Exploring Bulbar Function, Speech And Communication Development in SMA Type 1 (ExSpAnD SMA)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- Bulbar function - Changes from baseline
研究概览
简要总结
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.
详细描述
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).
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Bulbar function - Changes from baseline
时间窗: Baseline, Visit Month 12, Month 24, and Months 36
Paediatric-Functional Oral Intake Scale (p-FOIS/CEDAS) Min score( Worse) - Max score 6 (Better performance)
Speech and Communication - Changes from baseline
时间窗: Baseline, Visit Month 6, Month 12, Month 18, Month 24, Month 30 and Months 36
Peabody Picture Vocabulary Test (PPVT)
Bulbar function
时间窗: Visit Month 30
Paediatric-Functional Oral Intake Scale (p-FOIS/CEDAS) Min score 1( Worse) - Max score 6 (Better performance)
Speech and Communication - Changes from Baseline
时间窗: Baseline, Month 12, Month 24, and Months 36
Social Communication Questionnaire (SCQ) Minimum value is 0, maximum value is 39, higher score means worse outcome (The threshold varies depending on countries and researchers).
Speech and Communication
时间窗: Visit Month 30
Social Communication Questionnaire (SCQ) Minimum value is 0, maximum value is 39, higher score means worse outcome (The threshold varies depending on countries and researchers).
次要结局
- Cognitive function(Visit Month 30)
- Cognitive function - Changes from baseline(Baseline, Month 12, Month 24, and Months 36)