Cognitive and Neurological Pathologies in Pompe Disease

Duke University45 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Pompe Disease

Eligibility

Sex: ALLMin age: 0 YearsMax age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

Duke University Medical Center

Durham, North Carolina, United States

Outcomes

Primary Outcomes

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 years

Secondary Outcomes

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 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: up to 6 years

To characterize the motor speech function in children with IPD and LOPD as reported auditory-perceptual and instrumental methods.

Time frame: up to 6 years

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 years

To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using screening questionnaires.

Time frame: up to 6 years

To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using quantitative muscle ultrasound.

Time frame: up to 6 years

Cognitive and Neurological Pathologies in Pompe Disease

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts