High Risk Screen of Childhood Late-onset Pompe Disease in Pediatric Outpatient Clinics

National Taiwan University Hospital

Establish of high-risk screening criteria to earlier identify possible childhood LOPD for early treatment and better prognosis. Therefore, validation of the high-risk screening criteria for childhood LOPD will be critical for identifying children of LOPD in Taiwan.

Study Overview

• Status: Recruiting
• Conditions: Pompe Disease

• Study Type: Observational
• Enrollment (Anticipated): 1500

Contacts and Locations

Study Locations

• Taiwan
  • Taipei, Taiwan
    • Recruiting
    • Wen-Chin Weng
    • Contact: Wen-Chin Weng; Phone Number: 71619 +886-2-23123456; Email: wcweng@ntu.edu.tw

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 18 years (Child, Adult)
• Accepts Healthy Volunteers: N/A

• Sampling Method: Probability Sample

Study Population

Subjects who are >1 year and < 18 year of age will be enrolled from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH.

Description

Inclusion Criteria:

• Children who are >1 year and < 18 year of age from pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH

Exclusion Criteria:

• Children who have been diagnosed as specific neuromuscular disorders.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
suspect LOPD

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
clinical signs/symptoms surveyed - Weakness in neck (No.1)	Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria.	2 years
clinical signs/symptoms surveyed - Symptoms and signs of muscle weakness (No.2)	Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria. Symptoms and signs of muscle weakness including Frequent fall, difficulty to climb stairs, poor performance in physical education classes, gait abnormalities or facial weakness.	2 years
clinical signs/symptoms surveyed - Unable to speak clearly / keep slobbering (No.3)	Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria.	2 years
clinical signs/symptoms surveyed - Scoliosis (No.4)	Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria.	2 years
clinical signs/symptoms surveyed - Motor developmental delay (No.5)	Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria.	2 years
clinical signs/symptoms surveyed - Persist diarrhea with unknown cause (No.6)	Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria.	2 years
clinical signs/symptoms surveyed - Frequent respiratory infections (No.7)	Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria.	2 years
clinical signs/symptoms surveyed - Morning headache (No.8)	Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria.	2 years
clinical signs/symptoms surveyed - Urinary / Fecal incontinence (No.9)	Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria.	2 years
dry blood sample (DBS) - GAA activity analysis	Then we will use dry blood sample (DBS) or whole blood sample for screening the possibility of Pompe disease.	2 years

Collaborators and Investigators

• Sponsor: National Taiwan University Hospital

Study record dates

Study Major Dates

• Study Start (Actual): August 1, 2021
• Primary Completion (Anticipated): July 31, 2023
• Study Completion (Anticipated): July 31, 2024

Study Registration Dates

• First Submitted: July 7, 2021
• First Submitted That Met QC Criteria: July 21, 2021
• First Posted (Actual): July 28, 2021

Study Record Updates

• Last Update Posted (Actual): April 19, 2023
• Last Update Submitted That Met QC Criteria: April 17, 2023
• Last Verified: August 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Glycogen Storage Disease; Glycogen Storage Disease Type II
• Other Study ID Numbers: 202012243RIPC

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No