Pompe Disease Clinical Trial
Official title:
Pompe Disease Registry
The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes. The objectives of the Registry are: - To enhance understanding of the variability, progression, identification, and natural history of Pompe disease, with the ultimate goal of better guiding and assessing therapeutic intervention. - To assist the Pompe medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care. - To characterize the Pompe disease population. - To evaluate the long-term effectiveness of alglucosidase alfa.
| Status | Recruiting |
| Enrollment | 2000 |
| Est. completion date | January 31, 2034 |
| Est. primary completion date | January 31, 2034 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | N/A and older |
| Eligibility | Inclusion Criteria: All patients with a confirmed diagnosis of Pompe disease who have signed the informed consent and authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations. Exclusion Criteria: There are no exclusion criteria in this Registry |
| Country | Name | City | State |
|---|---|---|---|
| Argentina | Investigational Site Number : 152218 | Caba | Buenos Aires |
| Argentina | Investigational Site Number : 153194 | Caba | Buenos Aires |
| Argentina | Investigational Site Number : 153032 | Ciudad Autónoma de Buenos Aires | Buenos Aires |
| Australia | Investigational Site Number : 151002 | Adelaide | South Australia |
| Australia | Investigational Site Number : 154087 | Herston | Queensland |
| Australia | Investigational Site Number : 151015 | Murdoch | Western Australia |
| Australia | Investigational Site Number : 036013 | Westmead | New South Wales |
| Australia | Investigational Site Number : 151069 | Westmead | New South Wales |
| Belgium | Investigational Site Number : 150722 | Antwerpen | |
| Belgium | Investigational Site Number : 154298 | Brugge | |
| Belgium | Investigational Site Number : 056010 | Bruxelles | |
| Belgium | Investigational Site Number : 150684 | Bruxelles | |
| Belgium | Investigational Site Number : 152072 | Edegem | |
| Belgium | Investigational Site Number : 152295 | Gent | |
| Belgium | Investigational Site Number : 153179 | Gosselies | |
| Belgium | Investigational Site Number : 151668 | Leuven | |
| Belgium | Investigational Site Number : 152126 | Leuven | |
| Brazil | Hospital Universitario Walter Cantidio - UFC Site Number : 076011 | Fortaleza | Ceará |
| Brazil | Hospital De Clinicas De Porto Alegre Site Number : 076008 | Porto Alegre | Rio Grande Do Sul |
| Brazil | Faculdade de Medicina de Ribeirao Preto - USP Site Number : 076009 | Ribeirao Preto | São Paulo |
| Brazil | Instituto Fernandes Figueira - FIOCRUZ Site Number : 076001 | Rio de Janeiro | |
| Brazil | Hospital das Clínicas da Faculdade de Medicina da USP Site Number : 076004 | São Paulo | |
| Brazil | Hospital das Clínicas da Faculdade de Medicina da USP Site Number : 076007 | São Paulo | |
| Brazil | Instituto de Genética e Erros Inatos do Metabolismo - IGEIM Site Number : 076002 | São Paulo | |
| Brazil | Núcleo de Gestão em Pesquisa (NGP) - UNIFESP Site Number : 076012 | São Paulo | |
| Bulgaria | Investigational Site Number : 100001 | Sofia | |
| Canada | Investigational Site Number : 124022 | Moncton | New Brunswick |
| Canada | Investigational Site Number : 124004 | Montreal | Quebec |
| Chile | Investigational Site Number : 152002 | Punta Arenas | |
| Chile | Investigational Site Number : 152001 | Santiago | |
| China | Investigational Site Number : 153203 | Beijing | |
| Colombia | Investigational Site Number : 170001 | Bogota | |
| Croatia | Investigational Site Number : 1910001 | Zagreb | |
| Croatia | Investigational Site Number : 1910002 | Zagreb | |
| Denmark | Investigational Site Number : 151229 | København Ø | |
| France | Investigational Site Number : 250010 | Bordeaux | |
| France | Investigational Site Number : 250012 | Brest | |
| France | Investigational Site Number : 250003 | BRON Cedex | |
| France | Investigational Site Number : 250007 | BRON Cedex | |
| France | Investigational Site Number : 250009 | Caen | |
| France | Investigational Site Number : 250015 | GRENOBLE cedex | |
| France | Investigational Site Number : 250008 | Lille Cedex | |
| France | Investigational Site Number : 250002 | Marseille Cedex 05 | |
| France | Investigational Site Number : 250017 | NANCY Cedex | |
| France | Investigational Site Number : 250019 | NANTES Cedex 1 | |
| France | Investigational Site Number : 250005 | Nice cedex 1 | |
| France | Investigational Site Number : 250011 | NIMES Cedex 9 | |
| France | Investigational Site Number : 250004 | Paris | |
| France | Investigational Site Number : 250001 | PARIS Cedex 13 | |
| France | Investigational Site Number : 250018 | St Etienne | |
| France | Investigational Site Number : 250016 | Strasbourg Cedex 2 | |
| France | Investigational Site Number : 250014 | Toulouse | |
| France | Investigational Site Number : 250006 | Tours | |
| France | Investigational Site Number : 25013 | Vannes Cedex | |
| Germany | Investigational Site Number : 154150 | Gießen | |
| Germany | Investigational Site Number : 154215 | Hamburg | |
| Greece | Investigational Site Number : 300001 | Thessaloniki | |
| Hong Kong | Investigational Site Number : 344001 | Kowloon | |
| Hungary | Investigational Site Number : 3480009 | Debrecen | |
| Hungary | Investigational Site Number : 3480007 | Nyíregyháza | |
| Hungary | Investigational Site Number : 3480011 | Pécs | |
| Hungary | Investigational Site Number : 3480012 | Székesfehérvár | |
| India | Investigational Site Number : 356003 | Ahmedabad | |
| India | Investigational Site Number : 356001 | Kolkata | |
| India | Investigational Site Number : 3560004 | Secunderabad | |
| India | Investigational Site Number : 356002 | Vellore | |
| Indonesia | Investigational Site Number : 360001 | Jakarta | |
| Israel | Investigational Site Number : 3760003 | Tel Aviv | |
| Italy | Investigational Site Number : 380008 | Brescia | |
| Italy | Investigational Site Number : 380006 | Cagliari | |
| Italy | Investigational Site Number : 380014 | Ferrara | |
| Italy | Investigational Site Number : 380005 | Firenze | |
| Italy | Investigational Site Number : 380004 | Genova | |
| Italy | Investigational Site Number : 380013 | Messina | |
| Italy | Investigational Site Number : 380007 | Milano | |
| Italy | Investigational Site Number : 380016 | Milano | |
| Italy | Investigational Site Number : 380009 | Monza | |
| Italy | Investigational Site Number : 380010 | Napoli | |
| Italy | Investigational Site Number : 380019 | Napoli | |
| Italy | Investigational Site Number : 380002 | Padova | |
| Italy | Investigational Site Number : 380011 | Padova | |
| Italy | Investigational Site Number : 380003 | Pavia | |
| Italy | Investigational Site Number : 380012 | Roma | |
| Italy | Investigational Site Number : 380015 | Roma | |
| Italy | Investigational Site Number : 380017 | Torino | |
| Italy | Investigational Site Number : 380001 | Udine | |
| Japan | Investigational Site Number : 392105 | Ginowan | Okinawa |
| Japan | Investigational Site Number : 392106 | Sakyo-ku | Kyoto |
| Jordan | Investigational Site Number : 4000001 | Amman | |
| Korea, Republic of | Investigational Site Number : 153191 | Daejeon | |
| Korea, Republic of | Investigational Site Number : 153225 | Jeonnam | |
| Korea, Republic of | Investigational Site Number : 151149 | Seoul | |
| Korea, Republic of | Investigational Site Number : 153176 | Seoul | |
| Korea, Republic of | Investigational Site Number : 153180 | Seoul | |
| Korea, Republic of | Investigational Site Number : 153192 | Seoul | |
| Korea, Republic of | Investigational Site Number : 153196 | Seoul | |
| Korea, Republic of | Investigational Site Number : 153212 | Seoul | |
| Korea, Republic of | Investigational Site Number : 153222 | Seoul | |
| Korea, Republic of | Investigational Site Number : 154148 | Yangsan | |
| Korea, Republic of | Investigational Site Number : 153178 | Yangsan-si | Gyeongsangnam-do |
| Kuwait | Investigational Site Number : 154225 | Kuwait | |
| Lebanon | Investigational Site Number : 4220004 | Beirut | |
| Lebanon | Investigational Site Number : 4220002 | Hazmieh | |
| Malaysia | Investigational Site Number : 458001 | Jalan Pahang | |
| Malaysia | Investigational Site Number : 458002 | Lembah Pantai | |
| Netherlands | Investigational Site Number : 152029 | Rotterdam | |
| Pakistan | Investigational Site Number : 154264 | Karachi | |
| Pakistan | Investigational Site Number : 154266 | Lahore | |
| Philippines | Investigational Site Number : 608001 | Manila | |
| Poland | Investigational Site Number : 150575 | Warszawa | |
| Portugal | Investigational Site Number : 620008 | Coimbra | |
| Portugal | Investigational Site Number : 620006 | Lisboa | |
| Romania | Investigational Site Number : 154099 | Bucuresti | |
| Russian Federation | Investigational Site Number : 643002 | Moscow | |
| Saudi Arabia | Investigational Site Number : 682004 | Makkah | |
| Saudi Arabia | Investigational Site Number : 682001 | Qatif | |
| Serbia | Investigational Site Number : 6880001 | Belgrade | |
| Singapore | Investigational Site Number : 702001 | Singapore | |
| Slovakia | Investigational Site Number : 703001 | Bratislava | |
| Taiwan | Investigational Site Number : 154093 | Chiayi | |
| Taiwan | Investigational Site Number : 152152 | Hualien | |
| Taiwan | Investigational Site Number : 152244 | Kaohsiung | |
| Taiwan | Investigational Site Number : 152246 | Kaohsiung Hsien, | |
| Taiwan | Investigational Site Number : 151534 | New Taipei City | |
| Taiwan | Investigational Site Number : 151500 | Putz City, Chia-yi | |
| Taiwan | Investigational Site Number : 151181 | Taichung | |
| Taiwan | Investigational Site Number : 151179 | Taichung City | |
| Taiwan | Investigational Site Number : 152153 | Tainan | |
| Taiwan | Investigational Site Number : 153248 | Tainan | |
| Taiwan | Investigational Site Number : 151182 | Taipei | |
| Taiwan | Investigational Site Number : 152226 | Taipei | |
| Taiwan | Investigational Site Number : 152321 | Taipei | |
| Taiwan | Investigational Site Number : 153158 | Tao Yuan County | |
| Thailand | Investigational Site Number : 764001 | Bangkok | |
| Thailand | Investigational Site Number : 764002 | Bangkok | |
| Thailand | Investigational Site Number : 764003 | Bangkok | |
| Thailand | Investigational Site Number : 764004 | Bangkok | |
| Thailand | Investigational Site Number : 764005 | Khon Kaen | |
| United Kingdom | Investigational Site Number : 152287 | Birmingham | |
| United Kingdom | Investigational Site Number : 154240 | Birmingham | |
| United States | University of Michigan Pediatrics Site Number : 840107 | Ann Arbor | Michigan |
| United States | Children's Hospital IMD Clinic Site Number : 840069 | Aurora | Colorado |
| United States | John Hopkins Site Number : 840044 | Baltimore | Maryland |
| United States | University Alabama at Birmingham Site Number : 840106 | Birmingham | Alabama |
| United States | Boston Children's Hospital Site Number : 840092 | Boston | Massachusetts |
| United States | Massachusetts General Hospital-Genetics Site Number : 840062 | Boston | Massachusetts |
| United States | Carolinas Medical Center Hospital Site Number : 840065 | Charlotte | North Carolina |
| United States | University of Virginia School of Medicine-Pediatrics Site Number : 840078 | Charlottesville | Virginia |
| United States | Ann and Robert Lurie Children's Hospital Site Number : 840011 | Chicago | Illinois |
| United States | Ann and Robert Lurie Children's Hospital Site Number : 840013 | Chicago | Illinois |
| United States | Rush University Medical Center Genetics Site Number : 840079 | Chicago | Illinois |
| United States | Cincinnati Children's Hospital-Genetics Site Number : 840041 | Cincinnati | Ohio |
| United States | Cleveland Clinic Foundation Pediatrics Site Number : 840048 | Cleveland | Ohio |
| United States | UHCMC Site Number : 840119 | Cleveland | Ohio |
| United States | Nationwide Children's Hospital Site Number : 840091 | Columbus | Ohio |
| United States | University of Missouri Health System Department of Genetics Site Number : 840031 | Columibia | Missouri |
| United States | Baylor Research Center Site Number : 840058 | Dallas | Texas |
| United States | Emory University School of Medicine- Human Genetics Site Number : 840060 | Decatur | Georgia |
| United States | LSD Data Registry Site LLC Site Number : 840094 | Dublin | Ohio |
| United States | Duke University Medical Center Genetics Dept Site Number : 840037 | Durham | North Carolina |
| United States | O&O Alpan, LLC Site Number : 840025 | Fairfax | Virginia |
| United States | Cook Children's Health Care System Site Number : 840024 | Fort Worth | Texas |
| United States | University of Florida-Genetics Site Number : 840012 | Gainesville | Florida |
| United States | Infusion Associates Site Number : 840050 | Grand Rapids | Michigan |
| United States | Spectrum for Health Site Number : 840019 | Grand Rapids | Michigan |
| United States | Greenwood Genetcs Site Number : 840055 | Greenville | South Carolina |
| United States | Hackensack University Medical Center Site Number : 840101 | Hackensack | New Jersey |
| United States | Penn Hershey Medical Center Site Number : 840061 | Hershey | Pennsylvania |
| United States | Indianapolis University School of Medicine Site Number : 840027 | Indianapolis | Indiana |
| United States | The Atwal Clinic Site Number : 840112 | Jacksonville | Florida |
| United States | University of Florida Pediatrics Genetics Site Number : 840121 | Jacksonville | Florida |
| United States | Children's Mercy Hospital- Pediatrics Site Number : 840063 | Kansas City | Missouri |
| United States | University Of Kansas Medical Center Site Number : 840020 | Kansas City | Kansas |
| United States | Arkansas Childrens Hospital Site Number : 840109 | Little Rock | Arkansas |
| United States | University of Arkansas for Medical Sciences Site Number : 840113 | Little Rock | Arkansas |
| United States | Loma Linda University- Genetics Site Number : 840070 | Loma Linda | California |
| United States | Southern California Permanente Medical Group Site Number : 840108 | Los Angeles | California |
| United States | University of Louisville- Genetics Site Number : 840030 | Louisville | Kentucky |
| United States | Northwell Health Site Number : 840102 | Manhasset | New York |
| United States | Children's Hospital of Wisconsin-Pediatrics Site Number : 840054 | Milwaukee | Wisconsin |
| United States | Children's Health Care Site Number : 840114 | Minneapolis | Minnesota |
| United States | Children's Hospital and Clinics of Minnesota Site Number : 840046 | Minneapolis | Minnesota |
| United States | Atlantic Health System Site Number : 840099 | Morristown | New Jersey |
| United States | Vanderbilt University Hospital-Pediatrics Site Number : 840049 | Nashville | Tennessee |
| United States | St. Peter's University Hospital Site Number : 840016 | New Brunswick | New Jersey |
| United States | Yale Site Number : 840047 | New Haven | Connecticut |
| United States | Ochsner Medical Center Site Number : 840120 | New Orleans | Louisiana |
| United States | Metropolitan Hospital Center Site Number : 840110 | New York | New York |
| United States | Mt. Sinai School of Medicine Site Number : 840005 | New York | New York |
| United States | New York University School Of Medicine Site Number : 840040 | New York | New York |
| United States | Children's Hospital of the Kings Daughters Site Number : 840072 | Norfolk | Virginia |
| United States | Children's Hospital Oakland Site Number : 840029 | Oakland | California |
| United States | University of Nebraska Medical Center- Pediatrics Site Number : 840084 | Omaha | Nebraska |
| United States | St. Joseph's Children's Hospital Site Number : 840057 | Paterson | New Jersey |
| United States | Children's Hospital of Philadelphia Site Number : 840034 | Philadelphia | Pennsylvania |
| United States | University of Pittsburgh Site Number : 840023 | Pittsburgh | Pennsylvania |
| United States | UPMC Site Number : 840014 | Pittsburgh | Pennsylvania |
| United States | Maine Medical Center Pediatrics Site Number : 840064 | Portland | Maine |
| United States | Oregon Health & Sciences University Site Number : 840080 | Portland | Oregon |
| United States | Rhode Island Hospital Genetics Site Number : 840053 | Providence | Rhode Island |
| United States | University of Rochester Medical Center SOM Site Number : 840105 | Rochester | New York |
| United States | Washington University of St. Louis Site Number : 840100 | Saint Louis | Missouri |
| United States | Loma Linda University Children's Hospital Site Number : 840117 | San Bernardino | California |
| United States | University of California at San Diego Site Number : 840007 | San Diego | California |
| United States | Baystate Health Site Number : 840002 | Springfield | Massachusetts |
| United States | State University of New York Site Number : 840052 | Syracuse | New York |
| United States | Multicare Health System ¿ Mary Bridge Childrens Hospital Site Number : 840115 | Tacoma | Washington |
| United States | University of Florida-Genetics Site Number : 840096 | Tampa | Florida |
| United States | New York Medical College Site Number : 840039 | Valhalla | New York |
| United States | Children's National Medical Center Site Number : 840067 | Washington | District of Columbia |
| Vietnam | Investigational Site Number : 154212 | Hanoi | |
| Vietnam | Investigational Site Number : 704002 | Ho Chi Minh City |
| Lead Sponsor | Collaborator |
|---|---|
| Genzyme, a Sanofi Company |
United States, Vietnam, Argentina, Australia, Belgium, Brazil, Bulgaria, Canada, Chile, China, Colombia, Croatia, Denmark, France, Germany, Greece, Hong Kong, Hungary, India, Indonesia, Israel, Italy, Japan, Jordan, Korea, Republic of, Kuwait, Lebanon, Malaysia, Netherlands, Pakistan, Philippines, Poland, Portugal, Romania, Russian Federation, Saudi Arabia, Serbia, Singapore, Slovakia, Taiwan, Thailand, United Kingdom,
Byrne BJ, Kishnani PS, Case LE, Merlini L, Muller-Felber W, Prasad S, van der Ploeg A. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011 May;103(1):1-11. doi: 10.1016/j.ymgme.2011.02.004. Epub 2011 Feb 11. Erratum In: Mol Genet Metab. 2011 Nov;104(3):424. — View Citation
Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry. Mol Genet Metab. 2014 Sep-Oct;113(1-2):84-91. doi: 10.1016/j.ymgme.2014.07.014. Epub 2014 Jul 16. — View Citation
Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J; Pompe Registry Boards of Advisors. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013 Oct;161A(10):2431-43. doi: 10.1002/ajmg.a.36110. Epub 2013 Aug 30. — View Citation
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|---|---|---|---|---|
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