Cognitive and Neurological Pathologies in Pompe Disease

Pompe Disease Clinical Trial

— CNS  

Official title:

Cognitive and Neurological Pathologies in Pompe Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04639336
• Other study ID #: Pro00072329
• Status: Recruiting
• Start date: August 3, 2016
• Est. completion date: August 2024

Study information

• Verified date: November 2023
• Source: Duke University
• Contact: Gretchen Nichting
• Phone: +1 919 660 0757
• Email: gretchen.nichting[@]duke.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 45
• Est. completion date: August 2024
• Est. primary completion date: August 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 0 Years to 18 Years

Eligibility

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

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Pompe Disease

Locations

Country	Name	City	State
United States	Duke University Medical Center	Durham	North Carolina

Sponsors (2)

Lead Sponsor	Collaborator
Duke University	Sanofi

Country where clinical trial is conducted

United States, 

References & Publications (3)

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: 10.33 — View 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 — View 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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.		up to 6 years
Secondary	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.		up to 6 years
Secondary	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.		up to 6 years
Secondary	To characterize the motor speech function in children with IPD and LOPD as reported auditory-perceptual and instrumental methods.		up to 6 years
Secondary	To investigate the relationship between neuroimaging findings and developmental outcomes, over time, for children with Pompe disease, as reported by .		up to 6 years
Secondary	To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using screening questionnaires.		up to 6 years
Secondary	To investigate the extent of muscle pathology, especially myopathy and neuropathy in the distal lower extremities, using quantitative muscle ultrasound.		up to 6 years