Clinical trial NCT02761421: Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
Official title: Effect of Motor Development, Motor Function and Electrodiagnostic Characteristic of IOPD Under ERT
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Glycogen Storage Disease Type II
Keywords: IOPD
Lead sponsor: Taipei Veterans General Hospital, Taiwan
Sponsor class: OTHER_GOV
First posted: 2016-05-04
Enrollment: 15
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The investigators included all patients with infantile onset Pompe disease (IOPD) who were diagnosed and follow-up at Taipei Veteran General Hospital (TVGH) and excluded patients whose guardian did not provide the inform consent.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Raw Score of Alberta Infant Motor Scale Development quotient of Peabody Developmental Motor Scales, Second Edition
timeFrame: 1 year
measure: Development Quotient of PDMS-II
timeFrame: 1 year
Secondary outcomes:
measure: Raw Score of Pediatric Evaluation of Disability Inventory Total score of GMFM
timeFrame: 1 year
measure: Total Score of GMFM
timeFrame: 1 year
Other outcomes:
measure: Percentile of active denervation in electrodiagnostic study
timeFrame: 1 year
Locations:
city: Taipei
country: Taiwan
facility: Taipei Veteran General Hospital : Taipei City, Taiwan 11217, R.O.C.
Study officials:
References: