Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT

Effect of Motor Development, Motor Function and Electrodiagnostic Characteristic of IOPD Under ERT

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02761421

Enrollment

Registered

2016-05-04

Start date

2016-01-31

Completion date

2016-12-31

Last updated

2016-05-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Glycogen Storage Disease Type II

Keywords

IOPD

Brief summary

To investigate the motor development, motor function and electrodiagnostics presentation in IOPD under ERT.

Detailed description

Background Pompe disease is an autosomal recessive disease, enzyme replacement therapy (ERT) and new born screen (NBS) had been initiated in Taiwan since 2008. However, residual muscle weakness were noted. Decrease in amplitude of nerve compound muscle action potential (CMAP) and increase spontaneous activity were reported before the imitation of ERT. However, the motor development, motor function and electrodiagnostic presentation which were important in further direction of treatment and rehabilitation program arrangement in infantile Pompe disease (IOPD) under ERT is lacking. Aim To investigate the motor development, motor function and electrodiagnostic presentation in IOPD under ERT. Method This is an observational, prospective, longitudinal, follow-up study. Motor development was assessed by Alberta Infant Motor Scale (AIMS) and Peabody Developmental Motor Scales, Second Edition (PDMS II); motor function was assessed by Pediatric Evaluation of Disability Inventory (PEDI) and Gross Motor Function Measure (GMFM). Electrodiagnosis studies include nerve conduction study (NCS) and electromyography (EMG). Expect Effects Obtain the characteristics of motor development, motor function and electrodiagnosis presentation of IOPD under ERT, and the relation between motor development, motor function and electrodiagnosis presentation.

Interventions

OTHERobservation study

observation study

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* All patients with infantile onset Pompe disease (IOPD) who were diagnosed and follow-up at Taipei Veteran General Hospital (TVGH).

Exclusion criteria

* Patients whose guardian did not provide the inform consent.

Design outcomes

Primary

Measure	Time frame
Raw Score of Alberta Infant Motor Scale Development quotient of Peabody Developmental Motor Scales, Second Edition	1 year
Development Quotient of PDMS-II	1 year

Secondary

Measure	Time frame
Raw Score of Pediatric Evaluation of Disability Inventory Total score of GMFM	1 year
Total Score of GMFM	1 year

Other

Measure	Time frame
Percentile of active denervation in electrodiagnostic study	1 year

Countries

Taiwan

Contacts

Primary Contactchihjou lai

irbopinion@vghtpe.gov.tw886-28712121

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026