Pompe Disease Registry Protocol
1 other identifier
observational
2,000
44 countries
272
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Sep 2004
Longer than P75 for all trials
272 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
September 15, 2004
CompletedFirst Submitted
Initial submission to the registry
September 30, 2005
CompletedFirst Posted
Study publicly available on registry
October 4, 2005
CompletedPrimary Completion
Last participant's last visit for primary outcome
January 31, 2034
ExpectedStudy Completion
Last participant's last visit for all outcomes
January 31, 2034
April 28, 2026
April 1, 2026
29.4 years
September 30, 2005
April 27, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease
maximum 30 years
Eligibility Criteria
All patients with a confirmed diagnosis of Pompe disease are eligible for inclusion in the Registry.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (272)
University of Alabama at Birmingham- Site Number : 840106
Birmingham, Alabama, 35233, United States
Barrow Neurological Institute- Site Number : 840087
Phoenix, Arizona, 85013, United States
Phoenix Children's Hospital- Site Number : 840003
Phoenix, Arizona, 85016, United States
University of Arizona- Site Number : 840015
Tucson, Arizona, 85724, United States
Arkansas Children's Hospital- Site Number : 840109
Little Rock, Arkansas, 72202, United States
University of Arkansas for Medical Sciences- Site Number : 840113
Little Rock, Arkansas, 72205, United States
University of California at Irvine- Site Number : 840036
Irvine, California, 90211, United States
Loma Linda University- Genetics- Site Number : 840070
Loma Linda, California, 92354, United States
Southern California Permanente Medical Group- Site Number : 840108
Los Angeles, California, 90027, United States
USC Health Sciences Center Dept of Genetics- Site Number : 840082
Los Angeles, California, 90033, United States
UCSF Benioff Children's Hospital - Oakland- Site Number : 840029
Oakland, California, 94609, United States
Children's Hospital of Orange County- Site Number : 840074
Orange, California, 92868, United States
UC Davis MIND Institute- Site Number : 840010
Sacramento, California, 95817, United States
University of California at San Diego- Site Number : 840007
San Diego, California, 92093, United States
University of California San Francisco - Parnassus Campus- Site Number : 840051
San Francisco, California, 94143, United States
Stanford University Pediatrics- Site Number : 840021
Stanford, California, 94305, United States
Children's Hospital Colorado - Aurora- Site Number : 840069
Aurora, Colorado, 80045, United States
Yale University School of Medicine- Site Number : 840047
New Haven, Connecticut, 06510, United States
Children's National Medical Center - Washington- Site Number : 840067
Washington D.C., District of Columbia, 20010, United States
University of Florida College of Medicine- Site Number : 840012
Gainesville, Florida, 32610, United States
University of Florida Pediatrics Genetics- Site Number : 840121
Jacksonville, Florida, 32207, United States
University Of Miami SOM- Site Number : 840006
Miami, Florida, 33136, United States
University of Florida-Genetics- Site Number : 840096
Tampa, Florida, 33606, United States
Emory University School of Medicine- Human Genetics- Site Number : 840060
Decatur, Georgia, 30033, United States
University of Colorado at Denver Genetics- Site Number : 840068
Aurora, Illinois, 80045, United States
Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011
Chicago, Illinois, 60611, United States
Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840013
Chicago, Illinois, 60611, United States
Rush University Medical Center Genetics- Site Number : 840079
Chicago, Illinois, 60612, United States
Indianapolis University School of Medicine- Site Number : 840027
Indianapolis, Indiana, 46202, United States
University of Iowa- Site Number : 840032
Iowa City, Iowa, 52242, United States
University Of Kansas Medical Center- Site Number : 840020
Kansas City, Kansas, 66160, United States
University of Louisville - Health Sciences Center- Site Number : 840030
Louisville, Kentucky, 40202, United States
Maine Medical Partners Pediatric Specialty Care- Site Number : 840064
Portland, Maine, 04102, United States
John Hopkins- Site Number : 840044
Baltimore, Maryland, 21205, United States
Massachusetts General Hospital-Genetics- Site Number : 840062
Boston, Massachusetts, 02114, United States
Boston Children's Hospital - PIN- Site Number : 840092
Boston, Massachusetts, 02115, United States
Baystate Medical Center- Site Number : 840002
Springfield, Massachusetts, 01199, United States
University of Michigan Pediatrics- Site Number : 840107
Ann Arbor, Michigan, 48109, United States
Children's Hospital of Michigan- Site Number : 840066
Detroit, Michigan, 48201, United States
Corewell Health - Helen DeVos Children's Hospital (HDVCH)- Site Number : 840019
Grand Rapids, Michigan, 49503, United States
Infusion Associates - Grand Rapids- Site Number : 840050
Grand Rapids, Michigan, 49525, United States
Children's Hospitals and Clinics of Minnesota- Site Number : 840046
Minneapolis, Minnesota, 55404, United States
Children's Hospitals and Clinics of Minnesota- Site Number : 840114
Minneapolis, Minnesota, 55404, United States
M Health Fairview University of Minnesota Medical Center - West Bank- Site Number : 840035
Minneapolis, Minnesota, 55454, United States
M Health Fairview University of Minnesota Medical Center - West Bank- Site Number : 840076
Minneapolis, Minnesota, 55454, United States
University of Missouri Health System Department of Genetics- Site Number : 840031
Columbia, Missouri, 65212, United States
Children's Mercy Adelle Hall Campus- Site Number : 840063
Kansas City, Missouri, 64108, United States
Washington University- Site Number : 840100
St Louis, Missouri, 63110, United States
University of Nebraska Medical Center- Site Number : 840084
Omaha, Nebraska, 68198, United States
Children's Specialty Center - Las Vegas- Site Number : 840008
Las Vegas, Nevada, 89109, United States
Cooper Health Center- Site Number : 840098
Camden, New Jersey, 08103, United States
Hackensack Meridian Health - Hackensack University Medical Center- Site Number : 840101
Hackensack, New Jersey, 07601, United States
Atlantic Health System- Site Number : 840099
Morristown, New Jersey, 07962, United States
Saint Peter's University Hospital - New Brunswick- Site Number : 840016
New Brunswick, New Jersey, 08901, United States
St. Joseph's Children's Hospital- Site Number : 840057
Paterson, New Jersey, 07503, United States
NYU Langone Health - Perlmutter Cancer Center - Huntington- Site Number : 840040
Huntington, New York, 11743, United States
Northwell Health- Site Number : 840102
New Hyde Park, New York, 11042, United States
Metropolitan Hospital Center- Site Number : 840110
New York, New York, 10029, United States
Mt. Sinai School of Medicine- Site Number : 840005
New York, New York, 10029, United States
Columbia University Irving Medical Center- Site Number : 840125
New York, New York, 10032, United States
University of Rochester Medical Center- Site Number : 840105
Rochester, New York, 14642, United States
SUNY Upstate Medical University - Site Number : 840052
Syracuse, New York, 13210, United States
New York Medical College- Site Number : 840039
Valhalla, New York, 10595, United States
Carolinas Medical Center Hospital- Site Number : 840065
Charlotte, North Carolina, 28232, United States
Duke University Medical Center Genetics Dept- Site Number : 840037
Durham, North Carolina, 27710, United States
University of Cincinnati Medical Center- Site Number : 840124
Cincinnati, Ohio, 45219, United States
Cincinnati Children's Hospital Medical Center (Cincinnati Children's Hospital)- Site Number : 840041
Cincinnati, Ohio, 45229, United States
University Hospitals Cleveland Medical Center- Site Number : 840119
Cleveland, Ohio, 44106, United States
Cleveland Clinic - Cleveland- Site Number : 840048
Cleveland, Ohio, 44195, United States
Nationwide Children's Hospital- Site Number : 840091
Columbus, Ohio, 43205, United States
LSD Data Registry Site LLC- Site Number : 840094
Dublin, Ohio, 43017, United States
Oregon Health & Science University (OHSU)- Site Number : 840080
Portland, Oregon, 97239, United States
Oregon Health & Science University (OHSU)- Site Number : 840095
Portland, Oregon, 97239, United States
Oregon Health and Scinece University- Site Number : 840038
Portland, Oregon, 97239, United States
Penn Hershey Medical Center- Site Number : 840061
Hershey, Pennsylvania, 17033, United States
Penn State Health Milton South Hershey Medical Center- Site Number : 840126
Hershey, Pennsylvania, 17033, United States
Children's Hospital of Philadelphia HUP Medical Genetics- Site Number : 840089
Philadelphia, Pennsylvania, 19104, United States
Children's Hospital of Philadelphia- Site Number : 840034
Philadelphia, Pennsylvania, 19104, United States
UPMC Children's Hospital of Pittsburgh- Site Number : 840014
Pittsburgh, Pennsylvania, 15224, United States
UPMC Children's Hospital of Pittsburgh- Site Number : 840023
Pittsburgh, Pennsylvania, 15224, United States
Rhode Island Hospital Genetics- Site Number : 840053
Providence, Rhode Island, 02903, United States
Greenwood Genetic Center - Greenville- Site Number : 840055
Greenville, South Carolina, 29605, United States
Vanderbilt University Medical Center Diagnostic Lab- Site Number : 840049
Nashville, Tennessee, 37212, United States
Baylor Institute of Metabolic Disease- Site Number : 840058
Dallas, Texas, 75226, United States
Cook Children's Health Care System- Site Number : 840024
Fort Worth, Texas, 76104, United States
University of Utah Department of Medical Genetics- Site Number : 840043
Salt Lake City, Utah, 84132, United States
University of Virginia School of Medicine-Pediatrics- Site Number : 840078
Charlottesville, Virginia, 22908, United States
O & O Alpan- Site Number : 840025
Fairfax, Virginia, 22030, United States
Children's Hospital of The King's Daughters- Site Number : 840072
Norfolk, Virginia, 23507, United States
Seattle Children's Hospital- Site Number : 840028
Seattle, Washington, 98105, United States
University Of Washington Medical Center- Site Number : 840059
Seattle, Washington, 98195, United States
Mary Bridge Children's Hospital & Health Center- Site Number : 840115
Tacoma, Washington, 98405, United States
Children's Hospital of Wisconsin-Pediatrics- Site Number : 840054
Milwaukee, Wisconsin, 53226, United States
Investigational Site Number : 153195
Caba, Buenos Aires, Buenos Aires, C1415EKV, Argentina
Investigational Site Number : 152218
CABA, Buenos Aires, 1424, Argentina
Investigational Site Number : 153194
Buenos Aires, 1181, Argentina
Investigational Site Number : 153032
Buenos Aires, 1192, Argentina
Investigational Site Number : 036013
Westmead, New South Wales, 2145, Australia
Investigational Site Number : 151069
Westmead, New South Wales, 2145, Australia
Investigational Site Number : 154087
Brisbane, Queensland, 4029, Australia
Investigational Site Number : 152096
Brisbane, Queensland, 4101, Australia
Investigational Site Number : 151015
Murdoch, Western Australia, 6150, Australia
Investigational Site Number : 150722
Antwerp, 2020, Belgium
Investigational Site Number : 154298
Bruges, 8000, Belgium
Investigational Site Number : 150684
Brussels, 1070, Belgium
Investigational Site Number : 056010
Brussels, 1200, Belgium
Investigational Site Number : 152072
Edegem, 2650, Belgium
Investigational Site Number : 152295
Ghent, 9000, Belgium
Investigational Site Number : 153179
Gosselies, 6041, Belgium
Investigational Site Number : 151668
Leuven, 3000, Belgium
Investigational Site Number : 152126
Leuven, 3000, Belgium
Hospital Universitario Walter Cantidio- Site Number : 076011
Fortaleza, Ceará, 60430-270, Brazil
Hospital Geral Universitario de Cuiaba- Site Number : 076003
Cuiabá, Mato Grosso, 78025-000, Brazil
Hospital de Clinicas de Porto Alegre- Site Number : 076008
Porto Alegre, Rio Grande do Sul, 90035903, Brazil
Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto- Site Number : 076009
Ribeirão Preto, São Paulo, 14049-900, Brazil
Instituto Fernandes Figueira - FIOCRUZ- Site Number : 076001
Rio de Janeiro, 22250-020, Brazil
Instituto de Genética e Erros Inatos do Metabolismo- Site Number : 076002
São Paulo, 04020-041, Brazil
Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo- Site Number : 076004
São Paulo, 05403-000, Brazil
Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo- Site Number : 076007
São Paulo, 05403-000, Brazil
Investigational Site Number : 100001
Sofia, 1680, Bulgaria
Investigational Site Number : 124014
Calgary, Alberta, T2E 7Z4, Canada
Investigational Site Number : 124002
Edmonton, Alberta, T6G 2B7, Canada
Investigational Site Number : 124007
Lethbridge, Alberta, T1J 0N9, Canada
Investigational Site Number : 124010
Vancouver, British Columbia, V5Z 1M9, Canada
Investigational Site Number : 124011
Vancouver, British Columbia, V6H 3N1, Canada
Investigational Site Number : 124019
Winnipeg, Manitoba, R3A 1R9, Canada
Investigational Site Number : 124022
Moncton, New Brunswick, E1C 2Z3, Canada
Investigational Site Number : 124021
London, Ontario, N6A 5A5, Canada
Investigational Site Number : 124018
Ottawa, Ontario, K1K 4L2, Canada
Investigational Site Number : 124006
Toronto, Ontario, M5G 1X8, Canada
Investigational Site Number : 124004
Montreal, Quebec, H3A2B4, Canada
Investigational Site Number : 124001
Sherbrooke, Quebec, J1K 2R1, Canada
Investigational Site Number : 152002
Punta Arenas, Chile
Investigational Site Number : 152001
Santiago, Chile
Investigational Site Number : 152380
Beijing, 100730, China
Investigational Site Number : 153202
Beijing, 100730, China
Investigational Site Number : 153203
Beijing, 100730, China
Investigational Site Number : 152379
Guangzhou, 510620, China
Investigational Site Number : 152381
Jinan, 250014, China
Investigational Site Number : 157250
Jinan, 250014, China
Investigational Site Number : 152382
Shanghai, 200040, China
Investigational Site Number : 152356
Shanghai, 200092, China
Investigational Site Number : 170001
Bogotá, 11001000, Colombia
Investigational Site Number : 1910001
Zagreb, 10000, Croatia
Investigational Site Number : 1910002
Zagreb, 10000, Croatia
Investigational Site Number : 150809
Prague, 12808, Czechia
Investigational Site Number : 151229
Copenhagen, 2100, Denmark
Investigational Site Number : 250010
Bordeaux, 33076, France
Investigational Site Number : 250012
Brest, 29200, France
Investigational Site Number : 250003
Bron, 69677, France
Investigational Site Number : 250007
Bron, 69677, France
Investigational Site Number : 250009
Caen, 14033, France
Investigational Site Number : 250015
La Tronche, 38700, France
Investigational Site Number : 250008
Lille, 59037, France
Investigational Site Number : 250002
Marseille, 13885, France
Investigational Site Number : 250017
Nancy, 54035, France
Investigational Site Number : 250019
Nantes, 44093, France
Investigational Site Number : 250005
Nice, 06001, France
Investigational Site Number : 250011
Nîmes, 30029, France
Investigational Site Number : 250004
Paris, 75015, France
Investigational Site Number : 250001
Paris, 75651, France
Investigational Site Number : 250018
Saint-Priest-en-Jarez, 42270, France
Investigational Site Number : 250016
Strasbourg, 67200, France
Investigational Site Number : 250014
Toulouse, 31059, France
Investigational Site Number : 250006
Tours, 37032, France
Investigational Site Number : 25013
Vannes, 56017, France
Investigational Site Number : 152041
Berlin, 13125, Germany
Investigational Site Number : 151686
Berlin, 13353, Germany
Investigational Site Number : 152293
Berlin, 13353, Germany
Investigational Site Number : 152234
Bochum, 44789, Germany
Investigational Site Number : 152200
Bonn, 53127, Germany
Investigational Site Number : 152108
Freiburg im Breisgau, 79106, Germany
Investigational Site Number : 154150
Giessen, 35392, Germany
Investigational Site Number : 152045
Halle, 06120, Germany
Investigational Site Number : 154215
Hamburg, 20354, Germany
Investigational Site Number : 150031
Mainz, 55131, Germany
Investigational Site Number : 152075
Munich, 80539, Germany
Investigational Site Number : 152299
Münster, 48149, Germany
Investigational Site Number : 300001
Thessaloniki, 546 42, Greece
Investigational Site Number : 344001
Kowloon, Hong Kong
Investigational Site Number : 3480009
Debrecen, 4032, Hungary
Investigational Site Number : 3480007
Nyiregyháza, 4400, Hungary
Investigational Site Number : 3480011
Pécs, 7623, Hungary
Investigational Site Number : 356003
Ahmedabad, 380015, India
Investigational Site Number : 356001
Kolkata, 700017, India
Investigational Site Number : 3560004
Secunderabad, 500026, India
Investigational Site Number : 356002
Vellore, 632004, India
Investigational Site Number : 360001
Jakarta, Indonesia
Investigational Site Number : 3760002
Beersheba, Israel
Investigational Site Number : 3760001
Haifa, Israel
Investigational Site Number : 3760003
Tel Aviv, Israel
Investigational Site Number : 380020
Gussago, Brescia, 25064, Italy
Investigational Site Number : 380014
Cona, Ferrara, 44124, Italy
Investigational Site Number : 380005
Florence, Firenze, 50139, Italy
Investigational Site Number : 380007
Milan, Milano, 20133, Italy
Investigational Site Number : 380011
Padua, Padova, 35128, Italy
Investigational Site Number : 380015
Rome, Roma, 00165, Italy
Investigational Site Number : 380008
Brescia, 25123, Italy
Investigational Site Number : 380006
Cagliari, 09126, Italy
Investigational Site Number : 380013
Messina, 98125, Italy
Investigational Site Number : 380016
Milan, 20122, Italy
Investigational Site Number : 380009
Monza, Italy
Investigational Site Number : 380019
Naples, Italy
Investigational Site Number : 380002
Padova, 35128, Italy
Investigational Site Number : 380003
Pavia, 27100, Italy
Investigational Site Number : 157218
Pisa, 56126, Italy
Investigational Site Number : 380012
Roma, Italy
Investigational Site Number : 380017
Torino, 10126, Italy
Investigational Site Number : 380001
Udine, 33100, Italy
Investigational Site Number : 392105
Ginowan, Okinawa, 901-2214, Japan
Investigational Site Number : 392106
Kyoto, 606-8507, Japan
Investigational Site Number : 4000001
Amman, 261, Jordan
Investigational Site Number : 154225
Kuwait City, Kuwait
Investigational Site Number : 4220004
Beirut, 11072210, Lebanon
Investigational Site Number : 458001
Kuala Lumpur, 50586, Malaysia
Investigational Site Number : 458002
Kuala Lumpur, 59100, Malaysia
Investigational Site Number : 152029
Rotterdam, 3015 CE, Netherlands
Investigational Site Number : 154264
Karachi, Pakistan
Investigational Site Number : 154266
Lahore, Pakistan
Investigational Site Number : 608001
City of Muntinlupa, 1000, Philippines
Investigational Site Number : 150575
Warsaw, 04-730, Poland
Investigational Site Number : 620008
Coimbra, 3000-075, Portugal
Investigational Site Number : 620006
Lisbon, 1649-035, Portugal
Investigational Site Number : 154099
Bucharest, 022328, Romania
Investigational Site Number : 643002
Moscow, 117258, Russia
Investigational Site Number : 682001
Al Qaţīf, Saudi Arabia
Investigational Site Number : 682004
Mecca, 24246, Saudi Arabia
Investigational Site Number : 6880001
Belgrade, 11000, Serbia
Investigational Site Number : 702001
Singapore, 229899, Singapore
Investigational Site Number : 703001
Bratislava, 833 40, Slovakia
Investigational Site Number : 153178
Yangsan, Gyeongsangnam-do, 50612, South Korea
Investigational Site Number : 153180
Seoul, Seoul-teukbyeolsi, 03080, South Korea
Investigational Site Number : 153196
Seoul, Seoul-teukbyeolsi, 03080, South Korea
Investigational Site Number : 153192
Seoul, Seoul-teukbyeolsi, 04401, South Korea
Investigational Site Number : 151149
Seoul, Seoul-teukbyeolsi, 05505, South Korea
Investigational Site Number : 153176
Seoul, Seoul-teukbyeolsi, 06273, South Korea
Investigational Site Number : 153222
Seoul, Seoul-teukbyeolsi, 06973, South Korea
Investigational Site Number : 153191
Daejeon, South Korea
Investigational Site Number : 153212
Seoul, South Korea
Investigational Site Number : 151500
Chiayi City, Taiwan
Investigational Site Number : 154093
Chiayi City, Taiwan
Investigational Site Number : 152152
Hualien City, 970, Taiwan
Investigational Site Number : 152244
Kaohsiung City, 807, Taiwan
Investigational Site Number : 152246
Kaohsiung City, 833, Taiwan
Investigational Site Number : 151534
New Taipei City, 231, Taiwan
Investigational Site Number : 151179
Taichung, 404, Taiwan
Investigational Site Number : 151181
Taichung, 411, Taiwan
Investigational Site Number : 153248
Tainan, 704, Taiwan
Investigational Site Number : 152153
Tainan, 710, Taiwan
Investigational Site Number : 151182
Taipei, 100, Taiwan
Investigational Site Number : 152321
Taipei, 104, Taiwan
Investigational Site Number : 152226
Taipei, 112, Taiwan
Investigational Site Number : 153158
Tao Yuan County, 333, Taiwan
Investigational Site Number : 764002
Bangkok, 10400, Thailand
Investigational Site Number : 764003
Bangkok, 10400, Thailand
Investigational Site Number : 764004
Bangkok, 10700, Thailand
Investigational Site Number : 764001
Bangkok, Thailand
Investigational Site Number : 764005
Khon Kaen, 40002, Thailand
Investigational Site Number : 7840001
Dubai, United Arab Emirates
Investigational Site Number : 151340
Cambridge, Cambridgeshire, CB2 2QQ, United Kingdom
Investigational Site Number : 152334
Cardiff, Cardiff [Caerdydd Gb-crd], CF14 4XW, United Kingdom
Investigational Site Number : 152287
Birmingham, England, B15 2TH, United Kingdom
Investigational Site Number : 154240
Birmingham, England, B4 6NH, United Kingdom
Investigational Site Number : 151123
London, England, NW3 2QG, United Kingdom
Investigational Site Number : 152156
Glasgow, Glasgow City, G51 4TF, United Kingdom
Investigational Site Number : 151646
London, London, City of, WC1N 3BG, United Kingdom
Investigational Site Number : 150303
London, London, City of, WC1N 3JH, United Kingdom
Investigational Site Number : 150964
Salford, Manchester, M6 8HD, United Kingdom
Investigational Site Number : 150455
Manchester, M86rb, United Kingdom
Investigational Site Number : 152087
Newcastle upon Tyne, NE1 7XE, United Kingdom
Investigational Site Number : 154212
Hanoi, Vietnam
Investigational Site Number : 704002
Ho Chi Minh City, 70000, Vietnam
Related Publications (5)
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.
PMID: 25085280BACKGROUNDKishnani 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.
PMID: 23997011BACKGROUNDByrne 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.
PMID: 21439876BACKGROUNDBerger KI, Chien YH, Dubrovsky A, Kishnani PS, Llerena JC Jr, Neilan E, Roberts M, Sheng B, Batista JL, Periquet M, Wilson KM, van der Ploeg AT. Changes in forced vital capacity over </= 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry. J Neurol. 2024 Aug;271(8):5433-5446. doi: 10.1007/s00415-024-12489-9. Epub 2024 Jun 19.
PMID: 38896264DERIVEDZhao Y, Wang Z, Lu J, Gu X, Huang Y, Qiu Z, Wei Y, Yan C. Characteristics of Pompe disease in China: a report from the Pompe registry. Orphanet J Rare Dis. 2019 Apr 3;14(1):78. doi: 10.1186/s13023-019-1054-0.
PMID: 30943998DERIVED
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Study Director
Genzyme, a Sanofi Company
Central Study Contacts
Trial Transparency email recommended (Toll free number for US & Canada)
CONTACT
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Target Duration
- 5 Years
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
September 30, 2005
First Posted
October 4, 2005
Study Start
September 15, 2004
Primary Completion (Estimated)
January 31, 2034
Study Completion (Estimated)
January 31, 2034
Last Updated
April 28, 2026
Record last verified: 2026-04