Clinical trial NCT04639336: Cognitive and Neurological Pathologies in Pompe Disease
Official title: Cognitive and Neurological Pathologies in Pompe Disease
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Pompe Disease
Lead sponsor: Duke University
Sponsor class: OTHER
Collaborators: name: Sanofi
First posted: 2020-11-20
Enrollment: 45
Sex: ALL
Minimum age (years): 0
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Children with infantile Pompe disease. Children with late-onset Pompe disease

Brief summary: 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: 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

Primary outcomes:
measure: 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.
timeFrame: up to 6 years
Secondary outcomes:
measure: 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.
timeFrame: up to 6 years
measure: 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.
timeFrame: up to 6 years
measure: To characterize the motor speech function in children with IPD and LOPD as reported auditory-perceptual and instrumental methods.
timeFrame: up to 6 years
measure: To investigate the relationship between neuroimaging findings and developmental outcomes, over time, for children with Pompe disease, as reported by .
timeFrame: up to 6 years
measure: To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using screening questionnaires.
timeFrame: up to 6 years
measure: To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using quantitative muscle ultrasound.
timeFrame: up to 6 years
Other outcomes:
Locations:
city: Durham
country: United States
facility: Duke University Medical Center
state: North Carolina
Study officials:
affiliation: Duke University
name: Priya Kishnani, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Crisp KD, Neel AT, Amarasekara S, Marcus J, Nichting G, Korlimarla A, Kishnani PS, Jones HN. Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods. J Clin Med. 2021 Aug 16;10(16):3617. doi: 10.3390/jcm10163617.
citation: Korlimarla A, Spiridigliozzi GA, Crisp K, Herbert M, Chen S, Malinzak M, Stefanescu M, Austin SL, Cope H, Zimmerman K, Jones H, Provenzale JM, Kishnani PS. Novel approaches to quantify CNS involvement in children with Pompe disease. Neurology. 2020 Aug 11;95(6):e718-e732. doi: 10.1212/WNL.0000000000009979. Epub 2020 Jun 9.
citation: Korlimarla A, Spiridigliozzi GA, Stefanescu M, Austin SL, Kishnani PS. Behavioral, social and school functioning in children with Pompe disease. Mol Genet Metab Rep. 2020 Aug 5;25:100635. doi: 10.1016/j.ymgmr.2020.100635. eCollection 2020 Dec.