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Trial record 39 of 103 for:    Pompe Disease

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

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ClinicalTrials.gov Identifier: NCT03694561
Recruitment Status : Recruiting
First Posted : October 3, 2018
Last Update Posted : April 11, 2019
Sponsor:
Collaborator:
Amicus Therapeutics
Information provided by (Responsible Party):
Duke University

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 and infants with Pompe disease without cardiomyopathy identified in newborn screening(NBS). There will be a baseline, 6 month and 12 month visit.

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

Condition or disease Intervention/treatment
Pompe Disease Pompe Disease (Late-onset) GAA Deficiency Other: Observational

Detailed Description:

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 follow up visits will be at 6 and 12 months. 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

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Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Developing a Management Approach for Patients With "Late-Onset" Pompe Disease GAA Variant Identified by Newborn Screening
Actual Study Start Date : March 25, 2019
Estimated Primary Completion Date : December 2023
Estimated Study Completion Date : December 2023


Group/Cohort Intervention/treatment
Late-Onset Pompe disease
Individuals with a confirmed diagnosis of Late-Onset Pompe disease via NBS
Other: Observational
This study is a systematic investigation of the natural history of late-onset Pompe disease in infancy




Primary Outcome Measures :
  1. Medical records will be tracked for 1.5 years to document subtle musculoskeletal signs of Pompe disease. [ Time Frame: 1.5 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.

  2. Medical records will be tracked for 1.5 years to document Pompe-specific clinical symptoms. [ Time Frame: 1.5 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.

  3. Medical records will be tracked for 1.5 years to document elevation in Pompe-specific biomarkers from blood and urine samples. [ Time Frame: 1.5 years ]
    This outcome measure will be tested by comparing lab results to lab-specific ranges.


Secondary Outcome Measures :
  1. Medical records will be tracked for 1.5 years to document sleep quality. [ Time Frame: 1.5 years ]
    This outcome measure will be tested qualitatively by questionnaire.

  2. Medical records will be tracked for 1.5 years to document auditory capacity. [ Time Frame: 1.5 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.

  3. Medical records will be tracked for 1.5 years to document cardiac involvement. [ Time Frame: 1.5 years ]
    This outcome measure will be analyzed by echocardiogram and electrocardiogram results.

  4. Medical records will be tracked for 1.5 years to document muscle architecture of the calves, para-spinal muscles and tongue [ Time Frame: 1.5 years ]
    This outcome measure will be tested qualitatively by simple ultrasound examination.

  5. Medical records will be tracked for 1.5 years to document speech and swallow progression [ Time Frame: 1.5 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.



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Ages Eligible for Study:   3 Months to 18 Months   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Participants who have been diagnosed with Late-Onset Pompe Disease via Newborn Screening (NBS)
Criteria

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
  • Subject must be between 3 and 18 months

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03694561


Contacts
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Contact: Stephanie Austin, MS,MA 9196681347 stephanie.austin@duke.edu
Contact: Lauren Nolley 9196686156 lauren.nolley@duke.edu

Locations
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United States, North Carolina
Duke University Recruiting
Durham, North Carolina, United States, 27705
Contact: Lauren D Nolley, BS    704-787-2236    lauren.nolley@gmail.com   
Principal Investigator: Priya Kishnani, MD         
Sub-Investigator: Stephanie Dearmey, PA-C         
Sponsors and Collaborators
Duke University
Amicus Therapeutics
Investigators
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Principal Investigator: Priya Kishnani, MD Duke University

Publications:

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Responsible Party: Duke University
ClinicalTrials.gov Identifier: NCT03694561     History of Changes
Other Study ID Numbers: Pro00100223
First Posted: October 3, 2018    Key Record Dates
Last Update Posted: April 11, 2019
Last Verified: October 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Duke University:
Pompe disease
Glycogen Storage Disease Type II
Acid Maltase Deficiency
Acid Alpha-Glucosidase Deficiency
Alglucosidase alfa
Newborn Screening

Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors