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| ID | Type | Description | Link |
|---|---|---|---|
| 2010-020611-36 | EudraCT Number | ||
| MSC12823 | Other Identifier | Sanofi |
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This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT). The primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in participants with Late-Onset Pompe disease.
The secondary objectives are to characterize the disease burden in participants with late-onset Pompe disease and explore imaging, histologic, and functional assessments in these participants and to explore potential plasma or urine biomarkers relative to late-onset Pompe disease and participant's response to treatment with alglucosidase alfa (Myozyme®/Lumizyme®/GZ419829).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Alglucosidase Alfa | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Alglucosidase Alfa | Biological | Alglucosidase alfa intravenous infusion 20 milligram per kilogram (mg/kg) every other week for 24 weeks. |
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| Measure | Description | Time Frame |
|---|---|---|
| Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26 | Tissue glycogen content was measured by quadriceps biopsies as 'percent area of tissue occupied by glycogen'. | Baseline, Week 26 |
| Measure | Description | Time Frame |
|---|---|---|
| Glycogen Distribution | Baseline, Week 26 | |
| Muscle Fiber Morphology | Baseline, Week 26 | |
| Lysosomal Inclusions |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Medical Monitor | Genzyme, a Sanofi Company | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Orange | California | United States | ||||
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 27473031 | Derived | van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19. |
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The study was conducted at 11 centers between July 06, 2011 and December 19, 2013.
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| ID | Title | Description |
|---|---|---|
| FG000 | Alglucosidase Alfa | Alglucosidase alfa intravenous infusion 20 milligram per kilogram (mg/kg) every other week for 24 weeks. |
| Title | Milestones | Reasons Not Completed | |||||
|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| Baseline, Week 26 |
| Percent Change From Baseline in Muscle Involvement Using Mercuri Scoring at Week 26 | Muscle involvement was assessed by T1-weighted magnetic resonance imaging (MRI). T1-weighted MRI data was analyzed using the Mercuri scoring in both legs (Total score = 1-4; where 1=Normal appearance, 2=Mild involvement, 3=Moderate involvement, and 4=Severe involvement). For each participants, the average for each the upper (thigh) and lower leg was computed for Mercuri grading. | Baseline, Week 26 |
| Percent Change From Baseline in Degree of Fatty Infiltration Using 3-Point 3-Dimensional (3D) Dixon at Week 26 | Degree of Fatty Infiltration was assessed by 3-point 3D Dixon acquisition using skeletal muscle MRI in a subset of participants. | Baseline, Week 26 |
| Percent Change From Baseline in Disease Activity Using T2 Magnetic Resonance Imaging (MRI) at Week 26 | Disease activity (inflammation and/or water content within muscles) was quantitatively assessed by T2 MRI values in a subset of participants. A T2 MRI value of greater than (>) 39 millisecond (ms) was defined as abnormal. T2 estimation normally requires an additional acquisition for computing the B1 spatial deviation however, can still be estimated if this acquisition is missing. | Baseline, Week 26 |
| Gainesville |
| Florida |
| United States |
| Kansas City | Kansas | United States |
| St Louis | Missouri | United States |
| New York | New York | United States |
| Durham | North Carolina | United States |
| Colombus | Ohio | United States |
| Heshey | Pennsylvania | United States |
| Fairfax | Virginia | United States |
| Mainz | Germany |
| München | Germany |
| Münster | Germany |
| Rotterdam | Netherlands |
| Newcastle upon Tyne | United Kingdom |
| Salford | United Kingdom |
| Full Analysis Set (FAS) |
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| COMPLETED |
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| NOT COMPLETED |
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FAS population included all participants who received at least one complete infusion of alglucosidase alfa.
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| ID | Title | Description |
|---|---|---|
| BG000 | Alglucosidase Alfa | Alglucosidase alfa intravenous infusion 20 milligram per kilogram (mg/kg) every other week for 24 weeks. |
| Units | Counts |
|---|---|
| Participants |
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| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age, Continuous | Mean | Standard Deviation | years |
| |||||||||||||||||
| Sex: Female, Male | Count of Participants | Participants |
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| 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 | Change From Baseline in Tissue Glycogen Content in Quadriceps Muscle Biopsy Samples at Week 26 | Tissue glycogen content was measured by quadriceps biopsies as 'percent area of tissue occupied by glycogen'. | FAS population included all participants who received at least one complete infusion of alglucosidase alfa. Here, n = number of participants with both Baseline and Week 26 assessment of tissue glycogen content. | Posted | Mean | Standard Deviation | percent area occupied by glycogen | Baseline, Week 26 |
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| Secondary | Glycogen Distribution | No quantitative data could be reported for this outcome as the assessment was qualitative in nature. | Posted | Baseline, Week 26 |
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| Secondary | Muscle Fiber Morphology | No quantitative data could be reported for this outcome as the assessment was qualitative in nature. | Posted | Baseline, Week 26 |
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| Secondary | Lysosomal Inclusions | No quantitative data could be reported for this outcome as the assessment was qualitative in nature. | Posted | Baseline, Week 26 |
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| Secondary | Percent Change From Baseline in Muscle Involvement Using Mercuri Scoring at Week 26 | Muscle involvement was assessed by T1-weighted magnetic resonance imaging (MRI). T1-weighted MRI data was analyzed using the Mercuri scoring in both legs (Total score = 1-4; where 1=Normal appearance, 2=Mild involvement, 3=Moderate involvement, and 4=Severe involvement). For each participants, the average for each the upper (thigh) and lower leg was computed for Mercuri grading. | FAS population included all participants who received at least one complete infusion of alglucosidase alfa. Here, Number of participants analyzed= participants with both Baseline and Week 26 assessment of muscle involvement, n= number of participants with both Baseline and Week 26 assessment of muscle involvement for specified category. | Posted | Mean | Standard Deviation | percent change | Baseline, Week 26 |
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| Secondary | Percent Change From Baseline in Degree of Fatty Infiltration Using 3-Point 3-Dimensional (3D) Dixon at Week 26 | Degree of Fatty Infiltration was assessed by 3-point 3D Dixon acquisition using skeletal muscle MRI in a subset of participants. | FAS population included all participants who received at least one complete infusion of alglucosidase alfa. Here, number of participants analyzed = number of participants with both Baseline and Week 26 assessment of degree of fatty infiltration. | Posted | Mean | Standard Deviation | percent change | Baseline, Week 26 |
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| Secondary | Percent Change From Baseline in Disease Activity Using T2 Magnetic Resonance Imaging (MRI) at Week 26 | Disease activity (inflammation and/or water content within muscles) was quantitatively assessed by T2 MRI values in a subset of participants. A T2 MRI value of greater than (>) 39 millisecond (ms) was defined as abnormal. T2 estimation normally requires an additional acquisition for computing the B1 spatial deviation however, can still be estimated if this acquisition is missing. | FAS population included all participants who received at least one complete infusion of alglucosidase alfa. Here Number of participants analyzed = number of participants with both baseline and Week 26 assessment of disease activity. | Posted | Mean | Standard Deviation | percent change | Baseline, Week 26 |
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From signature of the informed consent form up to the final visit (Week 26)
In the event a single participant has experienced both serious and non-serious form of the same adverse event (AE), individual has been included in numerator of both AE tables. Analysis was performed on the safety population: all participant who received any amount of alglucosidase alfa. AEs are listed independent of relationship to treatment.
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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 | Alglucosidase Alfa | Alglucosidase alfa intravenous infusion 20 milligram per kilogram (mg/kg) every other week for 24 weeks. | 1 | 16 | 15 | 16 |
| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Retinal vascular thrombosis | Eye disorders | MedDRA 16.1 | Systematic Assessment |
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| Term | Organ System | Source Vocabulary | Assessment Type | Notes | Statistical Information |
|---|---|---|---|---|---|
| Bradycardia | Cardiac disorders | MedDRA 16.1 | Systematic Assessment |
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| Deafness | Ear and labyrinth disorders | MedDRA 16.1 | Systematic Assessment |
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| Tympanic membrane perforation | Ear and labyrinth disorders | MedDRA 16.1 | Systematic Assessment |
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| Ocular hyperaemia | Eye disorders | MedDRA 16.1 | Systematic Assessment |
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| Abdominal discomfort | Gastrointestinal disorders | MedDRA 16.1 | Systematic Assessment |
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| Diarrhoea | Gastrointestinal disorders | MedDRA 16.1 | Systematic Assessment |
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| Nausea | Gastrointestinal disorders | MedDRA 16.1 | Systematic Assessment |
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| Vomiting | Gastrointestinal disorders | MedDRA 16.1 | Systematic Assessment |
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| Adverse drug reaction | General disorders | MedDRA 16.1 | Systematic Assessment |
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| Fatigue | General disorders | MedDRA 16.1 | Systematic Assessment |
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| Feeling cold | General disorders | MedDRA 16.1 | Systematic Assessment |
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| Influenza like illness | General disorders | MedDRA 16.1 | Systematic Assessment |
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| Injection site extravasation | General disorders | MedDRA 16.1 | Systematic Assessment |
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| Malaise | General disorders | MedDRA 16.1 | Systematic Assessment |
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| Bronchitis | Infections and infestations | MedDRA 16.1 | Systematic Assessment |
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| Ear infection | Infections and infestations | MedDRA 16.1 | Systematic Assessment |
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| Nasopharyngitis | Infections and infestations | MedDRA 16.1 | Systematic Assessment |
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| Rhinitis | Infections and infestations | MedDRA 16.1 | Systematic Assessment |
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| Subcutaneous abscess | Infections and infestations | MedDRA 16.1 | Systematic Assessment |
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| Upper respiratory tract infection | Infections and infestations | MedDRA 16.1 | Systematic Assessment |
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| Arthropod bite | Injury, poisoning and procedural complications | MedDRA 16.1 | Systematic Assessment |
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| Ligament sprain | Injury, poisoning and procedural complications | MedDRA 16.1 | Systematic Assessment |
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| Procedural pain | Injury, poisoning and procedural complications | MedDRA 16.1 | Systematic Assessment |
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| Heart rate increased | Investigations | MedDRA 16.1 | Systematic Assessment |
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| Arthralgia | Musculoskeletal and connective tissue disorders | MedDRA 16.1 | Systematic Assessment |
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| Back pain | Musculoskeletal and connective tissue disorders | MedDRA 16.1 | Systematic Assessment |
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| Muscle spasms | Musculoskeletal and connective tissue disorders | MedDRA 16.1 | Systematic Assessment |
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| Myalgia | Musculoskeletal and connective tissue disorders | MedDRA 16.1 | Systematic Assessment |
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| Melanocytic naevus | Neoplasms benign, malignant and unspecified (incl cysts and polyps) | MedDRA 16.1 | Systematic Assessment |
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| Dizziness | Nervous system disorders | MedDRA 16.1 | Systematic Assessment |
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| Headache | Nervous system disorders | MedDRA 16.1 | Systematic Assessment |
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| Muscle contractions involuntary | Nervous system disorders | MedDRA 16.1 | Systematic Assessment |
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| Paraesthesia | Nervous system disorders | MedDRA 16.1 | Systematic Assessment |
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| Sciatica | Nervous system disorders | MedDRA 16.1 | Systematic Assessment |
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| Insomnia | Psychiatric disorders | MedDRA 16.1 | Systematic Assessment |
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| Epididymitis | Reproductive system and breast disorders | MedDRA 16.1 | Systematic Assessment |
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| Dyspnoea | Respiratory, thoracic and mediastinal disorders | MedDRA 16.1 | Systematic Assessment |
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| Nasal congestion | Respiratory, thoracic and mediastinal disorders | MedDRA 16.1 | Systematic Assessment |
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| Oropharyngeal pain | Respiratory, thoracic and mediastinal disorders | MedDRA 16.1 | Systematic Assessment |
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| Pharyngeal oedema | Respiratory, thoracic and mediastinal disorders | MedDRA 16.1 | Systematic Assessment |
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| Tachypnoea | Respiratory, thoracic and mediastinal disorders | MedDRA 16.1 | Systematic Assessment |
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| Dry skin | Skin and subcutaneous tissue disorders | MedDRA 16.1 | Systematic Assessment |
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| Rash | Skin and subcutaneous tissue disorders | MedDRA 16.1 | Systematic Assessment |
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| Urticaria | Skin and subcutaneous tissue disorders | MedDRA 16.1 | Systematic Assessment |
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| Flushing | Vascular disorders | MedDRA 16.1 | Systematic Assessment |
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| Hypotension | Vascular disorders | MedDRA 16.1 | Systematic Assessment |
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| Peripheral coldness | Vascular disorders | MedDRA 16.1 | Systematic Assessment |
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| Thrombosis | Vascular disorders | MedDRA 16.1 | Systematic Assessment |
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If no publication has occurred within 12 months of the completion of the study, the Investigator shall have the right to publish/present independently the results of the study. The Investigator shall provide the Sponsor with a copy of any such presentation/publication for comment at least 30 days before any presentation/submission for publication. If requested by the Sponsor, any presentation/submission shall be delayed up to 90 days, to allow the Sponsor to preserve its proprietary rights.
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Trial Transparency Team | Sanofi | Contact-us@sanofi.com |
| 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 |
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| ID | Term |
|---|---|
| C509951 | GAA protein, human |
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