Cognitive and Neurological Pathologies in Pompe Disease
ConditionPompe Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age0-18
SponsorDuke University
About this trial
The purpose of this study is to better understand the long-term health effects of Pompe disease and to determine if there are any abnormal changes in the brain and peripheral nerves. Additionally, the investigators will study the relationship between the abnormal changes in brain, nervous system findings, and developmental outcomes.
The investigators will collect clinical information from clinic visits as well as assessments such as neuroimaging (magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), and diffusion tensor imaging (DTI)), cognition, academic skills, speech and language function, physical therapy and quantitative muscle ultrasound. Subjects will be in this study for at least 3 years and up to 6 years.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Subject has a confirmed and documented diagnosis of infantile Pompe Disease (IPD) or Late onset Pompe Disease (LOPD)
Disqualifiers
Refusal to give informed consent
Trial population
Children with infantile Pompe disease. Children with late-onset Pompe disease
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
45 Participants
are grouped into 1 trial groupGroup A: Patients with Pompe disease
Trial outcomes
Primary outcomes
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
up to 6 yearsSecondary outcomes
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
up to 6 years2
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
up to 6 years3
To characterize the motor speech function in children with IPD and LOPD as reported auditory-perceptual and instrumental methods.
Time frame
up to 6 years4
To investigate the relationship between neuroimaging findings and developmental outcomes, over time, for children with Pompe disease, as reported by .
Time frame
up to 6 yearsSponsors and contacts
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Duke University
Lead sponsor
Sanofi
Collaborator
Source ClinicalTrials.gov