Cognitive and Neurological Pathologies in Pompe Disease

Overview

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.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: August 2022

Arms, Groups and Cohorts

  • Patients with Pompe disease

Clinical Trial Outcome Measures

Primary Measures

  • 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 Measures

  • 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
  • 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
  • To characterize the motor speech function in children with IPD and LOPD as reported auditory-perceptual and instrumental methods.
    • Time Frame: 3 years
  • To investigate the relationship between neuroimaging findings and developmental outcomes, over time, for children with Pompe disease, as reported by .
    • Time Frame: 3 years
  • To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using screening questionnaires.
    • Time Frame: 3 years
  • To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using quantitative muscle ultrasound.
    • Time Frame: 3 years
  • To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using electrodiagnostic testing.
    • Time Frame: 3 years

Participating in This Clinical Trial

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
  • Gender Eligibility: All

    Minimum Age: 5 Years

    Maximum Age: 18 Years

    Are Healthy Volunteers Accepted: No

    Investigator Details

    • Lead Sponsor
      • Duke University
    • Provider of Information About this Clinical Study
      • Sponsor
    • Overall Official(s)
      • Priya Kishnani, MD, Principal Investigator, Duke University
    • Overall Contact(s)
      • Gretchen Nichting, +1 919 660 0757, gretchen.nichting@duke.edu

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