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

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ClinicalTrials.gov Identifier: NCT04981210
Recruitment Status : Not yet recruiting
First Posted : July 28, 2021
Last Update Posted : July 28, 2021
Sponsor:
Information provided by (Responsible Party):
National Taiwan University Hospital

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.

Condition or disease
Pompe Disease

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Study Type : Observational
Estimated Enrollment : 1500 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: National Taiwan University Hospital
Estimated Study Start Date : August 1, 2021
Estimated Primary Completion Date : July 31, 2022
Estimated Study Completion Date : July 31, 2023


Group/Cohort
suspect LOPD



Primary Outcome Measures :
  1. clinical signs/symptoms surveyed - Weakness in neck (No.1) [ Time Frame: 2 years ]
    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. clinical signs/symptoms surveyed - Symptoms and signs of muscle weakness (No.2) [ Time Frame: 2 years ]

    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.


  3. clinical signs/symptoms surveyed - Unable to speak clearly / keep slobbering (No.3) [ Time Frame: 2 years ]
    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.

  4. clinical signs/symptoms surveyed - Scoliosis (No.4) [ Time Frame: 2 years ]
    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.

  5. clinical signs/symptoms surveyed - Motor developmental delay (No.5) [ Time Frame: 2 years ]
    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.

  6. clinical signs/symptoms surveyed - Persist diarrhea with unknown cause (No.6) [ Time Frame: 2 years ]
    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.

  7. clinical signs/symptoms surveyed - Frequent respiratory infections (No.7) [ Time Frame: 2 years ]
    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.

  8. clinical signs/symptoms surveyed - Morning headache (No.8) [ Time Frame: 2 years ]
    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.

  9. clinical signs/symptoms surveyed - Urinary / Fecal incontinence (No.9) [ Time Frame: 2 years ]
    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.

  10. dry blood sample (DBS) - GAA activity analysis [ Time Frame: 2 years ]
    Then we will use dry blood sample (DBS) or whole blood sample for screening the possibility of Pompe disease.



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Ages Eligible for Study:   1 Year to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
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.
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04981210


Locations
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Taiwan
Wen-Chin Weng
Taipei, Taiwan
Contact: Wen-Chin Weng    +886-2-23123456 ext 71619    wcweng@ntu.edu.tw   
Sponsors and Collaborators
National Taiwan University Hospital
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Responsible Party: National Taiwan University Hospital
ClinicalTrials.gov Identifier: NCT04981210    
Other Study ID Numbers: 202012243RIPC
First Posted: July 28, 2021    Key Record Dates
Last Update Posted: July 28, 2021
Last Verified: January 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
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
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases