Natural History Study for Patients With Nemaline Myopathy in Spain
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Observe changes in muscle echogenicity by muscle ultrasound.
研究概览
简要总结
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.
详细描述
The aims of the study are:
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Identify the specific genes and mutations responsible for NM in Spain.
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Define the in-depth phenotyping of NM and the phenotype-genotype relationship.
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Characterize the natural history of NM through the systematic collection of clinical (retrospective and prospective data), functional, and respiratory data in diagnosed patients in order to:
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Describe the progression of the disease without disease-modifying therapies.
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Identify reliable biomarkers and outcome measures for future clinical trials.
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Align the national protocol with international efforts to generate comparable data.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy.
- •Signed informed consent by the patient or Legal Authority Responsible, and/or assent by the subject (in pediatric population).
排除标准
- 未提供
结局指标
主要结局
Observe changes in muscle echogenicity by muscle ultrasound.
时间窗: Change from baseline through study completion, an average of 5 years
A standardized muscle ultrasound protocol of assessment is performed (whole body). Muscle images are scored using the Heckmatt scale (score 1-4): * Heckmatt grade 1 represents a normal muscle image. * Heckmatt grade 2 shows an increased echogenicity without attenuation of the deeper image regions. * Heckmatt grade 3 indicates a larger increase in echogenicity with some visible loss of normal muscle architecture. * Heckmatt grade 4 shows a strongly increased echogenicity with complete loss of recognizable muscle architecture.
Observe natural history changes in motor function using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
时间窗: Change from baseline through study completion, an average of 5 years
The CHOP-INTEND assesses a child's ability to move their body in a lying down position, supported sitting, and assisted rolling through 16 items. Scores range from 0 to 64, with higher scores indicating better motor function. Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability.
Observe natural history changes in motor function using the Hammersmith Infant Neurological Examination Section 2 (HINE-2)
时间窗: Change from baseline through study completion, an average of 5 years
This is a 37-item measure of infant developmental motor milestones that will be performed in participants aged 0-24months. Scores are interpreted in relation to optimality scores and cut-off scores for the participant's age. Higher scores represented higher function.
Observe natural history changes in Peabody Developmental Motor Scales (PDMS-3) Scale Score
时间窗: Change from baseline through study completion, an average of 5 years
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. PDMS-3 measures various motor abilities in young children. Four types of normative scores are yielded: age equivalents, percentile ranks, subtest scaled scores, and composite index scores. Higher scores indicate higher level of function.
Observe natural history changes in motor function using the Motor Function Measure (MFM32) Scale Score
时间窗: Change from baseline through study completion, an average of 5 years
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. This motor function assessment consists of 32 items organized in three dimensions: standing position and transfers, axial and limb proximal motor function, and limb distal motor function. Total scores are given between 0-100, with 0 indicating severe functional impairment and 100 indicating no functional impairment.
Observe natural history changes in motor function using the North Star Ambulatory Assessment (NSAA) score
时间窗: Change from baseline through study completion, an average of 5 years
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. Scores in the NSAA scale range from 0 to 34, with higher scores indicating better motor function.
Observe natural history changes in the Performance of Upper Limb (PUL) score
时间窗: Change from baseline through study completion, an average of 5 years
Change in upper limb function assessed using the Performance of Upper Limb (PUL) scale. Higher scores indicate better function.
次要结局
- Observe the natural clinical progression in respiratory function.(Change from baseline through study completion, an average of 5 years)
- Observe changes in Nutritional Status(Change from baseline through study completion, an average of 5 years)
- Observe changes in Quality of Life(Change from baseline through study completion, an average of 5 years)