Glycogen Storage Disease Type IINCT00231400
Pompe Disease Registry Protocol
An observational study of Glycogen Storage Disease Type II and Pompe Disease, run by Genzyme, a Sanofi Company at 272 sites in 44 countries.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Glycogen Storage Disease Type II, Pompe Disease
- How many people
- 2,000 participants
- Where
- 272 sitesin 44 countries
- Study dates
- 15 Sep 2004to 31 Jan 2034
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All patients with a confirmed diagnosis of Pompe disease are eligible for inclusion in the Registry.
Who may be able to join
- 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.
Who cannot join
- There are no exclusion criteria in this Registry
Trial locations and contacts
272 sites in 44 countries. Contact the study team or a site near you to ask about taking part.
Trial Transparency email recommended (Toll free number for US & Canada) contact
Pompe Registry HelpLine contact
272 sites in 44 countries
United States92 sites, 74 recruiting
- Recruiting
University of Michigan Pediatrics- Site Number : 840107
Ann Arbor, Michigan, 48109
- Completed
Children's Hospital Colorado - Aurora- Site Number : 840069
Aurora, Colorado, 80045
- Recruiting
University of Colorado at Denver Genetics- Site Number : 840068
Aurora, Illinois, 80045
- Completed
John Hopkins- Site Number : 840044
Baltimore, Maryland, 21205
- Recruiting
University of Alabama at Birmingham- Site Number : 840106
Birmingham, Alabama, 35233
- Recruiting
Massachusetts General Hospital-Genetics- Site Number : 840062
Boston, Massachusetts, 02114
- Recruiting
Boston Children's Hospital- Site Number : 840092
Boston, Massachusetts, 02115
- Terminated
Cooper Health Center- Site Number : 840098
Camden, New Jersey, 08103
- Recruiting
Carolinas Medical Center Hospital- Site Number : 840065
Charlotte, North Carolina, 28232
- Completed
University of Virginia School of Medicine-Pediatrics- Site Number : 840078
Charlottesville, Virginia, 22908
- Recruiting
Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011
Chicago, Illinois, 60611
- Recruiting
Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840013
Chicago, Illinois, 60611
- Recruiting
Rush University Medical Center Genetics- Site Number : 840079
Chicago, Illinois, 60612
- Recruiting
University of Cincinnati Medical Center- Site Number : 840124
Cincinnati, Ohio, 45219
- Recruiting
University Hospitals Cleveland Medical Center- Site Number : 840119
Cleveland, Ohio, 44106
- Recruiting
Cleveland Clinic - Cleveland- Site Number : 840048
Cleveland, Ohio, 44195
- Recruiting
University of Missouri Health System Department of Genetics- Site Number : 840031
Columbia, Missouri, 65212
- Recruiting
Nationwide Children's Hospital- Site Number : 840091
Columbus, Ohio, 43205
- Recruiting
University of Miami- Site Number : 840006
Coral Gables, Florida, 33124
- Recruiting
Baylor Institute of Metabolic Disease- Site Number : 840058
Dallas, Texas, 75226
- Recruiting
Emory University School of Medicine- Human Genetics- Site Number : 840060
Decatur, Georgia, 30033
- Recruiting
Children's Hospital of Michigan- Site Number : 840066
Detroit, Michigan, 48201
- Recruiting
LSD Data Registry Site LLC- Site Number : 840094
Dublin, Ohio, 43017
- Recruiting
Duke University Medical Center Genetics Dept- Site Number : 840037
Durham, North Carolina, 27710
- Recruiting
O & O Alpan- Site Number : 840025
Fairfax, Virginia, 22030
- Recruiting
Cook Children's Medical Center- Site Number : 840024
Fort Worth, Texas, 76104
- Recruiting
University of Florida College of Medicine- Site Number : 840012
Gainesville, Florida, 32610
- Completed
Corewell Health - Helen DeVos Children's Hospital (HDVCH)- Site Number : 840019
Grand Rapids, Michigan, 49503
- Recruiting
Infusion Associates - Grand Rapids- Site Number : 840050
Grand Rapids, Michigan, 49525
- Recruiting
Greenwood Genetic Center - Greenville- Site Number : 840055
Greenville, South Carolina, 29605
- Recruiting
Hackensack Meridian Health - Hackensack University Medical Center- Site Number : 840101
Hackensack, New Jersey, 07601
- Completed
Penn State Health Milton South Hershey Medical Center- Site Number : 840061
Hershey, Pennsylvania, 17033
- Recruiting
Penn State Health Milton South Hershey Medical Center- Site Number : 840126
Hershey, Pennsylvania, 17033
- Recruiting
NYU Langone Health - Perlmutter Cancer Center - Huntington- Site Number : 840040
Huntington, New York, 11743
- Recruiting
Indianapolis University School of Medicine- Site Number : 840027
Indianapolis, Indiana, 46202
- Recruiting
University of Iowa- Site Number : 840032
Iowa City, Iowa, 52242
- Recruiting
University of California at Irvine- Site Number : 840036
Irvine, California, 90211
- Recruiting
University of Florida Pediatrics Genetics- Site Number : 840121
Jacksonville, Florida, 32207
- Recruiting
University of Kansas Medical Center- Site Number : 840020
Kansas City, Kansas, 66160
- Completed
Children's Mercy Adelle Hall Campus- Site Number : 840063
Kansas City, Missouri, 64108
- Recruiting
Children's Specialty Center - Las Vegas- Site Number : 840008
Las Vegas, Nevada, 89109
- Recruiting
Arkansas Children's Hospital- Site Number : 840109
Little Rock, Arkansas, 72202
- Recruiting
University of Arkansas for Medical Sciences- Site Number : 840113
Little Rock, Arkansas, 72205
- Completed
Loma Linda University- Genetics- Site Number : 840070
Loma Linda, California, 92354
- Recruiting
Southern California Permanente Medical Group- Site Number : 840108
Los Angeles, California, 90027
- Completed
USC Health Sciences Center Dept of Genetics- Site Number : 840082
Los Angeles, California, 90033
- Completed
University of Louisville - Health Sciences Center- Site Number : 840030
Louisville, Kentucky, 40202
- Recruiting
Children's Wisconsin- Site Number : 840054
Milwaukee, Wisconsin, 53226
- Completed
Children's Hospitals and Clinics of Minnesota- Site Number : 840046
Minneapolis, Minnesota, 55404
- Recruiting
Children's Hospitals and Clinics of Minnesota- Site Number : 840114
Minneapolis, Minnesota, 55404
- Recruiting
M Health Fairview University of Minnesota Medical Center - West Bank- Site Number : 840035
Minneapolis, Minnesota, 55454
- Recruiting
M Health Fairview University of Minnesota Medical Center - West Bank- Site Number : 840076
Minneapolis, Minnesota, 55454
- Recruiting
Atlantic Health System- Site Number : 840099
Morristown, New Jersey, 07962
- Recruiting
Vanderbilt University Medical Center Diagnostic Lab- Site Number : 840049
Nashville, Tennessee, 37212
- Recruiting
Saint Peter's University Hospital - New Brunswick- Site Number : 840016
New Brunswick, New Jersey, 08901
- Recruiting
Yale University School of Medicine- Site Number : 840047
New Haven, Connecticut, 06510
- Recruiting
Northwell Health- Site Number : 840102
New Hyde Park, New York, 11042
- Recruiting
Icahn School of Medicine at Mount Sinai- Site Number : 840005
New York, New York, 10029
- Recruiting
Metropolitan Hospital Center- Site Number : 840110
New York, New York, 10029
- Recruiting
Columbia University Irving Medical Center- Site Number : 840125
New York, New York, 10032
- Completed
Children's Hospital of The King's Daughters- Site Number : 840072
Norfolk, Virginia, 23507
- Completed
UCSF Benioff Children's Hospital - Oakland- Site Number : 840029
Oakland, California, 94609
- Recruiting
University of Nebraska Medical Center- Site Number : 840084
Omaha, Nebraska, 68198
- Recruiting
Children's Hospital of Orange County- Site Number : 840074
Orange, California, 92868
- Recruiting
St. Joseph's Regional Medical Center - Paterson- Site Number : 840057
Paterson, New Jersey, 07503
- Recruiting
Children's Hospital of Philadelphia HUP Medical Genetics- Site Number : 840089
Philadelphia, Pennsylvania, 19104
- Recruiting
Children's Hospital of Philadelphia- Site Number : 840034
Philadelphia, Pennsylvania, 19104
- Recruiting
Barrow Neurological Institute- Site Number : 840087
Phoenix, Arizona, 85013
- Recruiting
Phoenix Children's Hospital- Site Number : 840003
Phoenix, Arizona, 85016
- Recruiting
UPMC Children's Hospital of Pittsburgh- Site Number : 840014
Pittsburgh, Pennsylvania, 15224
- Recruiting
UPMC Children's Hospital of Pittsburgh- Site Number : 840023
Pittsburgh, Pennsylvania, 15224
- Recruiting
Maine Medical Partners Pediatric Specialty Care- Site Number : 840064
Portland, Maine, 04102
- Terminated
Oregon Health & Science University (OHSU)- Site Number : 840038
Portland, Oregon, 97239
- Recruiting
Oregon Health & Science University (OHSU)- Site Number : 840080
Portland, Oregon, 97239
- Terminated
Oregon Health & Science University (OHSU)- Site Number : 840095
Portland, Oregon, 97239
- Completed
Rhode Island Hospital Genetics- Site Number : 840053
Providence, Rhode Island, 02903
- Completed
University of Rochester Medical Center- Site Number : 840105
Rochester, New York, 14642
- Recruiting
UC Davis MIND Institute- Site Number : 840010
Sacramento, California, 95817
- Recruiting
University of Utah Department of Medical Genetics- Site Number : 840043
Salt Lake City, Utah, 84132
- Completed
University of California at San Diego- Site Number : 840007
San Diego, California, 92123
- Recruiting
University of California San Francisco - Parnassus Campus- Site Number : 840051
San Francisco, California, 94143
- Recruiting
Seattle Children's Hospital- Site Number : 840028
Seattle, Washington, 98105
- Recruiting
University of Washington Medical Center- Site Number : 840059
Seattle, Washington, 98195
- Recruiting
Baystate Medical Center- Site Number : 840002
Springfield, Massachusetts, 01199
- Recruiting
Washington University- Site Number : 840100
St Louis, Missouri, 63110
- Recruiting
Stanford University Pediatrics- Site Number : 840021
Stanford, California, 94305
- Recruiting
SUNY Upstate Medical University - Site Number : 840052
Syracuse, New York, 13210
- Recruiting
Mary Bridge Children's Hospital & Health Center- Site Number : 840115
Tacoma, Washington, 98405
- Recruiting
University of Florida-Genetics- Site Number : 840096
Tampa, Florida, 33606
- Recruiting
University of Arizona- Site Number : 840015
Tucson, Arizona, 85724
- Recruiting
New York Medical College- Site Number : 840039
Valhalla, New York, 10595
- Recruiting
Children's National Medical Center - Washington- Site Number : 840067
Washington D.C., District of Columbia, 20010
France19 sites, 17 recruiting
- Completed
Investigational Site Number : 250010
Bordeaux, 33076
- Recruiting
Investigational Site Number : 250012
Brest, 29200
- Recruiting
Investigational Site Number : 250003
Bron, 69677
- Recruiting
Investigational Site Number : 250007
Bron, 69677
- Recruiting
Investigational Site Number : 250009
Caen, 14033
- Recruiting
Investigational Site Number : 250015
La Tronche, 38700
- Recruiting
Investigational Site Number : 250008
Lille, 59037
- Completed
Investigational Site Number : 250002
Marseille, 13885
- Recruiting
Investigational Site Number : 250017
Nancy, 54035
- Recruiting
Investigational Site Number : 250019
Nantes, 44093
- Recruiting
Investigational Site Number : 250005
Nice, 06001
- Recruiting
Investigational Site Number : 250011
Nîmes, 30029
- Recruiting
Investigational Site Number : 250001
Paris, 75013
- Recruiting
Investigational Site Number : 250004
Paris, 75015
- Recruiting
Investigational Site Number : 250018
Saint-Priest-en-Jarez, 42270
- Recruiting
Investigational Site Number : 250016
Strasbourg, 67200
- Recruiting
Investigational Site Number : 250014
Toulouse, 31059
- Recruiting
Investigational Site Number : 250006
Tours, 37032
- Recruiting
Investigational Site Number : 25013
Vannes, 56017
Italy18 sites, 18 recruiting
- Recruiting
Investigational Site Number : 380008
Brescia, 25123
- Recruiting
Investigational Site Number : 380006
Cagliari, 09126
- Recruiting
Investigational Site Number : 380014
Cona, Ferrara, 44124
- Recruiting
Investigational Site Number : 380005
Florence, Firenze, 50139
- Recruiting
Investigational Site Number : 380020
Gussago, Brescia, 25064
- Recruiting
Investigational Site Number : 380013
Messina, 98125
- Recruiting
Investigational Site Number : 380007
Milan, Milano, 20133
- Recruiting
Investigational Site Number : 380016
Milan, 20122
- Recruiting
Investigational Site Number : 380009
Monza
- Recruiting
Investigational Site Number : 380019
Naples
- Recruiting
Investigational Site Number : 380002
Padova, 35128
- Recruiting
Investigational Site Number : 380011
Padua, Padova, 35128
- Recruiting
Investigational Site Number : 380003
Pavia, 27100
- Recruiting
Investigational Site Number : 157218
Pisa, 56126
- Recruiting
Investigational Site Number : 380012
Roma
- Recruiting
Investigational Site Number : 380015
Rome, Roma, 00165
- Recruiting
Investigational Site Number : 380017
Torino, 10126
- Recruiting
Investigational Site Number : 380001
Udine, 33100
Taiwan14 sites, 14 recruiting
- Recruiting
Investigational Site Number : 151500
Chiayi City
- Recruiting
Investigational Site Number : 154093
Chiayi City
- Recruiting
Investigational Site Number : 152152
Hualien City, 970
- Recruiting
Investigational Site Number : 152244
Kaohsiung City, 807
- Recruiting
Investigational Site Number : 152246
Kaohsiung City, 833
- Recruiting
Investigational Site Number : 151534
New Taipei City, 231
- Recruiting
Investigational Site Number : 151179
Taichung, 404
- Recruiting
Investigational Site Number : 151181
Taichung, 411
- Recruiting
Investigational Site Number : 153248
Tainan, 704
- Recruiting
Investigational Site Number : 152153
Tainan, 710
- Recruiting
Investigational Site Number : 151182
Taipei, 100
- Recruiting
Investigational Site Number : 152321
Taipei, 104
- Recruiting
Investigational Site Number : 152226
Taipei, 112
- Recruiting
Investigational Site Number : 153158
Tao Yuan County, 333
Canada12 sites, 11 recruiting
- Recruiting
Investigational Site Number : 124014
Calgary, Alberta, T2E 7Z4
- Recruiting
Investigational Site Number : 124002
Edmonton, Alberta, T6G 2B7
- Recruiting
Investigational Site Number : 124007
Lethbridge, Alberta, T1J 0N9
- Recruiting
Investigational Site Number : 124021
London, Ontario, N6A 5A5
- Recruiting
Investigational Site Number : 124022
Moncton, New Brunswick, E1C 2Z3
- Recruiting
Investigational Site Number : 124004
Montreal, Quebec, H3A2B4
- Recruiting
Investigational Site Number : 124018
Ottawa, Ontario, K1K 4L2
- Recruiting
Investigational Site Number : 124001
Sherbrooke, Quebec, J1K 2R1
- Recruiting
Investigational Site Number : 124006
Toronto, Ontario, M5G 1X8
- Recruiting
Investigational Site Number : 124010
Vancouver, British Columbia, V5Z 1M9
- Completed
Investigational Site Number : 124011
Vancouver, British Columbia, V6H 3N1
- Recruiting
Investigational Site Number : 124019
Winnipeg, Manitoba, R3A 1R9
Germany12 sites, 10 recruiting
- Completed
Investigational Site Number : 152041
Berlin, 13125
- Recruiting
Investigational Site Number : 151686
Berlin, 13353
- Recruiting
Investigational Site Number : 152293
Berlin, 13353
- Recruiting
Investigational Site Number : 152234
Bochum, 44789
- Recruiting
Investigational Site Number : 152200
Bonn, 53127
- Recruiting
Investigational Site Number : 152108
Freiburg im Breisgau, 79106
- Recruiting
Investigational Site Number : 154150
Giessen, 35392
- Recruiting
Investigational Site Number : 152045
Halle, 06120
- Recruiting
Investigational Site Number : 154215
Hamburg, 20354
- Recruiting
Investigational Site Number : 150031
Mainz, 55131
- Recruiting
Investigational Site Number : 152075
Munich, 80539
- Completed
Investigational Site Number : 152299
Münster, 48149
United Kingdom11 sites, 11 recruiting
- Recruiting
Investigational Site Number : 152287
Birmingham, England, B15 2TH
- Recruiting
Investigational Site Number : 154240
Birmingham, England, B4 6NH
- Recruiting
Investigational Site Number : 151340
Cambridge, Cambridgeshire, CB2 2QQ
- Recruiting
Investigational Site Number : 152334
Cardiff, Cardiff [Caerdydd Gb-crd], CF14 4XW
- Recruiting
Investigational Site Number : 152156
Glasgow, Glasgow City, G51 4TF
- Recruiting
Investigational Site Number : 151123
London, England, NW3 2QG
- Recruiting
Investigational Site Number : 151646
London, London, City of, WC1N 3BG
- Recruiting
Investigational Site Number : 150303
London, London, City of, WC1N 3JH
- Recruiting
Investigational Site Number : 150455
Manchester, M86rb
- Recruiting
Investigational Site Number : 152087
Newcastle upon Tyne, NE1 7XE
- Recruiting
Investigational Site Number : 150964
Salford, Manchester, M6 8HD
Belgium9 sites, 8 recruiting
- Recruiting
Investigational Site Number : 150722
Antwerp, 2020
- Recruiting
Investigational Site Number : 154298
Bruges, 8000
- Completed
Investigational Site Number : 150684
Brussels, 1070
- Recruiting
Investigational Site Number : 056010
Brussels, 1200
- Recruiting
Investigational Site Number : 152072
Edegem, 2650
- Recruiting
Investigational Site Number : 152295
Ghent, 9000
- Recruiting
Investigational Site Number : 153179
Gosselies, 6041
- Recruiting
Investigational Site Number : 151668
Leuven, 3000
- Recruiting
Investigational Site Number : 152126
Leuven, 3000
Brazil9 sites, 6 recruiting
- Recruiting
Hospital Geral Universitario de Cuiaba- Site Number : 076003
Cuiabá, Mato Grosso, 78025-000
- Recruiting
Hospital Geral de Fortaleza - HGF- Site Number : 076013
Fortaleza, Ceará, 60150-160
- Completed
Hospital Universitario Walter Cantidio- Site Number : 076011
Fortaleza, Ceará, 60430-270
- Recruiting
Hospital de Clinicas de Porto Alegre- Site Number : 076008
Porto Alegre, Rio Grande do Sul, 90035903
- Recruiting
Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto- Site Number : 076009
Ribeirão Preto, São Paulo, 14049-900
- Recruiting
Instituto Fernandes Figueira - FIOCRUZ- Site Number : 076001
Rio de Janeiro, 22250-020
- Recruiting
Instituto de Genética e Erros Inatos do Metabolismo- Site Number : 076002
São Paulo, 04020-041
- Completed
Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo- Site Number : 076004
São Paulo, 05403-000
- Completed
Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo- Site Number : 076007
São Paulo, 05403-000
South Korea9 sites, 6 recruiting
- Recruiting
Investigational Site Number : 153191
Daejeon
- Recruiting
Investigational Site Number : 153180
Seoul, Seoul-teukbyeolsi, 03080
- Completed
Investigational Site Number : 153196
Seoul, Seoul-teukbyeolsi, 03080
- Completed
Investigational Site Number : 153192
Seoul, Seoul-teukbyeolsi, 04401
- Recruiting
Investigational Site Number : 151149
Seoul, Seoul-teukbyeolsi, 05505
- Recruiting
Investigational Site Number : 153176
Seoul, Seoul-teukbyeolsi, 06273
- Recruiting
Investigational Site Number : 153222
Seoul, Seoul-teukbyeolsi, 06973
- Recruiting
Investigational Site Number : 153212
Seoul
- Completed
Investigational Site Number : 153178
Yangsan, Gyeongsangnam-do, 50612
China8 sites, 1 recruiting
- Terminated
Investigational Site Number : 152380
Beijing, 100730
- Terminated
Investigational Site Number : 153202
Beijing, 100730
- Completed
Investigational Site Number : 153203
Beijing, 100730
- Terminated
Investigational Site Number : 152379
Guangzhou, 510620
- Terminated
Investigational Site Number : 152381
Jinan, 250014
- Recruiting
Investigational Site Number : 157250
Jinan, 250014
- Terminated
Investigational Site Number : 152382
Shanghai, 200040
- Terminated
Investigational Site Number : 152356
Shanghai, 200092
Australia5 sites, 3 recruiting
- Completed
Investigational Site Number : 154087
Brisbane, Queensland, 4029
- Terminated
Investigational Site Number : 152096
Brisbane, Queensland, 4101
- Recruiting
Investigational Site Number : 151015
Murdoch, Western Australia, 6150
- Recruiting
Investigational Site Number : 036013
Westmead, New South Wales, 2145
- Recruiting
Investigational Site Number : 151069
Westmead, New South Wales, 2145
Thailand5 sites, 4 recruiting
- Completed
Investigational Site Number : 764002
Bangkok, 10400
- Recruiting
Investigational Site Number : 764003
Bangkok, 10400
- Recruiting
Investigational Site Number : 764004
Bangkok, 10700
- Recruiting
Investigational Site Number : 764001
Bangkok
- Recruiting
Investigational Site Number : 764005
Khon Kaen, 40002
Argentina4 sites, 2 recruiting
- Active, not recruiting
Investigational Site Number : 153194
Buenos Aires, 1181
- Completed
Investigational Site Number : 153032
Buenos Aires, 1192
- Recruiting
Investigational Site Number : 152218
CABA, Buenos Aires, 1424
- Recruiting
Investigational Site Number : 153195
Caba, Buenos Aires, Buenos Aires, C1415EKV
India4 sites, 4 recruiting
- Recruiting
Investigational Site Number : 356003
Ahmedabad, 380015
- Recruiting
Investigational Site Number : 356001
Kolkata, 700017
- Recruiting
Investigational Site Number : 3560004
Secunderabad, 500026
- Recruiting
Investigational Site Number : 356002
Vellore, 632004
Hungary3 sites, 3 recruiting
- Recruiting
Investigational Site Number : 3480009
Debrecen, 4032
- Recruiting
Investigational Site Number : 3480007
Nyiregyháza, 4400
- Recruiting
Investigational Site Number : 3480011
Pécs, 7623
Israel3 sites, 2 recruiting
- Recruiting
Investigational Site Number : 3760002
Beersheba
- Recruiting
Investigational Site Number : 3760001
Haifa
- Completed
Investigational Site Number : 3760003
Tel Aviv
Chile2 sites
- Completed
Investigational Site Number : 152002
Punta Arenas
- Completed
Investigational Site Number : 152001
Santiago
Croatia2 sites, 2 recruiting
- Recruiting
Investigational Site Number : 1910001
Zagreb, 10000
- Recruiting
Investigational Site Number : 1910002
Zagreb, 10000
Japan2 sites
- Completed
Investigational Site Number : 392105
Ginowan, Okinawa, 901-2214
- Completed
Investigational Site Number : 392106
Kyoto, 606-8507
Malaysia2 sites, 2 recruiting
- Recruiting
Investigational Site Number : 458001
Kuala Lumpur, 50586
- Recruiting
Investigational Site Number : 458002
Kuala Lumpur, 59100
Pakistan2 sites, 2 recruiting
- Recruiting
Investigational Site Number : 154264
Karachi
- Recruiting
Investigational Site Number : 154266
Lahore
Portugal2 sites, 2 recruiting
- Recruiting
Investigational Site Number : 620008
Coimbra, 3000-075
- Recruiting
Investigational Site Number : 620006
Lisbon, 1649-035
Saudi Arabia2 sites, 1 recruiting
- Completed
Investigational Site Number : 682001
Al Qaţīf
- Recruiting
Investigational Site Number : 682004
Mecca, 24246
Vietnam2 sites, 2 recruiting
- Recruiting
Investigational Site Number : 154212
Hanoi
- Recruiting
Investigational Site Number : 704002
Ho Chi Minh City, 70000
Bulgaria1 site, 1 recruiting
- Recruiting
Investigational Site Number : 100001
Sofia, 1680
Colombia1 site, 1 recruiting
- Recruiting
Investigational Site Number : 170001
Bogotá, 11001000
Czechia1 site, 1 recruiting
- Recruiting
Investigational Site Number : 150809
Prague, 12808
Denmark1 site, 1 recruiting
- Recruiting
Investigational Site Number : 151229
Copenhagen, 2100
Greece1 site, 1 recruiting
- Recruiting
Investigational Site Number : 300001
Thessaloniki, 546 42
Hong Kong1 site, 1 recruiting
- Recruiting
Investigational Site Number : 344001
Kowloon
Indonesia1 site, 1 recruiting
- Recruiting
Investigational Site Number : 360001
Jakarta
Jordan1 site, 1 recruiting
- Recruiting
Investigational Site Number : 4000001
Amman, 261
Lebanon1 site, 1 recruiting
- Recruiting
Investigational Site Number : 4220004
Beirut, 11072210
Netherlands1 site, 1 recruiting
- Recruiting
Investigational Site Number : 152029
Rotterdam, 3015 CE
Philippines1 site, 1 recruiting
- Recruiting
Investigational Site Number : 608001
City of Muntinlupa, 1000
Poland1 site, 1 recruiting
- Recruiting
Investigational Site Number : 150575
Warsaw, 04-730
Romania1 site, 1 recruiting
- Recruiting
Investigational Site Number : 154099
Bucharest, 022328
Singapore1 site, 1 recruiting
- Recruiting
Investigational Site Number : 702001
Singapore, 229899
Slovakia1 site
- Completed
Investigational Site Number : 703001
Bratislava, 833 40
United Arab Emirates1 site, 1 recruiting
- Recruiting
Investigational Site Number : 7840001
Dubai
About this study
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.
Read the detailed description
Study Design Time Perspective: Retrospective and Prospective
- Conditions
- Glycogen Storage Disease Type II, Pompe Disease
- Keywords
- Glycogen Storage Disease Type II (GSD-II), GSD-II, Pompe Disease, Pompe Disease (late-onset), Acid Maltase Deficiency Disease, Glycogenosis II
- Medical subject headings
- Glycogen Storage Disease Type II
What is being measured
The primary outcome is the main question the study is designed to answer.
Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease
Measured: maximum 30 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Oct 2005 (estimated)
- Study start15 Sep 2004
- Primary completion31 Jan 2034 (estimated)
- Study completion31 Jan 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Glycogen Storage Disease Type IIStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 2,000 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Genzyme, a Sanofi Company
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Study Director, Study director, Genzyme, a Sanofi Company
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00231400
- Sponsor's protocol ID
- DIREGC07005
- Status last verified
- Jun 2026
- First submitted
- 30 Sep 2005
- Last updated
- 23 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 25085280Kishnani 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.
PubMed 23997011Byrne 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.
PubMed 21439876Berger 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.
PubMed 38896264Zhao 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.
PubMed 30943998
Study at a glance
From the registry record, last updated by the sponsor on 23 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pompe Disease Registry
- ClinicalTrials.gov ID
- NCT00231400
- Acronym / sponsor ID
- DIREGC07005
- Conditions
- Glycogen Storage Disease Type II, Pompe Disease
- Keywords
- Glycogen Storage Disease Type II (GSD-II), GSD-II, Pompe Disease, Pompe Disease (late-onset), Acid Maltase Deficiency Disease, Glycogenosis II
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- 15 Sep 2004 (actual)
- Primary completion
- 31 Jan 2034 (estimated)
- Study completion
- 31 Jan 2034 (estimated)
- First posted
- 4 Oct 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Study Design Time Perspective: Retrospective and Prospective
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 5 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients with a confirmed diagnosis of Pompe disease are eligible for inclusion in the Registry.
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- There are no exclusion criteria in this Registry
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease
Time frame: maximum 30 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Jun 2026.
- Background: PubMed 25085280Kishnani 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.
- Background: PubMed 23997011Kishnani 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.
- Background: PubMed 21439876Byrne 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.
- Derived from this study: PubMed 38896264Berger 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.
- Derived from this study: PubMed 30943998Zhao 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Trial Transparency email recommended (Toll free number for US & Canada) contact
Pompe Registry HelpLine contact
Study Director study director
Genzyme, a Sanofi Company
272 sites in 44 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Glycogen Storage Disease Type II and Pompe Disease, run by Genzyme, a Sanofi Company at 272 sites in 44 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 23 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 272 sites in United States, France, Italy, Taiwan, Canada and 39 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Trial Transparency email recommended (Toll free number for US & Canada) (800-633-1610 ext. option 6, contact-us@sanofi.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Understanding of the variability, progression , identification and natural history of the manifestations of Pompe disease (time frame: maximum 30 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00231400, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Jun 2026.