Ignite Creation Date:
2024-05-06 @ 12:10 PM
Last Modification Date:
2024-10-26 @ 12:55 PM
Study NCT ID:
NCT03694561
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2023-10-26
First Post:
2018-10-01
Brief Title:
Developing a Management Approach for Patients With Late-Onset Pompe Disease
Sponsor:
Duke University
Organization:
Duke University
Study Overview
Official Title:
Developing a Management Approach for Patients With Late-Onset Pompe Disease GAA Variant Identified by Newborn Screening
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2024-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
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 infants and children with Pompe disease without cardiomyopathy identified in newborn screeningNBS
There will be baseline months 6 and months 12 visits for infants and newborns infants study For children of ages 24 months to 54 months there will be baseline year 1 and year 2 visits children study
The study has four goals
1 To study and record disease specific clinical symptoms in newborns infants and children with Pompe disease without cardiomyopathy disease of the heart muscle in the first year of life 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 including ability to collect research information via virtual health platforms
3 To determine criteria to start preventative therapies including enzyme replacement therapy ERT in patients with clinical features of Pompe disease identified via NBS
4 To document parental coping and anxietyemotional distress overtime using quality of life questionnaires after a child is diagnosed with late onset Pompe disease via NBS
There will be baseline months 6 and months 12 visits for infants and newborns infants study For children of ages 24 months to 54 months there will be baseline year 1 and year 2 visits children study
The study has four goals
1 To study and record disease specific clinical symptoms in newborns infants and children with Pompe disease without cardiomyopathy disease of the heart muscle in the first year of life 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 including ability to collect research information via virtual health platforms
3 To determine criteria to start preventative therapies including enzyme replacement therapy ERT in patients with clinical features of Pompe disease identified via NBS
4 To document parental coping and anxietyemotional distress overtime using quality of life questionnaires after a child is diagnosed with late onset Pompe disease via NBS
Detailed Description:
Late-Onset Pompe DiseaseLOPD 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 preventreduce 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 LOPDThis 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 20 infants and children at Duke that has screened for LOPD This study involves minimal risk to the patient and offers a potential benefit of improved disease management For infants the initial visit will be as soon as possible after a confirmed LOPD diagnosis and follow up visits will be at 6 months and 12 months The investigators will continue to gather clinical information on patients and monitor clinical status beyond assessment at three time points For children of ages 24 months to 54 months there will be baseline year 1 and year 2 visits
The study has four goals
1 To study and record disease specific clinical symptoms in newborns infants and children with Pompe disease without cardiomyopathy disease of the heart muscle in the first year of life 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 including ability to collect research information via virtual health platforms
3 To determine criteria to start preventative therapies including enzyme replacement therapy ERT in patients with clinical features of Pompe disease identified via NBS
4 To document parental coping and anxietyemotional distress overtime using quality of life questionnaires after a child is diagnosed with late onset Pompe disease via NBS
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 LOPDThis 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 20 infants and children at Duke that has screened for LOPD This study involves minimal risk to the patient and offers a potential benefit of improved disease management For infants the initial visit will be as soon as possible after a confirmed LOPD diagnosis and follow up visits will be at 6 months and 12 months The investigators will continue to gather clinical information on patients and monitor clinical status beyond assessment at three time points For children of ages 24 months to 54 months there will be baseline year 1 and year 2 visits
The study has four goals
1 To study and record disease specific clinical symptoms in newborns infants and children with Pompe disease without cardiomyopathy disease of the heart muscle in the first year of life 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 including ability to collect research information via virtual health platforms
3 To determine criteria to start preventative therapies including enzyme replacement therapy ERT in patients with clinical features of Pompe disease identified via NBS
4 To document parental coping and anxietyemotional distress overtime using quality of life questionnaires after a child is diagnosed with late onset Pompe disease via NBS
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None