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Exploring Bulbar Function, Speech And Communication Development in SMA Type 1

Recruitingn/aAges 0 Years - 18 YearsAllInstitute of Child Health
NCT05954455 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

5q-spinal muscular atrophy (5q-SMA) is a rare, autosomal recessive neuromuscular disease characterized by degeneration of motor neurons in the spinal cord and lower brainstem with progressive muscle atrophy, weakness, and paralysis. The incidence is 1 in 7-10,000 live births. 5q-SMA presents a wide range of phenotypes that are classified into five clinical groups depending on age of onset and maximum motor milestone achieved. SMA type 1 presents shortly after birth and before six months of age with inability to achieve independent sitting and limited life expectancy due to respiratory complications (high mortality rate by 2 years of age). In addition to the severe gross-motor and respiratory impairment, bulbar weakness and dysfunction represent an obstacle to the development of verbal skills in these patients. To date, very little is known about these functions in children with SMA 1. Wi

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📋 Eligibility rules (as published)
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.
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What it tests

  • Not listed
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Where

1 site
Great Ormond Street Hospital
London, United Kingdom
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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