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

Recruiting now

Conditions studied: SMA1

In brief

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. With the increasing number of long-term SMA 1 survivors worldwide thanks to the availability of new pharmacological treatments, it has become obvious that treated children show new phenotypes, presenting changes not only in motor and respiratory function, but also in other domains, including bulbar function, speech and communication development. We aim to investigate the evolution of bulbar function and speech/communication development in children with SMA type 1 treated with approved disease-modifying therapies through validate scales and questionnaires for the paediatric population. Additional neurophysiological and neuroimaging studies will be offered on an optional basis to further investigate the underlying brain electrical activity, and brain structural and functional organization. The information gathered would promote the definition of additional outcome measures capturing improvement at these levels. A better understanding of the development of these areas would help to plan SMA 1- tailored supportive programs provided by speech and language therapists, thus enhancing the current recommendations for management in SMA.

Key facts

Study ID

NCT05954455

Run by

Institute of Child Health

People needed

30

Starts

2024-03-21

Expected to finish

2026-12-01

Last updated by the study team

2024-08-16

Who can join

Age: any, up to 18. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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 it is running

• Great Ormond Street Hospital — London, United Kingdom (enrolling)

Full record on ClinicalTrials.gov

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