Exploring speech and communication in children with SMA Type 1
Exploring Bulbar Function, Speech And Communication Development in SMA Type 1 (ExSpAnD SMA)
This study is looking at how speech and communication develop in children with spinal muscular atrophy type 1 to better understand their needs over three years.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 0 Years to 18 Years |
| Sex | All |
| Sponsor | Institute of Child Health Academic / other |
| Locations | 1 site (London) |
| Trial ID | NCT05954455 on ClinicalTrials.gov |
What this trial studies
This observational longitudinal study aims to investigate bulbar function, speech, and communication development in children diagnosed with spinal muscular atrophy type 1 (SMA1). The study will involve a single center and will last for three years, beginning with a screening visit to obtain informed consent and collect demographic and medical history data. Subsequent visits will include assessments of bulbar function, speech and communication, cognitive abilities, respiratory function, and gross motor function. The findings from this pilot study may inform larger future studies on SMA1.
Who should consider this trial
Good fit: Ideal candidates are children aged 0-18 years with a genetic diagnosis of 5q SMA and onset of symptoms before six months of age.
Not a fit: Patients with significant medical conditions that may interfere with study participation or those whose guardians are unwilling to comply with study procedures may not benefit.
Why it matters
Potential benefit: If successful, this study could enhance understanding of communication challenges in SMA1, leading to improved interventions for affected children.
How similar studies have performed: While there is limited research specifically on speech and communication in SMA1, similar studies on SMA have shown promising results in understanding the condition and improving patient care.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * genetic documentation of 5q SMA; * onset of clinical signs and symptoms at ≤ 6 months (180 days) of age; * 0 - 18 years of age * treatment with any of the approved disease-modifying therapies; * parent(s)/legal guardian(s) willing and able to complete the informed consent process and comply with study procedures and visit schedule. Exclusion criteria: * any clinically significant medical finding that - in the judgment of the Investigator - will make the patient unsuitable for participation in, and/or unable to complete the study procedures; * parent(s)/legal guardian(s) unable or unwilling to comply with study procedures and/or refuses to sign consent form. Exclusion Criteria: * any clinically significant medical finding that - in the judgment of the Investigator - will make the patient unsuitable for participation in, and/or unable to complete the study procedures; * parent(s)/legal guardian(s) unable or unwilling to comply with study procedures and/or refuses to sign consent form.
Where this trial is running
London
- Great Ormond Street Hospital — London, United Kingdom (Recruiting)
Study contacts
- Study coordinator: Giovanni Baranello, MD
- Email: g.baranello@ucl.ac.uk
- Phone: 02079052872
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.