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

NCT04981210 | Unknown

• 1 other identifier: 202012243RIPC
• Study Type: observational
• Target: 1,500
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Pompe Disease

Outcome Measures

Primary Outcomes (10)

• 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

Study Arms (1)

suspect LOPD

Eligibility Criteria

• Age: 1 Year - 18 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

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

You may not qualify if:

• Children who have been diagnosed as specific neuromuscular disorders.

Sponsors & Collaborators

• National Taiwan University Hospital: lead

Study Sites (1)

Wen-Chin Weng

Taipei, Taiwan

RECRUITING

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 7, 2021
• First Posted: July 28, 2021
• Study Start: August 1, 2021
• Primary Completion: July 31, 2023
• Study Completion: July 31, 2024
• Last Updated: April 19, 2023

Record last verified: 2022-08

Locations

TW (1)