular Atrophy 1Studies of the same condition, open and under way.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 15 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Guy's and St Thomas' NHS Foundation Trust
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07596277
- Sponsor's protocol ID
- 358595
- Status last verified
- May 2026
- First submitted
- 13 May 2026
- Last updated
- 2 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided