Pompe DiseaseNCT04981210
High Risk Screen of Childhood Late-onset Pompe Disease in Pediatric Outpatient Clinics
An observational study of Pompe Disease, run by National Taiwan University Hospital at 1 site in Taiwan.
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. Read more about this study
- Who is it for?
- Ages 1 year to 18 years
- Conditions the study is for
- Pompe Disease
- How many people
- 1,500 participants
- Where
- 1 siteTaiwan
- Study dates
- 1 Aug 2021to 31 Jul 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 18 years
- All sexes
- Child, Adult
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.
Who may be able to join
- Children who are >1 year and < 18 year of age from pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH
Who cannot join
- Children who have been diagnosed as specific neuromuscular disorders.
Trial locations and contacts
1 site in 1 country.
Taiwan1 site, 1 recruiting
- Recruiting
Wen-Chin Weng
Taipei
Wen-Chin Weng, +886-2-23123456 ext. 71619, wcweng@ntu.edu.tw
About this study
Official title: 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.
- Conditions
- Pompe Disease
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| suspect LOPD | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jul 2021
- Study start1 Aug 2021
- Primary completion31 Jul 2023 (estimated)
- Study completion31 Jul 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- More trials run by National Taiwan University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04981210
- Sponsor's protocol ID
- 202012243RIPC
- Status last verified
- Aug 2022
- First submitted
- 7 Jul 2021
- Last updated
- 19 Apr 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Apr 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- National Taiwan University Hospital
- ClinicalTrials.gov ID
- NCT04981210
- Acronym / sponsor ID
- 202012243RIPC
- Conditions
- Pompe Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- 1 Aug 2021 (actual)
- Primary completion
- 31 Jul 2023 (estimated)
- Study completion
- 31 Jul 2024 (estimated)
- First posted
- 28 Jul 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| suspect LOPD | – | – |
Who may qualify
- Ages
- 1 year to 18 years
- Sex
- All
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (1 listed)
- Children who are >1 year and < 18 year of age from pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH
Key exclusion criteria (1 listed)
- Children who have been diagnosed as specific neuromuscular disorders.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Apr 2023.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe Disease, run by National Taiwan University Hospital at 1 site in Taiwan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 19 Apr 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
clinical signs/symptoms surveyed - Weakness in neck (No.1) (time frame: 2 years). The study lists 10 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Apr 2023.