CNS: Cognitive and Neurological Pathologies in Pompe Disease

Sponsor

Duke University (Other)

Overall Status

Recruiting

CT.gov ID

NCT04639336

Collaborator

(none)

Enrollment

Location

95.9

Anticipated Duration (Months)

0.5

Patients Per Site Per Month

Study Details

Study Description

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; quantitative muscle ultrasound, small fiber neuropathy screening list (SFNSL); 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	Intervention/Treatment	Phase
Pompe Disease

Study Design

Study Type:

Observational

Anticipated Enrollment :

45 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Cognitive and Neurological Pathologies in Pompe Disease

Actual Study Start Date :

Aug 3, 2016

Anticipated Primary Completion Date :

Aug 1, 2024

Anticipated Study Completion Date :

Aug 1, 2024

Arms and Interventions

Arm	Intervention/Treatment
Patients with Pompe disease

Outcome Measures

Primary Outcome 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. [3 years]

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

0 Years to 18 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

Subject has a confirmed and documented diagnosis of infantile Pompe Disease (IPD) or Late onset Pompe Disease (LOPD)

Exclusion Criteria:

Refusal to give informed consent

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Duke University Medical Center	Durham	North Carolina	United States	27710

Sponsors and Collaborators

Duke University

Investigators

Principal Investigator: Priya Kishnani, MD, Duke University

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Duke University

ClinicalTrials.gov Identifier:

NCT04639336

Other Study ID Numbers:

Pro00072329

First Posted:

Nov 20, 2020

Last Update Posted:

Jul 5, 2022

Last Verified:

Dec 1, 2021

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Glycogen Storage Disease Type II

Study Results

No Results Posted as of Jul 5, 2022