Developing a Management Approach for Patients With the "Late-Onset" Pompe Disease

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追踪信息

首次提交日期 ^ICMJE

October 1, 2018

首次发布日期e ^ICMJE

October 3, 2018

最后更新发布日期

October 3, 2018

预计研究开始日期 ^ICMJE

October 2018

预计主要完成日期

October 2023 (主要结果测量的最终数据收集日期)

目前主要观察指标 ^ICMJE

Medical records will be tracked for 5 years to document subtle musculoskeletal signs of Pompe disease.[ Time Frame: 5 years ]

This outcome measure will be tested individually by a formal physical therapy assessment, Alberta Infant Motor Scale (AIMS), Gross Motor Functional Measure (GMFM), Hammersmith Functional Motor Scale Expanded(HFMSE),Modified Hammersmith Functional Motor Scale Extend(MHMFS-EXTEND), and Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders(CHOP INTEND) to give a combined assessment score.

Medical records will be tracked for 5 years to document Pompe-specific clinical symptoms.[ Time Frame: 5 years ]

This outcome measure will be tested individually by physical examination, nutritional evaluation and functional assessment to give a combined analysis of Pompe-specific symptoms.

Medical records will be tracked for 5 years to document elevation in Pompe-specific biomarkers from blood and urine samples.[ Time Frame: 5 years ]

This outcome measure will be tested by comparing lab results to lab-specific ranges.

原始主要观察测量 ^ICMJE

与当前相同

目前的二级观察 ^ICMJE

Medical records will be tracked for 5 years to document sleep quality.[ Time Frame: 5 years ]
This outcome measure will be tested qualitatively by questionnaire.
Medical records will be tracked for 5 years to document auditory capacity.[ Time Frame: 5 years ]
This outcome measure will be tested individually by visual reinforcement audiology (VRA) and distortion product optoacoustic emissions (DPOAE) to give a combined assessment score.
Medical records will be tracked for 5 years to document cardiac involvement.[ Time Frame: 5 years ]
This outcome measure will be analyzed by echocardiogram and electrocardiogram results.
Medical records will be tracked for 5 years to document muscle architecture of the calves, para-spinal muscles and tongue[ Time Frame: 5 years ]
This outcome measure will be tested qualitatively by simple ultrasound examination.
Medical records will be tracked for 5 years to document speech and swallow progression[ Time Frame: 5 years ]
This outcome measure will be tested individually by using videofluoroscopic study, Preschool Language Scale-Fourth Edition(PLS4), Receptive-Expressive Emergent Language Test Third Edition(REEL3), Pediatric Eating Assessment Tool (PEDI EAT-10), Functional Oral Intake Scale(FOIS) and serial photographs to give a combined assessment score.

描述性信息

简略标题 ^ICMJE

Developing a Management Approach for Patients With the "Late-Onset" Pompe Disease

正式标题 ^ICMJE

Developing a Management Approach for Patients With the "Late-Onset" Pompe Disease GAA Variant Identified by Newborn Screening

简要概况

This is an observational study with no study related treatment of interventions. The purpose of the study is to investigate and document disease specific clinical symptoms in newborns and infants with Pompe disease without cardiomyopathy identified in newborn screening(NBS). The study has three goals: 1. To study and record disease specific clinical symptoms in newborns and infants with Pompe disease without cardiomyopathy (disease of the heart muscle) identified through newborn screening (NBS) 2. To devise an approach to characterize early musculoskeletal (muscles and joints) involvement in subjects with the "late-onset" GAA variant identified by NBS 3. To determine criteria to start preventative therapies including enzyme replacement therapy (ERT) in patients with clinical features of Pompe disease identified via NBS

详细说明

Late-Onset Pompe Disease(LOPD) is an inherited disorder caused by lack of or defect in the enzyme acid alpha-glucosidase (GAA). GAA enzyme deficiency causes glycogen to build up and damage cells throughout the body, especially in the heart and muscles. In LOPD, subtle and overt disease-specific features may go unrecognized in childhood without vigilant clinical examination and assessments with appropriate functional tests. In our clinical experience, children with the "late-onset" GAA variant may present much earlier in life and adult patients with LOPD consistently report a much earlier symptom onset and a significant diagnostic delay. These patients have shown improvement after initiation of ERT but have motor impairments adversely affecting their quality of life and growth from early childhood. Therefore, earlier diagnosis and initiation of ERT is crucial in these patients. Instituting ERT at an ideal time may prevent/reduce these irreversible musculoskeletal impairments and lead to a better quality of life and less disease burden as these children age. Our team of Pompe disease experts will perform detailed clinical evaluations, physical therapy evaluations, cardiac assessments, speech and swallow evaluations, biochemical tests, sleep questionnaire, and hearing assessments on these patients. These assessments will allow use to capture and describe the earlier clinical phenotype in these patients and provide insights into the early signs and symptoms of LOPD.This study will provide and evidence-based approach to clinical management of newborns with LOPD to primary care physicians and geneticists, leading to improves patient outcomes. The investigators will enroll 40 infants at Duke that has screened for LOPD. This study involves minimal risk to the patient and offers a potential benefit of improved disease management. The initial visit will be as soon as possible after a confirmed LOPD diagnosis and at 6-9 month intervals. The investigators will continue to gather clinical information on patients and monitor clinical status beyond assessment at three time points. The study has three goals: 1. To study and record disease specific clinical symptoms in newborns and infants with Pompe disease without cardiomyopathy (disease of the heart muscle) identified through newborn screening (NBS) 2. To devise an approach to characterize early musculoskeletal (muscles and joints) involvement in subjects with the "late-onset" GAA variant identified by NBS 3. To determine criteria to start preventative therapies including enzyme replacement therapy (ERT) in patients with clinical features of Pompe disease identified via NBS

研究类型 ^ICMJE

Observational

研究阶段

研究设计 ^ICMJE

分配:
干预模型:
干预模型描述:
盲法: Observational
盲法描述:
主要目的:

适用条件 ^ICMJE

干预项目 ^ICMJE

Other: Observational
This study is a systematic investigation of the natural history of late-onset Pompe disease in infancy

研究工具

: Late-Onset Pompe disease
Individuals with a confirmed diagnosis of Late-Onset Pompe disease via NBS

招募信息

招募状态 ^ICMJE

Not yet recruiting

预计入组 ^ICMJE

原始预计入组 ^ICMJE

与当前相同

预计研究完成日期

October 2023

预计主要完成日期

October 2023 (主要结果测量的最终数据收集日期)

合格标准 ^ICMJE

Inclusion Criteria: - Subject has been diagnosed via newborn screening - Subject has a confirmed and documented diagnosis of Pompe disease and absence of cardiac involvement - Subject has predicted "late-onset" GAA variants such as c.-32-13T>G, c.2188G>T, c.1935C>A, c.1726G>A, c.118C>T etc. in homozygosity or compound heterozygosity

性别

参与研究的性别:

All

年龄

最小年龄：N/A ，最大年龄：18 Years

接受健康的志愿者

没有

可入组国家 ^ICMJE

管理信息

数据检测委员会

研究涉及美国FDA监管的产品

研究美国FDA监管的药品: No
研究涉及美国FDA监管的设备产品: No

IPD 共享声明

计划分享 IPD:

责任方

，

研究赞助商 ^ICMJE

Duke University

合作者 ^ICMJE

研究员 ^ICMJE

Principal Investigator: Priya Kishnani, MD Duke University

PRS 账户

验证日期

October 2018

^ICMJE 国际医学期刊编辑委员会和世界卫生组织 ICTRP 要求的元素

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