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

Pompe Disease Clinical Trial

Official title:

National Taiwan University Hospital

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04981210
• Other study ID #: 202012243RIPC
• Status: Recruiting
• Start date: August 1, 2021
• Est. completion date: July 31, 2024

Study information

• Verified date: August 2022
• Source: National Taiwan University Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1500
• Est. completion date: July 31, 2024
• Est. primary completion date: July 31, 2023
• Gender: All
• Age group: 1 Year to 18 Years

Eligibility

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.

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Pompe Disease

Locations

Country	Name	City	State
Taiwan	Wen-Chin Weng	Taipei

Sponsors (1)

Lead Sponsor	Collaborator
National Taiwan University Hospital

Country where clinical trial is conducted

Taiwan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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