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Cognitive and Neurological Pathologies in Pompe Disease (CNS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04639336
Recruitment Status : Recruiting
First Posted : November 20, 2020
Last Update Posted : January 11, 2022
Sponsor:
Information provided by (Responsible Party):
Duke University

Study Description
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Brief Summary:
In this study, the investigators will collect clinical information as well as complete the following procedures to assess central nervous system (CNS) and peripheral nervous system (PNS) involvement: neuroimaging with MRI, MRS and DTI; needle electromyography with electromyography, quantitative muscle ultrasound, nerve conduction study, small fiber neuropathy screening list (SFNSL) and skin biopsy depending on SFNSL score; cognition and developmental assessments including an audiological exam; physical therapy and speech evaluation. These assessments will be collected once a year for up to six years.

Condition or disease
Pompe Disease

Study Design
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Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Cognitive and Neurological Pathologies in Pompe Disease
Actual Study Start Date : August 3, 2016
Estimated Primary Completion Date : August 2022
Estimated Study Completion Date : August 2022

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
Patients with Pompe disease


Outcome Measures
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Primary Outcome Measures :
  1. To determine the involvement of central nervous system (CNS) pathology in long-term survivors of IPD and early diagnosed LOPD patients being treated with enzyme replacement therapy (ERT) as measure by neuroimaging. [ Time Frame: 3 years ]

Secondary Outcome Measures :
  1. To further investigate developmental outcomes, such as cognition, language, academic skills and fine motor skills, of children with Pompe disease as reported by patient performance report measures. [ Time Frame: 3 years ]
  2. To further investigate developmental outcomes, such as cognition, language, academic skills and fine motor skills, of children with Pompe disease as reported by parent report measures. [ Time Frame: 3 years ]
  3. To characterize the motor speech function in children with IPD and LOPD as reported auditory-perceptual and instrumental methods. [ Time Frame: 3 years ]
  4. To investigate the relationship between neuroimaging findings and developmental outcomes, over time, for children with Pompe disease, as reported by . [ Time Frame: 3 years ]
  5. To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using screening questionnaires. [ Time Frame: 3 years ]
  6. To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using quantitative muscle ultrasound. [ Time Frame: 3 years ]
  7. To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using electrodiagnostic testing. [ Time Frame: 3 years ]

Eligibility Criteria
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Ages Eligible for Study:   5 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Children with infantile, atypical, or early presentation late-onset Pompe disease.
Criteria

Inclusion Criteria:

  • Subject has a confirmed and documented diagnosis of infantile, atypical, or (early presentation) LOPD
  • Subject is 5-18 years of age at the time of enrollment

Exclusion Criteria:

  • Refusal to give informed consent
Contacts and Locations
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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): NCT04639336


Contacts
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Contact: Gretchen Nichting +1 919 660 0757 gretchen.nichting@duke.edu

Locations
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United States, North Carolina
Duke University Medical Center Recruiting
Durham, North Carolina, United States, 27710
Contact: Gretchen Nichting    919-660-0757    gretchen.nichting@duke.edu   
Contact: Ela Stefanescu    9196814026    ela.stefanescu@duke.edu   
Principal Investigator: Priya Kishnani, MD         
Sponsors and Collaborators
Duke University
Investigators
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Principal Investigator: Priya Kishnani, MD Duke University
More Information
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Responsible Party: Duke University
ClinicalTrials.gov Identifier: NCT04639336    
Other Study ID Numbers: Pro00072329
First Posted: November 20, 2020    Key Record Dates
Last Update Posted: January 11, 2022
Last Verified: December 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
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
 Metabolism, Inborn Errors
Genetic Diseases, Inborn
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases