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

More detail

Study design: observational longitudinal study. In the first instance, this is intended as a single-centre pilot study with a total duration of 3 years. A larger longitudinal study in a wider national and international cohort will be planned according to preliminary results and insights from this pivotal study. The first appointment will be the screening visit. Initially the trial will be discussed, and informed consent will be obtained for participation in the trial. Information will be collected from the patient and their family including demographics, medical history and detail on medications used by the patient. The investigator will discuss and obtain information on feeding and nutritional support required by the patient, speech and language interventions in place including if they are an augmentative alternative communication user and/or eye tracking device user. After this the investigator will be able to confirm eligibility for the trial. The second visit is the baseline, during this a set of assessments will take place to establish the patients' baseline function. This will include a bulbar function assessment (speech and swallowing), a speech and communication assessment and a cognitive assessment (Thinking abilities; memory, language, reasoning and perception). The investigator will collect further data on respiratory function (breathing) and gross motor function (Muscle strength and abilities). The investigator will assess any adverse events which have occurred since the last visit including symptoms, signs, illness etc. There are further tests which could take place at this visit which are an optional part of the study these include event-related potentials, Brain scan (MRI) and additional communication tests. Patients will then be seen at 6 monthly intervals, at 6m, 12m, 18m, 24m, 30m and 36 months. At each of these appointments and changes to medications will be documented. The investigator will discuss and obtain information on feeding and nutritional support required by the patient, speech and language interventions in place including if they are an augmentative alternative communication user and/or eye tracking device user. Assessments which took place at baseline will be repeated including a bulbar function assessment (speech and swallowing), a speech and communication assessment and we will collect data on respiratory function (breathing) and gross motor function (muscle strength and abilities). Cognitive testing will occur at visits at 12, 24 and 36 months. At all visits the investigator will assess any adverse events which have occurred since the last visit including symptoms, signs, illness etc. If patients have decided to take part in additional cognitive testing, then this will occur at each 6 monthly visit. The month 36 visit will be the end of study visit so as well as the above will include repeat testing of the optional event-related potentials and brain scan (MRI).