Pompe Disease Infantile-OnsetNCT04755751
Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease.
An observational study of Pompe Disease Infantile-Onset, run by Rambam Health Care Campus at 1 site in Israel.
Trial summary
Our aims are to investigate the acute and long term effect of ERT on exercise capacity; comparing the effect of different ERT dosages (as prescribed by the clinician according to clinical judgment) and assessing the relationship between enzyme blood level and exercise capacity. Read more about this study
- Who is it for?
- Ages 5 to 18 years
- Conditions the study is for
- Pompe Disease Infantile-Onset
- What is being tested?
- Cardiopulmonary exercise testing (CPET)
- How many people
- 4 participants
- Where
- 1 siteIsrael
- Study dates
- 24 Jun 2018to 1 Jan 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 5 to 18 years
- All sexes
- Child, Adult
Study population: Children with Pompe disease who are followed at Ruth Children's Hospital will be evaluated. Diagnosis is confirmed in all cases by deficient GAA activity in cultured fibroblasts or by Ultra Performance Liquid Chromatography - Tandem Mass Spectrometer (UPLC-MS/MS) in DBS and mutational analysis of genomic DNA, isolated from peripheral blood leukocyte.
Who may be able to join
- Pompe patients >5 years that have been on alpha-glucosidase (GAA).
Who cannot join
- Oxygen saturation > 90% in room air without ventilatory assistance.
- Patients will be excluded if they required any invasive ventilation or if they required noninvasive ventilation while awake and upright
Trial locations and contacts
1 site in 1 country.
Israel1 site, 1 recruiting
- Recruiting
Rambam Medical Center
Haifa
Ronen Bar-Yoseph, MD, +972-4-7774360, r_bar-yoseph@rmc.gov.il
About this study
Official title: Acute and Long Term Evaluation of Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease.
Our aims are to investigate the acute and long term effect of ERT on exercise capacity; comparing the effect of different ERT dosages (as prescribed by the clinician according to clinical judgment) and assessing the relationship between enzyme blood level and exercise capacity. Such evaluation may allow a more objective quantification of the response to ERT.
Read the detailed description
Pompe disease is a rare autosomal recessive metabolic myopathy caused by reduced or absence activity of the lysosomal enzyme acid alpha-glucosidase (GAA). Enzyme replacement therapy (ERT) with Myozyme has significantly improved the prospect of patients with infantile Pompe disease (IPD). Most IPD patients show clinical improvement on therapy, but deteriorate at different time points, raising the possibility that increasing drug delivery might halt the progression of the disease. Data on the effects of ERT therapy on physiological variables related to exercise tolerance is scarce.
Our aims are to investigate the acute and long term effect of ERT on exercise capacity; comparing the effect of different ERT dosages (as prescribed by the clinician according to clinical judgment) and assessing the relationship between enzyme blood level and exercise capacity. Such evaluation may allow a more objective quantification of the response to ERT.
Methods: A retrospective - prospective study evaluating pediatric patients with Pompe before and 2 days after ERT on multiple occasions and different dosing. Evaluation included cardiopulmonary exercise testing (CPET), 6 minute-walking test (6MWT), motor function test (GMFM-88) and self-collected blood samples (on a Guthrie card) for enzyme blood levels.
- Conditions
- Pompe Disease Infantile-Onset
- Being tested
- Cardiopulmonary exercise testing (CPET)
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cardiopulmonary exercise testing (CPET)Diagnostic test
CPET using a cycle ergometer (COSMED, Rome, Italy) beginning with a no resistance warm up lasting 1 to 3 minutes and followed with an incrementing resistance adapted to the patient's functional capacities according to the examiner's free judgment and ranging from no resistance (20 Rounds Per Minute (RPM)/minute) 5 to 20 Watts/minute on ramps or by successive stages
| Study group | Role | What they receive |
|---|---|---|
| Pediatric Pompe patients | A retrospective - prospective study evaluating pediatric patients with Pompe before and 2 days after ERT on multiple occasions and different dosing. Evaluation included cardiopulmonary exercise testing (CPET), 6 minute-walking test (6MWT), motor function test (GMFM-88) and self-collected blood samples (on a Guthrie card) for enzyme blood levels. Receives: Diagnostic Test: Cardiopulmonary exercise testing (CPET) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Exercise capacity
Oxygen uptake evaluated by cardiopulmonary exercise testing (CPET)
Measured: 1-6 years
Secondary outcomes (3)
Six minute walk test
The distance gained after six minute of habitual walking.
Measured: 1-6 years
Motor function test
Motor function test (GMFM-88) as assessed by experience physiotherapy.
Measured: 1-6 years
GAA enzyme level
Self-collected blood samples (on a Guthrie card) for lysosomal enzyme acid alpha-glucosidase (GAA) blood levels.
Measured: 1-6 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Feb 2021
- Study start24 Jun 2018
- Primary completion1 Jan 2023 (estimated)
- Study completion1 Jan 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe Disease Infantile-OnsetStudies of the same condition, open and under way.
- 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
- Other
- Enrolment
- 4 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Rambam Health Care Campus
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, l_bentur, Rambam Health Care Campus
- Investigators
- Lea Bentur, Principal investigator, Rambam Health Care Campus
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04755751
- Sponsor's protocol ID
- RMB-045-18
- Status last verified
- Feb 2021
- First submitted
- 10 Feb 2021
- Last updated
- 16 Feb 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: IPD is not planned to be available.
Study at a glance
From the registry record, last updated by the sponsor on 16 Feb 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Acute and Long Term Evaluation of Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease.
- ClinicalTrials.gov ID
- NCT04755751
- Acronym / sponsor ID
- RMB-045-18
- Conditions
- Pompe Disease Infantile-Onset
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 4 participants (estimated)
- Lead sponsor
- Rambam Health Care CampusUniversity, hospital or other
- Study start
- 24 Jun 2018 (actual)
- Primary completion
- 1 Jan 2023 (estimated)
- Study completion
- 1 Jan 2024 (estimated)
- First posted
- 16 Feb 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.
Our aims are to investigate the acute and long term effect of ERT on exercise capacity; comparing the effect of different ERT dosages (as prescribed by the clinician according to clinical judgment) and assessing the relationship between enzyme blood level and exercise capacity. Such evaluation may allow a more objective quantification of the response to ERT.
Detailed description
Pompe disease is a rare autosomal recessive metabolic myopathy caused by reduced or absence activity of the lysosomal enzyme acid alpha-glucosidase (GAA). Enzyme replacement therapy (ERT) with Myozyme has significantly improved the prospect of patients with infantile Pompe disease (IPD). Most IPD patients show clinical improvement on therapy, but deteriorate at different time points, raising the possibility that increasing drug delivery might halt the progression of the disease. Data on the effects of ERT therapy on physiological variables related to exercise tolerance is scarce.
Our aims are to investigate the acute and long term effect of ERT on exercise capacity; comparing the effect of different ERT dosages (as prescribed by the clinician according to clinical judgment) and assessing the relationship between enzyme blood level and exercise capacity. Such evaluation may allow a more objective quantification of the response to ERT.
Methods: A retrospective - prospective study evaluating pediatric patients with Pompe before and 2 days after ERT on multiple occasions and different dosing. Evaluation included cardiopulmonary exercise testing (CPET), 6 minute-walking test (6MWT), motor function test (GMFM-88) and self-collected blood samples (on a Guthrie card) for enzyme blood levels.
Study design
- Observational model
- Case only
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pediatric Pompe patients | – | Diagnostic Test: Cardiopulmonary exercise testing (CPET)A retrospective - prospective study evaluating pediatric patients with Pompe before and 2 days after ERT on multiple occasions and different dosing. Evaluation included cardiopulmonary exercise testing (CPET), 6 minute-walking test (6MWT), motor function test (GMFM-88) and self-collected blood samples (on a Guthrie card) for enzyme blood levels. |
Who may qualify
- Ages
- 5 to 18 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Children with Pompe disease who are followed at Ruth Children's Hospital will be evaluated. Diagnosis is confirmed in all cases by deficient GAA activity in cultured fibroblasts or by Ultra Performance Liquid Chromatography - Tandem Mass Spectrometer (UPLC-MS/MS) in DBS and mutational analysis of genomic DNA, isolated from peripheral blood leukocyte.
Key inclusion criteria (1 listed)
- Pompe patients >5 years that have been on alpha-glucosidase (GAA).
Key exclusion criteria (2 listed)
- Oxygen saturation > 90% in room air without ventilatory assistance.
- Patients will be excluded if they required any invasive ventilation or if they required noninvasive ventilation while awake and upright
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Cardiopulmonary exercise testing (CPET)CPET using a cycle ergometer (COSMED, Rome, Italy) beginning with a no resistance warm up lasting 1 to 3 minutes and followed with an incrementing resistance adapted to the patient's functional capacities according to the examiner's free judgment and ranging from no resistance (20 Rounds Per Minute (RPM)/minute) 5 to 20 Watts/minute on ramps or by successive stages | Diagnostic test | Pediatric Pompe patients |
Primary outcome
Exercise capacity
Time frame: 1-6 years
Oxygen uptake evaluated by cardiopulmonary exercise testing (CPET)
3 secondary outcomes
Six minute walk test
Time frame: 1-6 years
Motor function test
Time frame: 1-6 years
GAA enzyme level
Time frame: 1-6 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Feb 2021.
- Individual participant dataSharing planned: No. IPD is not planned to be available.
Related trials for Pompe Disease Infantile-Onset
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A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)
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Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa
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China Post-approval Commitment (PAC) Study of Avalglucosidase Alfa in Participants With IOPD
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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.
Lea Bentur principal investigator
Rambam Health Care Campus
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 Infantile-Onset, run by Rambam Health Care Campus at 1 site in Israel.
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 2 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 16 Feb 2021. 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 Israel. 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?
Contact Lea Bentur (+972-4-7774360, l_bentur@rambam.health.gov.il), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Exercise capacity (time frame: 1-6 years). 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 16 Feb 2021.