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This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Pompe Registry, regardless of whether she is receiving disease-specific therapy (such as ERT with alglucosidase alfa or avalglucosidase alfa) and irrespective of the commercial product with which she may be treated. No experimental intervention is given; thus a patient will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician.
The primary objective of this Sub-registry is to track pregnancy outcomes, including complications and infant growth, in all women with Pompe disease during pregnancy, regardless of whether they receive disease-specific therapy, such as ERT with alglucosidase alfa or avalglucosidase alfa.
Study Design Time Perspective: Retrospective and Prospective
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Pregnant women with confirmed diagnosis of Pompe Disease | No experimental intervention is given. Pregnant women with confirmed diagnosis of Pompe disease that are participating in the Pompe Registry (NCT00231400) and consented to participate in the Pompe Pregnancy Sub-registry, regardless of whether she is receiving disease-specific therapy (such as ERT with alglusidase alfa or avalglucosidase alfa) and irrespective of the commercial product with which she may be treated. | ||
| Pregnant women receiving no treatment for Pompe disease | Pregnant women with Pompe disease enrolled in the Pompe disease registry (NCT00231400) who are not receiving treatment | ||
| Infants born to mothers receiving treatment for Pompe disease | The infants of mothers with Pompe disease enrolled in the Pompe disease registry (NCT00231400) where the mothers are receiving treatment of alglucosidase alfa (Myozyme/Lumizyme) or avalglucosidase alfa (Nexviadyme/Nexviazyme) | ||
| Infants born to mothers receiving no treatment for Pompe disease | The infants of mothers with Pompe disease enrolled in the Pompe Disease Registry (NCT00231400) where the mothers are not receiving Treatment |
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| Measure | Description | Time Frame |
|---|---|---|
| Pregnancy outcomes, including complications and infant growth, in all women with Pompe disease during pregnancy, regardless of whether they receive disease-specific therapy such as ERT with alglucosidase alfa or avalglucosidase alfa | 10 Months | |
| Follow-up of infants born to women with Pompe disease for 3 years post-partum | 3 years |
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Inclusion Criteria:
Eligible women must:
Note: It is recommended that pregnancy data be collected on eligible women regardless of infant enrollment. In the event of patients having multiple pregnancies, participation in this Sub-Registry is encouraged for each individual pregnancy.
Exclusion Criteria:
There are no exclusion criteria for this Sub-Registry
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Pregnant Females with Pompe disease and/or infants born to females with Pompe disease. Participants may or may not be receiving therapy
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Trial Transparency email recommended (Toll free number for US & Canada) | Contact | 800-633-1610 | option 6 | Contact-us@sanofi.com |
| Pompe Registry HelpLine | Contact | 617-591-5500 |
| Name | Affiliation | Role |
|---|---|---|
| Study Director | Genzyme, a Sanofi Company | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Barrow Neurol Group- Site Number : 840087 | Recruiting | Phoenix | Arizona | 85013 | United States | |
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| University of Florida Pediatrics Genetics- Site Number : 157138 |
| Recruiting |
| Jacksonville |
| Florida |
| 32207 |
| United States |
| Emory University School Of Medicine- Site Number : 840060 | Recruiting | Atlanta | Georgia | 30322 | United States |
| Indianapolis University School of Medicine- Site Number : 840027 | Recruiting | Indianapolis | Indiana | 46202 | United States |
| University of Iowa- Site Number : 150294 | Recruiting | Iowa City | Iowa | 52242-1009 | United States |
| Spectrum for Health- Site Number : 840019 | Recruiting | Grand Rapids | Michigan | 49503 | United States |
| Washington University- Site Number : 150612 | Recruiting | St Louis | Missouri | 63110 | United States |
| New York University School Of Medicine- Site Number : 840040 | Recruiting | New York | New York | 10016 | United States |
| Mt. Sinai School of Medicine- Site Number : 840005 | Recruiting | New York | New York | 10029 | United States |
| Columbia University Irving Medical Center- Site Number : 157199 | Recruiting | New York | New York | 10032 | United States |
| Duke University Medical Center Genetics Dept- Site Number : 840037 | Recruiting | Durham | North Carolina | 27710 | United States |
| LSD Data Registry Site LLC- Site Number : 840094 | Recruiting | Dublin | Ohio | 43017 | United States |
| Oregon Health and Science University- Site Number : 840095 | Completed | Portland | Oregon | 97239 | United States |
| Greenwood Genetic Center - Greenville- Site Number : 151184 | Recruiting | Greenville | South Carolina | 29605 | United States |
| O & O Alpan- Site Number : 840025 | Recruiting | Fairfax | Virginia | 22030 | United States |
| Investigational Site Number : 151069 | Recruiting | Westmead | New South Wales | 2145 | Australia |
| Investigational Site Number : 056001 | Recruiting | Ghent | 9000 | Belgium |
| Instituto de Genética e Erros Inatos do Metabolismo- Site Number : 150978 | Recruiting | São Paulo | 04020-041 | Brazil |
| Investigational Site Number : 1910001 | Recruiting | Zagreb | 10000 | Croatia |
| Investigational Site Number : 1910002 | Recruiting | Zagreb | 10000 | Croatia |
| Investigational Site Number : 2030001 | Recruiting | Prague | 128 08 | Czechia |
| Investigational Site Number : 152200 | Recruiting | Bonn | 53127 | Germany |
| Investigational Site Number : 380005 | Recruiting | Florence | Firenze | 50139 | Italy |
| Investigational Site Number : 380007 | Recruiting | Milan | Milano | 20133 | Italy |
| Investigational Site Number : 380011 | Recruiting | Padua | Padova | 35128 | Italy |
| Investigational Site Number : 380015 | Recruiting | Rome | Roma | 00165 | Italy |
| Investigational Site Number : 380008 | Recruiting | Brescia | 25123 | Italy |
| Investigational Site Number : 380006 | Recruiting | Cagliari | 09126 | Italy |
| Investigational Site Number : 380004 | Recruiting | Genova | 16147 | Italy |
| Investigational Site Number : 380013 | Recruiting | Messina | 98125 | Italy |
| Investigational Site Number : 380009 | Recruiting | Monza | Italy |
| Investigational Site Number : 380002 | Recruiting | Padova | 35128 | Italy |
| Investigational Site Number : 380003 | Recruiting | Pavia | 27100 | Italy |
| Investigational Site Number : 380012 | Recruiting | Roma | Italy |
| Investigational Site Number : 87147 | Recruiting | Cardiff | Cardiff [Caerdydd Gb-crd] | CF14 4XW | United Kingdom |
| 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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