Cognitive and Neurological Pathologies in Pompe Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Pompe Disease. Basic parameters: 0 years — 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
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.
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. [Time frame: up to 6 years]
Secondary outcome measures (6)
- 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]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Duke University Medical Center — Durham
Publications
- 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. PMID 34441913
- 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. PMID 32518148
- 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. PMID 32793419
Identifiers
NCT: NCT04639336 · Pro00072329