NCT03564561招募中不适用
Clinical and Molecular Aspects of Adult Onset Pompe Disease: a Natural History Study
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- The Six-Minute Walk Test
研究概览
简要总结
The project is a prospective study in which patients affected by adult-onset Pompe disease with c.-32-13T>G mutation in the GAA gene will be followed-up during two years to describe the natural history using clinical, imaging, histological and molecular parameters.
Secondary objectives are:
- To identify biomarkers for assessing efficacy of future therapies based on correcting aberrant alternative splicing in Pompe patients with c.-32-13T>G mutations.
- To determine effectiveness of antisense oligonucleotide chemistries to restore full length GAA transcripts, GAA protein and GAA enzyme activity in fibroblasts and myoblasts obtained from skin and muscle biopsies as well as leucocytes of Pompe patients with c.-32-13T>G mutations.
详细描述
Study aim:
The principal objective of the study is to find biomarkers and clinical criteria that correlate with the disease progression.
Methods:
Clinical information will be obtained according to a pre-defined protocol including six visits: screening visit, visit at baseline, visits at 6 months, 12 months, 18 months and 24 months.
At visits following tests will be performed:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Pompe disease Patient with c.-32-13T>G mutation in at least one allele of GAA gene.
- •Ambulating patient : six-minute walk test distance > 50 m.
- •Patient aged between 18 and 80 years.
- •Informed consent signed par patient.
- •Patient covered by a health insurance.
排除标准
- •Invasive mechanical ventilation
- •Pregnant woman
- •Presence of comorbidity, in particular preexisting diseases like chronic infectious diseases (VIH infection, hepatitis or others), asthma, malignant tumour, hematologic diseases
- •Patient who participate in another clinical trial
- •Life expectancy < 12 months
- •Unable to understand instructions and restraints of the study
结局指标
主要结局
The Six-Minute Walk Test
时间窗: at 24 months
次要结局
- Moter assessment: timed test for standing up from sitting position(At baseline, at 6, 12, 18 and 24 months)
- Moter assessment: timed test for standing up from supine position(At baseline, at 6, 12, 18 and 24 months)
- Moter assessment: 6-minute walk test(At baseline, at 6, 12, 18 and 24 months)
- Histological features(At baseline)
- Moter assessment: : the MFM moter function measure scale(At baseline, at 6, 12, 18 and 24 months)
- Body composition(At baseline, 12th and 24th months)
- Evaluation of skeletal muscle by MRI imaging(At baseline, 12th and 24th months)
- Respiratory parameters: dyspnea using Borg scale(At baseline, at 6, 12, 18 and 24 months)
- Respiratory assessment: alveolar hypoventilation identification(At baseline, at 6, 12, 18 and 24 months)
- Molecular and biochemical parameters: muscular biopsy(At baseline)
- Moter assessment: quadriceps strength(At baseline, at 6, 12, 18 and 24 months)
- Moter assessment: timed 10 meters run/walk test(At baseline, at 6, 12, 18 and 24 months)
- Moter assessment: time taken to climb 4 stairs(At baseline, at 6, 12, 18 and 24 months)
- Moter assessment: three-dimensional analysis of walk(At baseline, at 6, 12, 18 and 24 months)
- Respiratory parameters: daily duration of non-ventilation for ventilated patients(At baseline, at 6, 12, 18 and 24 months)
- Biomarkers(At baseline)
- Heart function assessment(At baseline, at 6, 12, 18 and 24 months)
- Quality of life assessment(At baseline)
- Genotype(At baseline)
- Molecular and biochemical parameters: cutaneous biopsy(At baseline)
研究者
研究点 (1)
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