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Pompe disease (also known as glycogen storage disease Type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The objective of this exploratory study is to evaluate the safety and efficacy of alternative dosing regimens of alglucosidase alfa in patients with Pompe disease who have not demonstrated an optimal response to the standard dosing regimen of 20 mg/kg every other week after a minimum of 6 months treatment immediately prior to study entry.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| alglucosidase alfa 20 mg/kg every week | Experimental | Participants were treated with alglucosidase alfa 20 mg/kg every week for 52 weeks. This was the 'frequent dose' arm. |
|
| alglucosidase alfa 40 mg/kg every other week | Experimental | Participants were treated with alglucosidase alfa 40 mg/kg every other week for 52 weeks. This was the 'high dose' arm. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| alglucosidase alfa | Biological | intravenous infusion |
|
| Measure | Description | Time Frame |
|---|---|---|
| Participants' Efficacy Response During the Treatment Period as Compared to Baseline for Participants With Respiratory Decline on Standard Treatment | Participants were enrolled based on clinical decline or sub-optimal clinical response in cardiac, respiratory and/or motor function parameters pre-study while on standard treatment. Each participant was evaluated at Week 52 for change from baseline in the criteria that declined; respiratory decline as measured by change in ventilator use is summarized in this outcome. Ventilator use might have improved (less use of ventilator support), had no change, or worsened (more use of ventilator support). Each participant served as his or her own control. | Baseline, Week 52 |
| Participants' Efficacy Response During the Treatment Period as Compared to Baseline for Participants With Motor Function Decline on Standard Treatment | Participants were enrolled based on clinical decline or sub-optimal clinical response in cardiac, respiratory and/or motor function parameters pre-study while on standard treatment. Each participant was evaluated at Week 52 for change from baseline in the criteria that declined; motor function decline primarily based on Gross Motor Function Measure 66 and Pompe Pediatric Evaluation of Disability Inventory results is summarized. Participants could gain motor function (improve), had no change (declined stopped), or continued loss (worsened). Each participant served as his or her own control. | Baseline, Week 52 |
| Summary of Participants Reporting Treatment-Emergent Adverse Events During the Treatment Period | Overall safety summary of participants experiencing Adverse Events (AEs), Serious Adverse Events (SAEs), treatment-related AEs, and Infusion Associated Reactions (IARs). Summary is based on Treatment-emergent AEs (TEAEs), defined as AEs that occurred following the initiation of study treatment. | Day 1 up to Week 52 |
| Measure | Description | Time Frame |
|---|---|---|
| Baseline Values for Left Ventricular Mass (LVM) Z-Scores | Z-Scores indicate the number of standard deviations (SD) from the mean in a normal distribution. Negative values indicate a smaller than mean LVM and values higher than 0 indicate a larger LVM than the mean. The normal range is -2 to 2 and greater than 2 may indicate left ventricular hypertrophy. The Z-scores for all parameters are calculated with reference to the normative data from the Children's Hospital, Boston, MA (Colan, 1992, J Am Coll Cardiol) based on the reference population with matched body surface area (BSA). Z-scores for LVM were provided by the central cardiologist. |
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Inclusion Criteria:
The patient or patient's legal guardian must provide signed, informed consent prior to performing any study-related procedures;
The patient must have a clinical diagnosis of Pompe disease as defined by documented GAA deficiency in skin fibroblasts or blood;
The patient must have been compliant with the standard dosing regimen of alglucosidase alfa (20 mg/kg every other week) for a minimum of 6 months immediately prior to study entry
The patient must have clinical decline or sub-optimal improvement in at least one of the following parameters as compared to their condition prior to the beginning alglucosidase alfa treatment:
For patients ≤ 2 years of age at study entry, failure to acquire at least 2 new gross motor milestones after a minimum of 6 months of regular treatment with alglucosidase alfa; OR
For patients > 2 years of age at study entry, worsening of proximal upper extremity muscle weakness as determined by the Investigator through loss of functional use of the upper extremities after a minimum of 6 months of regular treatment with alglucosidase alfa, OR
For patients > 8 years of age at study entry, worsening of proximal upper extremity muscle weakness as determined by the Investigator through longitudinal assessments of manual muscle testing after a minimum of 6 months of regular treatment with alglucosidase alfa, OR
For patients previously ambulatory, progression to use of an assistive device for ambulation due to worsening of proximal lower extremity muscle weakness after a minimum of 6 months of regular treatment with alglucosidase alfa.
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Medical Monitor | Genzyme, a Sanofi Company | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Birmingham | Alabama | United States | ||||
Fourteen participants were screened and enrolled; however, one withdrew before receiving any study infusions due to the burden of weekly trips to the medical center.
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| ID | Title | Description |
|---|---|---|
| FG000 | Alglucosidase Alfa 20 mg/kg Every Week | Participants were treated with alglucosidase alfa 20 mg/kg every week for 52 weeks. This was the 'frequent dose' arm. |
| FG001 | Alglucosidase Alfa 40 mg/kg Every Other Week |
| Title | Milestones | Reasons Not Completed | |||||
|---|---|---|---|---|---|---|---|
| Treatment Period |
|
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| Day 0 |
| Change From Baseline in Left Ventricular Mass (LVM) Z-Score at Week 52 | Z-Scores indicate the number of standard deviations (SD) from the mean in a normal distribution. A negative change from baseline indicates a decrease and positive change from baseline an increase in LVM Z-score. The normal range is -2 to 2 and greater than 2 may indicate left ventricular hypertrophy. The Z-scores for all parameters are calculated with reference to the normative data from the Children's Hospital, Boston, MA (Colan, 1992, J Am Coll Cardiol) based on the reference population with matched body surface area (BSA). Z-scores for LVM were provided by the central cardiologist. | Baseline, Week 52 |
| Baseline Values for Left Ventricular Mass Index (LVMI) | Cardiac pathophysiology was assessed by a central cardiologist using left ventricular mass index (LVMI) measured by echocardiogram at Baseline. Left Ventricular Mass is adjusted to the participant's body surface area in the calculation of LVMI. | Day 0 |
| Change From Baseline in Left Ventricular Mass Index (LVMI) at Week 52 | Cardiac pathophysiology was assessed by a central cardiologist using left ventricular mass index (LVMI) measured by echocardiogram at Baseline and after 12 months of treatment (Week 52). Left Ventricular Mass is adjusted to the participant's body surface area in the calculation of LVMI. | Baseline, Week 52 |
| Change From Baseline in Ventilator Use at Last Assessment (Approximately Week 52) | The change from baseline in ventilator use at the last assessment is summarized as improved (less use of ventilator support), no change, worsened (increased use of ventilator support), and did not use ventilator support. | Baseline, approximately Week 52 |
| Change From Baseline in Body Strength Measured by the Manual Muscle Testing (MMT) Total Score at Week 52 | Body strength is measured by the MMT score on a scale of 0-10 with higher scores representing greater body strength. | Baseline, Week 52 |
| Baseline Values of Raw Scores for Gross Motor Function Measure 66 (GMFM-66) Results | The Gross Motor Function Measure 66 contains sixty-six questions with a total raw score range of 0 - 198. Raw scores are derived from the following dimensions: Lying and rolling = 12; Sitting = 45; Crawling and kneeling = 30; Standing = 39; Walking, running and jumping = 72. Higher scores indicate better gross motor functions. | Day 0 |
| Change From Baseline in Raw Scores for Gross Motor Function Measure 66 (GMFM-66) Results at Week 52 | The Gross Motor Function Measure 66 contains sixty-six questions with a total raw score range of 0 - 198. Raw scores are derived from the following dimensions: Lying and rolling = 12; Sitting = 45; Crawling and kneeling = 30; Standing = 39; Walking, running and jumping = 72. Higher scores indicate better gross motor functions. | Baseline, Week 52 |
| Baseline Values in Mobility as Measured by the Pompe Pediatric Evaluation of Disability Inventory (Pompe PEDI) | The Pompe PEDI is a disease specific version of the PEDI that was developed to assess functional capabilities and performance in children with Pompe disease from 2 months through adolescence. Baseline results for the mobility domain are reported. Scaled scores are used as an evaluative measure of change in performance over time with acquisition of new skills or new levels of independence. The range of scores is from 0-100 with scores near "0" reflecting low capability and scores near "100" reflecting high capability. | Day 0 |
| Change From Baseline in Mobility as Measured by the Pompe Pediatric Evaluation of Disability Inventory (Pompe PEDI) at Week 52 | The Pompe PEDI is a disease specific version of the PEDI that was developed to assess functional capabilities and performance in children with Pompe disease from 2 months through adolescence. Change from baseline results for the mobility domain are reported. Scaled scores are used as an evaluative measure of change in performance over time with acquisition of new skills or new levels of independence. The range of scores is from 0-100 with scores near "0" reflecting low capability and scores near "100" reflecting high capability. | Baseline, Week 52 |
| Baseline Values for Normative Physical Component Summary of Medical Outcomes Study Short Form Health Survey (SF-36) | Health related quality of life is measured using the Physical Component Summary (PCS) score of the Medical Outcomes Study (MOS) Short Form Health Survey (SF-36) for participants ≥14 years of age. SF-36 normative-based scoring has a mean of 50 and a standard deviation of 10. Higher scores represent better quality of life. | Day 0 |
| Change From Baseline in Normative Physical Component Summary of Medical Outcomes Study Short Form Health Survey (SF-36) at Week 52 | Health related quality of life is measured using the Physical Component Summary (PCS) score of the Medical Outcomes Study (MOS) Short Form Health Survey (SF-36) for participants ≥14 years of age. SF-36 normative-based scoring has a mean of 50 and a standard deviation of 10. Higher scores represent better quality of life. | Baseline, Week 52 |
| Stanford |
| California |
| United States |
| Washington D.C. | District of Columbia | United States |
| Chicago | Illinois | United States |
| Kansas City | Kansas | United States |
| Boston | Massachusetts | United States |
| Grand Rapids | Michigan | United States |
| Glenn Falls | New York | United States |
| Durham | North Carolina | United States |
| Parkville Victoria | Australia |
| Calgary | Alberta | Canada |
Participants were treated with alglucosidase alfa 40 mg/kg every other week for 52 weeks. This was the 'high dose' arm.
| COMPLETED |
|
| NOT COMPLETED |
|
|
| Extension Period |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Alglucosidase Alfa 20 mg/kg Every Week | Participants were treated with alglucosidase alfa 20 mg/kg every week for 52 weeks. This was the 'frequent dose' arm. |
| BG001 | Alglucosidase Alfa 40 mg/kg Every Other Week | Participants were treated with alglucosidase alfa 40 mg/kg every other week for 52 weeks. This was the 'high dose' arm. |
| BG002 | Total | Total of all reporting groups |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean | Standard Deviation | years |
| |||||||||||||||
| Age, Customized | Number | participants |
| ||||||||||||||||
| Sex: Female, Male | Count of Participants | Participants |
| ||||||||||||||||
| Race (NIH/OMB) | Count of Participants | Participants |
| ||||||||||||||||
| Life-stage of Disease Onset | Number | participants |
| ||||||||||||||||
| Parameter in Clinical Decline | Participant counts of the parameter in clinical decline (cardiac, respiratory or motor skills as compared to their condition prior to the beginning alglucosidase alfa treatment) for which participants were included in the study. | Number | participants |
| |||||||||||||||
| Cross-Reactive Immunologic Material (CRIM) Assay Result | Number | participants |
|
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Participants' Efficacy Response During the Treatment Period as Compared to Baseline for Participants With Respiratory Decline on Standard Treatment | Participants were enrolled based on clinical decline or sub-optimal clinical response in cardiac, respiratory and/or motor function parameters pre-study while on standard treatment. Each participant was evaluated at Week 52 for change from baseline in the criteria that declined; respiratory decline as measured by change in ventilator use is summarized in this outcome. Ventilator use might have improved (less use of ventilator support), had no change, or worsened (more use of ventilator support). Each participant served as his or her own control. | All participants who enrolled due to decline in respiratory function while on standard treatment. | Posted | Number | participants | Baseline, Week 52 |
|
|
| ||||||||||||||||||||||||||||||||||||
| Secondary | Baseline Values for Left Ventricular Mass (LVM) Z-Scores | Z-Scores indicate the number of standard deviations (SD) from the mean in a normal distribution. Negative values indicate a smaller than mean LVM and values higher than 0 indicate a larger LVM than the mean. The normal range is -2 to 2 and greater than 2 may indicate left ventricular hypertrophy. The Z-scores for all parameters are calculated with reference to the normative data from the Children's Hospital, Boston, MA (Colan, 1992, J Am Coll Cardiol) based on the reference population with matched body surface area (BSA). Z-scores for LVM were provided by the central cardiologist. | Full analysis population of participants with LVM data | Posted | Median | Full Range | Z-score | Day 0 |
|
| ||||||||||||||||||||||||||||||||||||
| Secondary | Change From Baseline in Left Ventricular Mass (LVM) Z-Score at Week 52 | Z-Scores indicate the number of standard deviations (SD) from the mean in a normal distribution. A negative change from baseline indicates a decrease and positive change from baseline an increase in LVM Z-score. The normal range is -2 to 2 and greater than 2 may indicate left ventricular hypertrophy. The Z-scores for all parameters are calculated with reference to the normative data from the Children's Hospital, Boston, MA (Colan, 1992, J Am Coll Cardiol) based on the reference population with matched body surface area (BSA). Z-scores for LVM were provided by the central cardiologist. | Full analysis population of participants with LVM data at both timepoints | Posted | Median | Full Range | Z-score | Baseline, Week 52 |
|
| ||||||||||||||||||||||||||||||||||||
| Secondary | Baseline Values for Left Ventricular Mass Index (LVMI) | Cardiac pathophysiology was assessed by a central cardiologist using left ventricular mass index (LVMI) measured by echocardiogram at Baseline. Left Ventricular Mass is adjusted to the participant's body surface area in the calculation of LVMI. | Full analysis population of participants with LVMI data | Posted | Median | Full Range | g/m^2 | Day 0 |
|
| ||||||||||||||||||||||||||||||||||||
| Secondary | Change From Baseline in Left Ventricular Mass Index (LVMI) at Week 52 | Cardiac pathophysiology was assessed by a central cardiologist using left ventricular mass index (LVMI) measured by echocardiogram at Baseline and after 12 months of treatment (Week 52). Left Ventricular Mass is adjusted to the participant's body surface area in the calculation of LVMI. | Full analysis population of participants with LVMI data at both timepoints | Posted | Median | Full Range | g/m^2 | Baseline, Week 52 |
|
| ||||||||||||||||||||||||||||||||||||
| Secondary | Change From Baseline in Ventilator Use at Last Assessment (Approximately Week 52) | The change from baseline in ventilator use at the last assessment is summarized as improved (less use of ventilator support), no change, worsened (increased use of ventilator support), and did not use ventilator support. | Full analysis population. The participant in the worsened category died after week 52. | Posted | Number | participants | Baseline, approximately Week 52 |
|
| |||||||||||||||||||||||||||||||||||||
| Secondary | Change From Baseline in Body Strength Measured by the Manual Muscle Testing (MMT) Total Score at Week 52 | Body strength is measured by the MMT score on a scale of 0-10 with higher scores representing greater body strength. | Full analysis population of participants >= 8 years old. Due to the age restriction and small study population, the number of participants analyzed is too small for results to be meaningful. | Posted | Baseline, Week 52 |
|
| |||||||||||||||||||||||||||||||||||||||
| Secondary | Baseline Values of Raw Scores for Gross Motor Function Measure 66 (GMFM-66) Results | The Gross Motor Function Measure 66 contains sixty-six questions with a total raw score range of 0 - 198. Raw scores are derived from the following dimensions: Lying and rolling = 12; Sitting = 45; Crawling and kneeling = 30; Standing = 39; Walking, running and jumping = 72. Higher scores indicate better gross motor functions. | Full analysis population | Posted | Mean | Standard Deviation | units on a scale | Day 0 |
|
| ||||||||||||||||||||||||||||||||||||
| Secondary | Change From Baseline in Raw Scores for Gross Motor Function Measure 66 (GMFM-66) Results at Week 52 | The Gross Motor Function Measure 66 contains sixty-six questions with a total raw score range of 0 - 198. Raw scores are derived from the following dimensions: Lying and rolling = 12; Sitting = 45; Crawling and kneeling = 30; Standing = 39; Walking, running and jumping = 72. Higher scores indicate better gross motor functions. | Full analysis population | Posted | Mean | Standard Deviation | units on a scale | Baseline, Week 52 |
|
| ||||||||||||||||||||||||||||||||||||
| Secondary | Baseline Values in Mobility as Measured by the Pompe Pediatric Evaluation of Disability Inventory (Pompe PEDI) | The Pompe PEDI is a disease specific version of the PEDI that was developed to assess functional capabilities and performance in children with Pompe disease from 2 months through adolescence. Baseline results for the mobility domain are reported. Scaled scores are used as an evaluative measure of change in performance over time with acquisition of new skills or new levels of independence. The range of scores is from 0-100 with scores near "0" reflecting low capability and scores near "100" reflecting high capability. | Full analysis population | Posted | Mean | Standard Deviation | units on a scale | Day 0 |
|
| ||||||||||||||||||||||||||||||||||||
| Secondary | Change From Baseline in Mobility as Measured by the Pompe Pediatric Evaluation of Disability Inventory (Pompe PEDI) at Week 52 | The Pompe PEDI is a disease specific version of the PEDI that was developed to assess functional capabilities and performance in children with Pompe disease from 2 months through adolescence. Change from baseline results for the mobility domain are reported. Scaled scores are used as an evaluative measure of change in performance over time with acquisition of new skills or new levels of independence. The range of scores is from 0-100 with scores near "0" reflecting low capability and scores near "100" reflecting high capability. | Full analysis population | Posted | Mean | Standard Deviation | units on a scale | Baseline, Week 52 |
|
| ||||||||||||||||||||||||||||||||||||
| Secondary | Baseline Values for Normative Physical Component Summary of Medical Outcomes Study Short Form Health Survey (SF-36) | Health related quality of life is measured using the Physical Component Summary (PCS) score of the Medical Outcomes Study (MOS) Short Form Health Survey (SF-36) for participants ≥14 years of age. SF-36 normative-based scoring has a mean of 50 and a standard deviation of 10. Higher scores represent better quality of life. | Full analysis population of participants >= 14 years old. | Posted | Mean | Standard Deviation | units on a scale | Day 0 |
|
| ||||||||||||||||||||||||||||||||||||
| Secondary | Change From Baseline in Normative Physical Component Summary of Medical Outcomes Study Short Form Health Survey (SF-36) at Week 52 | Health related quality of life is measured using the Physical Component Summary (PCS) score of the Medical Outcomes Study (MOS) Short Form Health Survey (SF-36) for participants ≥14 years of age. SF-36 normative-based scoring has a mean of 50 and a standard deviation of 10. Higher scores represent better quality of life. | Full analysis population of participants >= 14 years old. | Posted | Mean | Standard Deviation | units on a scale | Baseline, Week 52 |
|
| ||||||||||||||||||||||||||||||||||||
| Primary | Participants' Efficacy Response During the Treatment Period as Compared to Baseline for Participants With Motor Function Decline on Standard Treatment | Participants were enrolled based on clinical decline or sub-optimal clinical response in cardiac, respiratory and/or motor function parameters pre-study while on standard treatment. Each participant was evaluated at Week 52 for change from baseline in the criteria that declined; motor function decline primarily based on Gross Motor Function Measure 66 and Pompe Pediatric Evaluation of Disability Inventory results is summarized. Participants could gain motor function (improve), had no change (declined stopped), or continued loss (worsened). Each participant served as his or her own control. | All participants who enrolled due to decline in motor function while on standard treatment. | Posted | Number | participants | Baseline, Week 52 |
| ||||||||||||||||||||||||||||||||||||||
| Primary | Summary of Participants Reporting Treatment-Emergent Adverse Events During the Treatment Period | Overall safety summary of participants experiencing Adverse Events (AEs), Serious Adverse Events (SAEs), treatment-related AEs, and Infusion Associated Reactions (IARs). Summary is based on Treatment-emergent AEs (TEAEs), defined as AEs that occurred following the initiation of study treatment. | Safety population comprised of all participants who received intervention. | Posted | Number | participants | Day 1 up to Week 52 |
|
|
Treatment period AEs were collected up to week 52. Extension period AEs were collected following completion of the treatment period until the product was commercially available (up to week 118).
In the event a single participant has experienced both a serious and a non-serious form of the same adverse event term, the individual has been included in the numerator ("number of affected participants") of both adverse event tables.
Events are listed independent of relationship to treatment reported.
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Treatment: Alglucosidase Alfa 20 mg/kg Every Week | Participants were treated with alglucosidase alfa 20 mg/kg every week for 52 weeks. This was the 'frequent dose' arm. | 2 | 6 | 6 | 6 | ||
| EG001 | Treatment: Alglucosidase Alfa 40 mg/kg Every Other Week | Participants were treated with alglucosidase alfa 40 mg/kg every other week for 52 weeks. This was the 'high dose' arm. | 1 | 7 | 7 | 7 | ||
| EG002 | Extension: Alglucosidase Alfa 20 mg/kg Every Week | The extension period of the study allowed late-onset participants access to the same treatment they took in the treatment period until the product was commercially available. | 1 | 1 | 1 | 1 | ||
| EG003 | Extension: Alglucosidase Alfa 40 mg/kg Every Other Week | The extension period of the study allowed late-onset participants access to the same treatment they took in the treatment period until the product was commercially available. | 0 | 2 | 1 | 2 |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Supraventricular tachycardia | Cardiac disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Dysphagia | Gastrointestinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Device related infection | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Pneumonia | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Fibula fracture | Injury, poisoning and procedural complications | MedDRA 13.0 | Systematic Assessment |
| |
| Weight decreased | Investigations | MedDRA 13.0 | Systematic Assessment |
| |
| Respiratory failure | Respiratory, thoracic and mediastinal disorders | MedDRA 13.0 | Systematic Assessment |
|
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Lymphadenitis | Blood and lymphatic system disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Lymphadenopathy | Blood and lymphatic system disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Right ventricular hypertrophy | Cardiac disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Tachycardia | Cardiac disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Hypoacusis | Ear and labyrinth disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Dry eye | Eye disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Eyelid ptosis | Eye disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Abdominal discomfort | Gastrointestinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Abdominal pain upper | Gastrointestinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Amalgam tattoo | Gastrointestinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Anal fissure | Gastrointestinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Aphthous stomatitis | Gastrointestinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Constipation | Gastrointestinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Diarrhoea | Gastrointestinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Haematochezia | Gastrointestinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Nausea | Gastrointestinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Vomiting | Gastrointestinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Adverse drug reaction | General disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Asthenia | General disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Fatigue | General disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Generalised oedema | General disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Pyrexia | General disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Abscess limb | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Acute sinusitis | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Candidiasis | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Cellulitis | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Device related infection | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Ear infection | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Fungal skin infection | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Gastroenteritis viral | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Gastrointestinal viral infection | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Hordeolum | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Influenza | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Nasopharyngitis | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Otitis media | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Otitis media acute | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Pneumococcal infection | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Pneumonia | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Rash pustular | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
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| Respiratory tract infection bacterial | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Respiratory tract infection viral | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Sinusitis | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Streptococcal infection | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Subcutaneous abscess | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Tonsillitis | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Tooth abscess | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Upper respiratory tract infection | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Urinary tract infection | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Varicella | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Viral infection | Infections and infestations | MedDRA 13.0 | Systematic Assessment |
| |
| Arthropod bite | Injury, poisoning and procedural complications | MedDRA 13.0 | Systematic Assessment |
| |
| Contusion | Injury, poisoning and procedural complications | MedDRA 13.0 | Systematic Assessment |
| |
| Epicondylitis | Injury, poisoning and procedural complications | MedDRA 13.0 | Systematic Assessment |
| |
| Excoriation | Injury, poisoning and procedural complications | MedDRA 13.0 | Systematic Assessment |
| |
| Fall | Injury, poisoning and procedural complications | MedDRA 13.0 | Systematic Assessment |
| |
| Muscle strain | Injury, poisoning and procedural complications | MedDRA 13.0 | Systematic Assessment |
| |
| Vaccination complication | Injury, poisoning and procedural complications | MedDRA 13.0 | Systematic Assessment |
| |
| Aspiration tracheal abnormal | Investigations | MedDRA 13.0 | Systematic Assessment |
| |
| Blood calcium increased | Investigations | MedDRA 13.0 | Systematic Assessment |
| |
| Breath sounds abnormal | Investigations | MedDRA 13.0 | Systematic Assessment |
| |
| Heart rate irregular | Investigations | MedDRA 13.0 | Systematic Assessment |
| |
| Prostatic specific antigen increased | Investigations | MedDRA 13.0 | Systematic Assessment |
| |
| Protein urine present | Investigations | MedDRA 13.0 | Systematic Assessment |
| |
| White blood cells urine positive | Investigations | MedDRA 13.0 | Systematic Assessment |
| |
| Dehydration | Metabolism and nutrition disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Gout | Metabolism and nutrition disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Hypocalcaemia | Metabolism and nutrition disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Hypoglycaemia | Metabolism and nutrition disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Hypokalaemia | Metabolism and nutrition disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Hypomagnesaemia | Metabolism and nutrition disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Back pain | Musculoskeletal and connective tissue disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Muscle spasms | Musculoskeletal and connective tissue disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Myalgia | Musculoskeletal and connective tissue disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Pain in extremity | Musculoskeletal and connective tissue disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Dizziness | Nervous system disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Headache | Nervous system disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Hypotonia | Nervous system disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Presyncope | Nervous system disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Restless legs syndrome | Nervous system disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Somnolence | Nervous system disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Tremor | Nervous system disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Pollakiuria | Renal and urinary disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Asthma | Respiratory, thoracic and mediastinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Atelectasis | Respiratory, thoracic and mediastinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Cough | Respiratory, thoracic and mediastinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Dyspnoea | Respiratory, thoracic and mediastinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Increased bronchial secretion | Respiratory, thoracic and mediastinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Oropharyngeal pain | Respiratory, thoracic and mediastinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Vasomotor rhinitis | Respiratory, thoracic and mediastinal disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Dermatitis diaper | Skin and subcutaneous tissue disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Eczema | Skin and subcutaneous tissue disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Erythema | Skin and subcutaneous tissue disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Rash | Skin and subcutaneous tissue disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Rash erythematous | Skin and subcutaneous tissue disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Rash macular | Skin and subcutaneous tissue disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Urticaria | Skin and subcutaneous tissue disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Blood pressure fluctuation | Vascular disorders | MedDRA 13.0 | Systematic Assessment |
| |
| Hypotension | Vascular disorders | MedDRA 13.0 | Systematic Assessment |
|
This small exploratory study lacked a parallel control arm at the standard dose for a longer period; decline in respiratory or motor function prior to study was not collected systematically, thus change from baseline observations are inconclusive.
In multi-site studies, PI will delay submission of a publication until the earlier of; (i) publication of the multi-center data by Genzyme (ii)12-24 months after study completion or termination of the Study at all sites, or (iii) Genzyme notification that a publication will not occur. PI will send Genzyme a draft 60 days before publication. Genzyme can defer publication 90-120 days upon notifying PI that it will file a patent application on inventions contained in the draft.
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Genzyme Medical Information | Genzyme Corporation | 800-745-4447 |
| ID | Term |
|---|---|
| D006009 | Glycogen Storage Disease Type II |
| ID | Term |
|---|---|
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006008 | Glycogen Storage Disease |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
Not provided
Not provided
| ID | Term |
|---|---|
| C509951 | GAA protein, human |
Not provided
Not provided
Not provided
| >= 18 and <=65 years |
|
| >65 years |
|
| Male |
|
| Asian |
|
| Native Hawaiian or Other Pacific Islander |
|
| Black or African American |
|
| White |
|
| More than one race |
|
| Unknown or Not Reported |
|
| Late-onset Pompe Disease |
|
| Respiratory |
|
| Motor Skills |
|
| Negative |
|
| Unknown |
|
| Worsened |
|
| Not evaluated |
|
|
|
| Participants |
|
|
|
|
|
|
|
|
|
| Participants |
|
|
|
|
| Units | Counts |
|---|
| Participants |
|
|
|