Fabry Disease Registry & Pregnancy Sub-registry
April 27, 2026 updated by: Genzyme, a Sanofi Company
Fabry Disease Registry Protocol
The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician.
The primary objectives of the Registry are:
- To enhance the understanding of the variability, progression, and natural history of Fabry disease, including heterozygous females with the disease;
- To assist the Fabry medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care;
- To characterize and describe the Fabry population as a whole;
- To evaluate the long-term safety and effectiveness of Fabrazyme®
Fabry Pregnancy Sub-registry: This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Fabry Registry, regardless of whether she is receiving disease-specific therapy (such as enzyme replacement therapy with agalsidase beta) and irrespective of the commercial product with which she may be treated. Data from the Sub-registry are also used to fulfill various global regulatory requirements, to support product development/reimbursement, and for other research and non-research-related purposes. 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. If a patient consents to this Sub-registry, information about the patient's medical and obstetric history, pregnancy, and birth will be collected, and, if a patient consents to data collection for her infant, data on infant growth through month 36 postpartum will be collected.
Study Overview
Status
Recruiting
Conditions
Study Type
Observational
Enrollment (Estimated)
9000
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Fabry Registry HelpLine
- Phone Number: 617-591-5500
Study Contact Backup
- Name: Trial Transparency
- Phone Number: option 6 800-633-1610
- Email: contact-us@sanofi.com
Study Locations
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-
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Buenos Aires, Argentina, 1280
- Completed
- Investigational Site Number : 153172
-
Buenos Aires, Argentina, 1107
- Recruiting
- Investigational Site Number : 604002
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Buenos Aires, Argentina, 1192
- Completed
- Investigational Site Number : 153032
-
La Rioja Province, Argentina, 5300
- Recruiting
- Investigational Site Number : 153270
-
Neuquén, Argentina, 8300
- Completed
- Investigational Site Number : 032005
-
San Luis, Argentina, 5700
- Completed
- Investigational Site Number : 153130
-
Santa Fe, Argentina, 3000
- Recruiting
- Investigational Site Number : 032004
-
-
Buenos Aires
-
Berazategui, Buenos Aires, Argentina, B
- Recruiting
- Investigational Site Number : 153280
-
Caba, Buenos Aires, Buenos Aires, Argentina, C1415EKV
- Recruiting
- Investigational Site Number : 153260
-
San Isidro, Buenos Aires, Argentina, 1642
- Recruiting
- Investigational Site Number : 153250
-
-
Catamarca Province
-
Catamarca, Catamarca Province, Argentina, 4703
- Completed
- Investigational Site Number : 153194
-
-
-
-
New South Wales
-
Westmead, New South Wales, Australia, 2145
- Recruiting
- Investigational Site Number : 036013
-
Westmead, New South Wales, Australia, 2145
- Recruiting
- Investigational Site Number : 151069
-
-
Queensland
-
Brisbane, Queensland, Australia, 4029
- Recruiting
- Investigational Site Number : 153063
-
-
South Australia
-
Adelaide, South Australia, Australia, 5000
- Recruiting
- Investigational Site Number : 151002
-
-
Victoria
-
Parkville, Victoria, Australia, 3050
- Recruiting
- Investigational Site Number : 153040
-
-
Western Australia
-
Perth, Western Australia, Australia, 6000
- Recruiting
- Investigational Site Number : 153090
-
-
-
-
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Antwerp, Belgium, 2020
- Recruiting
- Investigational Site Number : 150722
-
Antwerp, Belgium, 2020
- Recruiting
- Investigational Site Number : 153133
-
Brussels, Belgium, 1070
- Recruiting
- Investigational Site Number : 153001
-
Brussels, Belgium, 1200
- Recruiting
- Investigational Site Number : 150517
-
Brussels, Belgium, 1090
- Recruiting
- Investigational Site Number : 0560008
-
Leuven, Belgium, 3000
- Recruiting
- Investigational Site Number : 151668
-
Liège, Belgium, 4000
- Recruiting
- Investigational Site Number : 154275
-
Seraing, Belgium, 4100
- Recruiting
- Investigational Site Number : 153100
-
-
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-
-
São Paulo, Brazil, 04020-041
- Recruiting
- Instituto de Genética e Erros Inatos do Metabolismo- Site Number : 076001
-
-
Ceará
-
Fortaleza, Ceará, Brazil, 60430-275
- Recruiting
- NPDM - Núcleo de Pesquisa e Desenvolvimento de Medicamentos- Site Number : 076007
-
-
Estado de Bahia
-
Feira de Santana, Estado de Bahia, Brazil, 44001-584
- Recruiting
- Clínica Senhor do Bonfim- Site Number : 076008
-
-
Mato Grosso
-
Cuiabá, Mato Grosso, Brazil, 78025-000
- Recruiting
- Hospital Geral Universitario de Cuiaba- Site Number : 076006
-
-
Paraná
-
Curitiba, Paraná, Brazil, 80060-000
- Recruiting
- Universidade Federal do Paraná- Site Number : 076004
-
-
Pernambuco
-
Recife, Pernambuco, Brazil, 50070-550
- Recruiting
- Instituto de Medicina Integral Professor Fernando Figueira- Site Number : 076005
-
-
Santa Catarina
-
Florianópolis, Santa Catarina, Brazil, 88040-970
- Recruiting
- Hospital Universitário Polydoro Ernani de São Thiago - UFSC- Site Number : 076012
-
-
São Paulo
-
Campinas, São Paulo, Brazil, 13034-685
- Recruiting
- Hospital e Maternidade Celso Pierro - PUC-Campinas- Site Number : 076013
-
Campinas, São Paulo, Brazil, 13081-970
- Completed
- Centro de Pesq Materno Infantil de Campinas- Site Number : 076009
-
Ourinhos, São Paulo, Brazil, 19900280
- Recruiting
- Serviço de Terapia Renal de Ourinhos- Site Number : 076011
-
Ribeirão Preto, São Paulo, Brazil, 14055-380
- Recruiting
- Centro Saude Escola Joel Domingos Machado- Site Number : 076002
-
-
-
-
-
Sofia, Bulgaria, 1680
- Recruiting
- Investigational Site Number : 100001
-
Sofia, Bulgaria, 1431
- Completed
- Investigational Site Number : 153169
-
-
-
-
Alberta
-
Calgary, Alberta, Canada, T2E 7Z4
- Recruiting
- Investigational Site Number : 124014
-
Edmonton, Alberta, Canada, T6G 2B7
- Recruiting
- Investigational Site Number : 124002
-
-
British Columbia
-
Vancouver, British Columbia, Canada, V5Z 1M9
- Recruiting
- Investigational Site Number : 124010
-
Vancouver, British Columbia, Canada, V6H 3N1
- Completed
- Investigational Site Number : 124011
-
-
Manitoba
-
Winnipeg, Manitoba, Canada, R3A 1R9
- Recruiting
- Investigational Site Number : 124019
-
-
New Brunswick
-
Moncton, New Brunswick, Canada, E1C 2Z3
- Recruiting
- Investigational Site Number : 124022
-
-
Newfoundland and Labrador
-
St. John's, Newfoundland and Labrador, Canada, A1B 3V6
- Recruiting
- Investigational Site Number : 124023
-
-
Nova Scotia
-
Halifax, Nova Scotia, Canada, B3H 3A7
- Recruiting
- Investigational Site Number : 124008
-
-
Ontario
-
Kingston, Ontario, Canada, K7L 4X3
- Terminated
- Investigational Site Number : 124005
-
London, Ontario, Canada, N6A 5A5
- Recruiting
- Investigational Site Number : 124021
-
Toronto, Ontario, Canada, M5G 1X8
- Recruiting
- Investigational Site Number : 124006
-
Toronto, Ontario, Canada, M5T 3H7
- Recruiting
- Investigational Site Number : 124009
-
-
Quebec
-
Montreal, Quebec, Canada, H4J 1C5
- Recruiting
- Investigational Site Number : 124013
-
Sherbrooke, Quebec, Canada, J1K 2R1
- Recruiting
- Investigational Site Number : 124001
-
-
-
-
-
Antofagasta, Chile
- Recruiting
- Investigational Site Number : 152004
-
Coquimbo, Chile, 1710228
- Recruiting
- Investigational Site Number : 152001
-
Iquique, Chile
- Completed
- Investigational Site Number : 152003
-
Santiago, Chile
- Terminated
- Investigational Site Number : 152002
-
Vallenar, Chile
- Completed
- Investigational Site Number : 152005
-
-
-
-
-
Beijing, China, 100730
- Terminated
- Investigational Site Number : 153165
-
Hangzhou, China, 310003
- Recruiting
- Investigational Site Number : 1560003
-
Jinan, China, 250001
- Recruiting
- Investigational Site Number : 1560002
-
Nanjing, China, 210008
- Recruiting
- Investigational Site Number : 1560004
-
Shanghai, China, 200025
- Recruiting
- Investigational Site Number : 1560001
-
Shanghai, China, 200025
- Terminated
- Investigational Site Number : 153163
-
-
-
-
-
Bogotá, Colombia, 110131
- Recruiting
- Investigational Site Number : 170001
-
-
-
-
-
Rijeka, Croatia, 51000
- Completed
- Investigational Site Number : 1910001
-
Zagreb, Croatia, 10000
- Recruiting
- Investigational Site Number : 1910002
-
-
-
-
-
Prague, Czechia, 128 08
- Recruiting
- Investigational Site Number : 153126
-
-
-
-
-
Copenhagen, Denmark, 2100
- Completed
- Investigational Site Number : 151229
-
Copenhagen, Denmark, 2100
- Recruiting
- Investigational Site Number : 153041
-
-
-
-
-
Tartu, Estonia, 50406
- Recruiting
- Investigational Site Number : 153106
-
-
-
-
-
Turku, Finland, 20521
- Recruiting
- Investigational Site Number : 153024
-
-
-
-
-
Bordeaux, France, 33076
- Recruiting
- Investigational Site Number : 250005
-
Bron, France, 69677
- Recruiting
- Investigational Site Number : 250002
-
Garches, France, 92380
- Recruiting
- Investigational Site Number : 250001
-
Lille, France, 59037
- Recruiting
- Investigational Site Number : 250007
-
Saint-Priest-en-Jarez, France, 42270
- Recruiting
- Investigational Site Number : 250004
-
Strasbourg, France, 67000
- Recruiting
- Investigational Site Number : 250009
-
-
-
-
-
Berlin, Germany, 13353
- Recruiting
- Investigational Site Number : 153013
-
Giessen, Germany, 35392
- Recruiting
- Investigational Site Number : 154150
-
Münster, Germany, 48149
- Recruiting
- Investigational Site Number : 153147
-
Würzburg, Germany, 97080
- Recruiting
- Investigational Site Number : 153011
-
-
-
-
-
Kowloon, Hong Kong
- Recruiting
- Investigational Site Number : 344001
-
-
-
-
-
Budapest, Hungary, 1212
- Recruiting
- Investigational Site Number : 3480002
-
Létavértes, Hungary, 4281
- Recruiting
- Investigational Site Number : 3480003
-
Pécs, Hungary, 7623
- Recruiting
- Investigational Site Number : 3480005
-
Sopron, Hungary, 9400
- Recruiting
- Investigational Site Number : 3480004
-
-
-
-
-
Ahmedabad, India, 380015
- Recruiting
- Investigational Site Number : 356003
-
Kolkata, India, 700017
- Recruiting
- Investigational Site Number : 356001
-
Secunderabad, India, 500026
- Recruiting
- Investigational Site Number : 3560004
-
Vellore, India, 632004
- Recruiting
- Investigational Site Number : 356002
-
-
-
-
-
Jakarta, Indonesia
- Recruiting
- Investigational Site Number : 360001
-
-
-
-
-
Bassano del Grappa, Italy, 36061
- Recruiting
- Investigational Site Number : 380002
-
Bologna, Italy, 40138
- Recruiting
- Investigational Site Number : 380019
-
Florence, Italy, 50134
- Recruiting
- Investigational Site Number : 380004
-
Naples, Italy, 80130
- Recruiting
- Investigational Site Number : 380008
-
Naples, Italy, 80131
- Recruiting
- Investigational Site Number : 380008
-
Ragusa, Italy, 97019
- Recruiting
- Investigational Site Number : 380014
-
Rimini, Italy, 47900
- Completed
- Investigational Site Number : 380007
-
Torino, Italy, 10126
- Recruiting
- Investigational Site Number : 380011
-
Udine, Italy, 33100
- Recruiting
- Investigational Site Number : 380001
-
-
Firenze
-
Florence, Firenze, Italy, 50139
- Recruiting
- Investigational Site Number : 380013
-
-
Milano
-
Milan, Milano, Italy, 20142
- Completed
- Investigational Site Number : 380009
-
Milan, Milano, Italy, 20162
- Completed
- Investigational Site Number : 380006
-
-
Modena
-
Baggiovara, Modena, Italy, 41126
- Recruiting
- Investigational Site Number : 380003
-
-
Monza E Brianza
-
Monza, Monza E Brianza, Italy, 20052
- Recruiting
- Investigational Site Number : 380010
-
-
Padova
-
Padua, Padova, Italy, 35128
- Recruiting
- Investigational Site Number : 157282
-
-
Roma
-
Rome, Roma, Italy, 00168
- Recruiting
- Investigational Site Number : 380012
-
-
-
-
-
Chiba, Japan, 266-0007
- Recruiting
- Investigational Site Number : 153217
-
Niigata, Japan, 951-8520
- Recruiting
- Investigational Site Number : 392006
-
Osaka, Japan, 545-8586
- Completed
- Investigational Site Number : 153205
-
Tokyo, Japan, 157-8535
- Recruiting
- Investigational Site Number : 153204
-
-
Hyōgo
-
Kobe, Hyōgo, Japan, 650-0017
- Active, not recruiting
- Investigational Site Number : 392007
-
-
Kochi
-
Nankoku, Kochi, Japan, 783-8505
- Recruiting
- Investigational Site Number : 153201
-
-
-
-
-
Vilnius, Lithuania, 08406
- Recruiting
- Investigational Site Number : 154244
-
Vilnius, Lithuania, 08661
- Recruiting
- Investigational Site Number : 154652
-
-
-
-
-
Kuala Lumpur, Malaysia, 59100
- Recruiting
- Investigational Site Number : 458002
-
Kuala Lumpur, Malaysia, 50586
- Recruiting
- Investigational Site Number : 458001
-
-
-
-
-
Amsterdam, Netherlands, 1105 AZ
- Terminated
- Investigational Site Number : 151171
-
Amsterdam, Netherlands, 1105 AZ
- Terminated
- Investigational Site Number : 153004
-
-
-
-
-
Bergen, Norway, 5021
- Recruiting
- Investigational Site Number : 153141
-
-
-
-
-
Lima, Peru
- Recruiting
- Investigational Site Number : 604001
-
-
-
-
-
City of Muntinlupa, Philippines, 1000
- Recruiting
- Investigational Site Number : 608001
-
-
-
-
-
Warsaw, Poland, 04-730
- Recruiting
- Investigational Site Number : 150575
-
-
-
-
-
Lisbon, Portugal, 1649-035
- Recruiting
- Investigational Site Number : 620005
-
Porto, Portugal, 4200-319
- Recruiting
- Investigational Site Number : 620001
-
-
-
-
-
Brasov, Romania, 500326
- Recruiting
- Investigational Site Number : 154164
-
Bucharest, Romania, 022328
- Recruiting
- Investigational Site Number : 154099
-
Cluj-Napoca, Romania, 400006
- Completed
- Investigational Site Number : 153081
-
-
-
-
-
Moscow, Russia
- Recruiting
- Investigational Site Number : 643001
-
Nizhny Novgorod, Russia, 603155
- Recruiting
- Investigational Site Number : 643003
-
Saint Petersburg, Russia, 197341
- Recruiting
- Investigational Site Number : 643002
-
-
-
-
-
Al-Hasa, Saudi Arabia, 31982
- Recruiting
- Investigational Site Number : 682002
-
-
-
-
-
Novi Sad, Serbia, 21000
- Recruiting
- Investigational Site Number : 6880001
-
-
-
-
-
Singapore, Singapore, 229899
- Recruiting
- Investigational Site Number : 702001
-
-
-
-
-
Bratislava, Slovakia, 833 40
- Completed
- Investigational Site Number : 703001
-
Nové Zámky, Slovakia, 940 34
- Recruiting
- Investigational Site Number : 705001
-
-
-
-
-
Busan, South Korea
- Recruiting
- Investigational Site Number : 154246
-
Daejeon, South Korea
- Recruiting
- Investigational Site Number : 153191
-
Seoul, South Korea
- Recruiting
- Investigational Site Number : 153212
-
Seoul, South Korea, NaN
- Recruiting
- Investigational Site Number : 153188
-
-
Gyeonggi-do
-
Suwon, Gyeonggi-do, South Korea, 16247
- Recruiting
- Investigational Site Number : 154273
-
-
Gyeongsangnam-do
-
Yangsan, Gyeongsangnam-do, South Korea, 50612
- Terminated
- Investigational Site Number : 154208
-
Yangsan, Gyeongsangnam-do, South Korea, 50612
- Completed
- Investigational Site Number : 153178
-
Yangsan, Gyeongsangnam-do, South Korea, 50612
- Recruiting
- Investigational Site Number : 157176
-
-
Jeju-teukbyeoljachido
-
Jeju City, Jeju-teukbyeoljachido, South Korea, 63241
- Terminated
- Investigational Site Number : 153228
-
-
Seoul-teukbyeolsi
-
Seoul, Seoul-teukbyeolsi, South Korea, 03080
- Recruiting
- Investigational Site Number : 153180
-
Seoul, Seoul-teukbyeolsi, South Korea, 03080
- Recruiting
- Investigational Site Number : 153196
-
Seoul, Seoul-teukbyeolsi, South Korea, 04401
- Completed
- Investigational Site Number : 153192
-
Seoul, Seoul-teukbyeolsi, South Korea, 05505
- Recruiting
- Investigational Site Number : 151149
-
Seoul, Seoul-teukbyeolsi, South Korea, 06973
- Recruiting
- Investigational Site Number : 153222
-
-
-
-
-
Barcelona, Spain, 8003
- Recruiting
- Investigational Site Number : 154123
-
-
A Coruña [La Coruña]
-
A Coruña, A Coruña [La Coruña], Spain, 15006
- Completed
- Investigational Site Number : 154146
-
A Coruña, A Coruña [La Coruña], Spain, 15006
- Completed
- Investigational Site Number : 154159
-
-
Barcelona [Barcelona]
-
Barcelona, Barcelona [Barcelona], Spain, 08035
- Recruiting
- Investigational Site Number : 153237
-
Barcelona, Barcelona [Barcelona], Spain, 08035
- Recruiting
- Investigational Site Number : 154147
-
-
Basque Country
-
Barakaldo, Basque Country, Spain, 48903
- Completed
- Investigational Site Number : 154135
-
-
Catalunya [Cataluña]
-
Barcelona, Catalunya [Cataluña], Spain, 08036
- Recruiting
- Investigational Site Number : 154204
-
Barcelona, Catalunya [Cataluña], Spain, 08025
- Recruiting
- Investigational Site Number : 153067
-
L'Hospitalet de Llobregat, Catalunya [Cataluña], Spain, 08907
- Recruiting
- Investigational Site Number : 153077
-
-
Pontevedra [Pontevedra]
-
Vigo, Pontevedra [Pontevedra], Spain, 36200
- Recruiting
- Investigational Site Number : 153213
-
-
Tarragona [Tarragona]
-
Tarragona, Tarragona [Tarragona], Spain, 43005
- Recruiting
- Investigational Site Number : 154136
-
-
-
-
-
Gothenburg, Sweden, 413 45
- Recruiting
- Investigational Site Number : 153050
-
Stockholm, Sweden, 171 76
- Recruiting
- Investigational Site Number : 151484
-
-
-
-
-
Chiayi City, Taiwan
- Recruiting
- Investigational Site Number : 151500
-
Chiayi City, Taiwan
- Recruiting
- Investigational Site Number : 154093
-
Hualien City, Taiwan, 970
- Recruiting
- Investigational Site Number : 152152
-
Kaohsiung City, Taiwan, 833
- Recruiting
- Investigational Site Number : 152246
-
Kaohsiung City, Taiwan, 807
- Completed
- Investigational Site Number : 152244
-
Kaohsiung City, Taiwan, 813
- Completed
- Investigational Site Number : 153088
-
New Taipei City, Taiwan, 231
- Recruiting
- Investigational Site Number : 151534
-
Taichung, Taiwan, 407
- Recruiting
- Investigational Site Number : 151181
-
Taichung, Taiwan, 404
- Recruiting
- Investigational Site Number : 151179
-
Tainan, Taiwan, 704
- Recruiting
- Investigational Site Number : 153248
-
Tainan, Taiwan, 710
- Recruiting
- Investigational Site Number : 152153
-
Taipei, Taiwan, 112
- Recruiting
- Investigational Site Number : 152226
-
Taipei, Taiwan, 100
- Recruiting
- Investigational Site Number : 151182
-
Taipei, Taiwan, 104
- Recruiting
- Investigational Site Number : 152321
-
Tao Yuan County, Taiwan, 333
- Recruiting
- Investigational Site Number : 153158
-
-
-
-
-
Bangkok, Thailand, 10400
- Recruiting
- Investigational Site Number : 764003
-
Bangkok, Thailand, 10700
- Recruiting
- Investigational Site Number : 764004
-
Bangkok, Thailand
- Recruiting
- Investigational Site Number : 764001
-
Khon Kaen, Thailand, 40002
- Recruiting
- Investigational Site Number : 764005
-
-
-
-
-
Belfast, United Kingdom, BT9 7AB
- Recruiting
- Investigational Site Number : 154196
-
Manchester, United Kingdom, M13 9wl
- Recruiting
- Investigational Site Number : 150455
-
-
Cambridgeshire
-
Cambridge, Cambridgeshire, United Kingdom, CB2 2QQ
- Recruiting
- Investigational Site Number : 151340
-
-
England
-
Birmingham, England, United Kingdom, B15 2TH
- Recruiting
- Investigational Site Number : 152287
-
London, England, United Kingdom, NW3 2QG
- Recruiting
- Investigational Site Number : 151123
-
-
London, City of
-
London, London, City of, United Kingdom, WC1N 3JH
- Recruiting
- Investigational Site Number : 150303
-
London, London, City of, United Kingdom, WC1N 3BG
- Recruiting
- Investigational Site Number : 151646
-
-
Manchester
-
Salford, Manchester, United Kingdom, M6 8HD
- Recruiting
- Investigational Site Number : 152361
-
-
-
-
Alabama
-
Birmingham, Alabama, United States, 35294
- Completed
- University of Alabama Birmingham- Nephrology- Site Number : 840018
-
Birmingham, Alabama, United States, 35294
- Recruiting
- University of Alabama Birmingham- Nephrology- Site Number : 840073
-
-
Arizona
-
Phoenix, Arizona, United States, 85016
- Recruiting
- Phoenix Children's Hospital- Site Number : 840003
-
Tucson, Arizona, United States, 85724
- Recruiting
- University of Arizona- Site Number : 840015
-
-
Arkansas
-
Little Rock, Arkansas, United States, 72205
- Recruiting
- University of Arkansas for Medical Sciences- Site Number : 840113
-
Little Rock, Arkansas, United States, 72202
- Recruiting
- Arkansas Children's Hospital- Site Number : 840109
-
-
California
-
Irvine, California, United States, 92697
- Recruiting
- University of California at Irvine- Site Number : 840036
-
Los Angeles, California, United States, 90027
- Recruiting
- Southern California Permanente Medical Group- Site Number : 840108
-
Los Angeles, California, United States, 90095
- Recruiting
- UCLA School Of Medicine- Site Number : 840088
-
Los Angeles, California, United States, 90033
- Completed
- USC Health Sciences Center Dept of Genetics- Site Number : 840082
-
Oakland, California, United States, 94609
- Completed
- UCSF Benioff Children's Hospital - Oakland- Site Number : 840029
-
Orange, California, United States, 92868
- Recruiting
- Children's Hospital of Orange County- Site Number : 840074
-
Sacramento, California, United States, 95817
- Recruiting
- UC Davis MIND Institute- Site Number : 840010
-
Sacramento, California, United States, 95825
- Completed
- Kaiser Permanente Sacramento Medical Center- Site Number : 840042
-
San Diego, California, United States, 92093
- Completed
- University of California at San Diego- Site Number : 840007
-
San Francisco, California, United States, 94143
- Recruiting
- University of California San Francisco - Parnassus Campus- Site Number : 840051
-
Stanford, California, United States, 94305
- Recruiting
- Stanford University Medical Center- Site Number : 840022
-
-
Connecticut
-
New Haven, Connecticut, United States, 06510
- Recruiting
- Yale University School of Medicine- Site Number : 840047
-
-
District of Columbia
-
Washington D.C., District of Columbia, United States, 20010
- Recruiting
- Children's National Medical Center - Washington- Site Number : 840067
-
-
Florida
-
Coral Springs, Florida, United States, 33065
- Recruiting
- University Hematology Oncology- Site Number : 840075
-
Gainesville, Florida, United States, 32610
- Recruiting
- University of Florida Dept of Genetics- Site Number : 840083
-
Jacksonville, Florida, United States, 32207
- Recruiting
- University of Florida Pediatrics Genetics- Site Number : 840121
-
Miami, Florida, United States, 33136
- Recruiting
- University Of Miami SOM- Site Number : 840006
-
Tampa, Florida, United States, 33606
- Recruiting
- University of Florida-Genetics- Site Number : 840096
-
-
Georgia
-
Decatur, Georgia, United States, 30033
- Recruiting
- Emory University School of Medicine- Human Genetics- Site Number : 840060
-
-
Illinois
-
Aurora, Illinois, United States, 80045
- Recruiting
- University of Colorado at Denver Genetics- Site Number : 840068
-
Chicago, Illinois, United States, 60612
- Recruiting
- Rush University Medical Center Genetics- Site Number : 840079
-
Chicago, Illinois, United States, 60611
- Recruiting
- Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840013
-
-
Indiana
-
Indianapolis, Indiana, United States, 46202
- Recruiting
- Indianapolis University School of Medicine- Site Number : 840027
-
-
Iowa
-
Iowa City, Iowa, United States, 52242
- Recruiting
- University of Iowa- Site Number : 840032
-
-
Kansas
-
Kansas City, Kansas, United States, 66160
- Recruiting
- University Of Kansas Medical Center- Site Number : 840071
-
-
Kentucky
-
Louisville, Kentucky, United States, 40202
- Completed
- University of Louisville - Health Sciences Center- Site Number : 840030
-
-
Louisiana
-
Baton Rouge, Louisiana, United States, 70809
- Recruiting
- Ochsner Health Center - Baton Rouge- Site Number : 840120
-
New Orleans, Louisiana, United States, 70112
- Completed
- Tulane University School of Medicine- Site Number : 840001
-
-
Maine
-
Portland, Maine, United States, 04102
- Recruiting
- Maine Medical Partners Pediatric Specialty Care- Site Number : 840064
-
-
Maryland
-
Baltimore, Maryland, United States, 21205
- Completed
- John Hopkins- Site Number : 840044
-
-
Massachusetts
-
Boston, Massachusetts, United States, 02114
- Recruiting
- Massachusetts General Hospital-Genetics- Site Number : 840062
-
Boston, Massachusetts, United States, 02115
- Recruiting
- Boston Children's Hospital - PIN- Site Number : 840092
-
Boston, Massachusetts, United States, 02115
- Recruiting
- Brigham & Women's Hospital- Site Number : 840103
-
Springfield, Massachusetts, United States, 01199
- Recruiting
- Baystate Medical Center- Site Number : 840002
-
-
Michigan
-
Ann Arbor, Michigan, United States, 48109
- Recruiting
- University of Michigan Pediatrics- Site Number : 840107
-
Detroit, Michigan, United States, 48201
- Recruiting
- Children's Hospital of Michigan- Site Number : 840066
-
Grand Rapids, Michigan, United States, 49525
- Recruiting
- Infusion Associates - Grand Rapids- Site Number : 840050
-
Grand Rapids, Michigan, United States, 49503
- Completed
- Corewell Health - Helen DeVos Children's Hospital (HDVCH)- Site Number : 840019
-
-
Minnesota
-
Minneapolis, Minnesota, United States, 55404
- Recruiting
- Children's Hospitals and Clinics of Minnesota- Site Number : 840114
-
Minneapolis, Minnesota, United States, 55404
- Completed
- Children's Hospitals and Clinics of Minnesota- Site Number : 840046
-
Minneapolis, Minnesota, United States, 55454
- Recruiting
- M Health Fairview University of Minnesota Medical Center - West Bank- Site Number : 840076
-
-
Missouri
-
Columbia, Missouri, United States, 65212
- Recruiting
- University of Missouri Health System Department of Genetics- Site Number : 840031
-
St Louis, Missouri, United States, 63110
- Recruiting
- Washington University- Site Number : 840100
-
-
Montana
-
Helena, Montana, United States, 59601
- Completed
- Shodair Children's Hospital- Site Number : 840090
-
-
Nebraska
-
Omaha, Nebraska, United States, 68198
- Recruiting
- University of Nebraska Medical Center- Site Number : 840084
-
-
Nevada
-
Las Vegas, Nevada, United States, 89109
- Recruiting
- Children's Specialty Center - Las Vegas- Site Number : 840008
-
-
New Jersey
-
Camden, New Jersey, United States
- Terminated
- Cooper Health Center- Site Number : 840098
-
Hackensack, New Jersey, United States, 07601
- Recruiting
- Joseph M. Sanzari Children's Hospital- Site Number : 840101
-
Morristown, New Jersey, United States, 07962
- Recruiting
- Atlantic Health System- Site Number : 840099
-
New Brunswick, New Jersey, United States, 08901
- Recruiting
- Saint Peter's University Hospital - New Brunswick- Site Number : 840016
-
Paterson, New Jersey, United States, 07503
- Recruiting
- St. Joseph's Children's Hospital- Site Number : 840057
-
-
New York
-
Huntington, New York, United States, 11743
- Recruiting
- NYU Langone Health - Perlmutter Cancer Center - Huntington- Site Number : 840040
-
New Hyde Park, New York, United States, 11042
- Recruiting
- Northwell Health- Site Number : 840102
-
New York, New York, United States, 10029
- Recruiting
- Icahn School of Medicine at Mount Sinai- Site Number : 840080
-
New York, New York, United States, 10029
- Recruiting
- Metropolitan Hospital Center- Site Number : 840110
-
Rochester, New York, United States, 14642
- Completed
- University of Rochester Medical Center- Site Number : 840105
-
Syracuse, New York, United States, 13210
- Recruiting
- SUNY Upstate Medical University - Site Number : 840052
-
Valhalla, New York, United States, 10595
- Recruiting
- New York Medical College- Site Number : 840039
-
-
North Carolina
-
Charlotte, North Carolina, United States, 28232
- Recruiting
- Carolinas Medical Center- Site Number : 840065
-
Durham, North Carolina, United States, 27710
- Recruiting
- Duke University Medical Center Genetics Dept- Site Number : 840045
-
-
Ohio
-
Cincinnati, Ohio, United States, 45229
- Recruiting
- Cincinnati Children's Hospital Medical Center (Cincinnati Children's Hospital)- Site Number : 840033
-
Cleveland, Ohio, United States, 44106
- Recruiting
- University Hospitals Cleveland Medical Center- Site Number : 840119
-
Cleveland, Ohio, United States, 44195
- Recruiting
- Cleveland Clinic - Cleveland- Site Number : 840048
-
Columbus, Ohio, United States, 43210
- Active, not recruiting
- Ohio State University Department of Genetics- Site Number : 840097
-
Columbus, Ohio, United States, 43205
- Recruiting
- Nationwide Children's Hospital- Site Number : 840091
-
Dublin, Ohio, United States, 43017
- Recruiting
- LSD Data Registry Site LLC- Site Number : 840094
-
-
Oregon
-
Portland, Oregon, United States, 97239
- Terminated
- Oregon Health and Scinece University- Site Number : 840038
-
Portland, Oregon, United States, 97239
- Recruiting
- Oregon Health & Science University (OHSU)- Site Number : 840116
-
-
Pennsylvania
-
Danville, Pennsylvania, United States, 17822
- Recruiting
- Geisinger Medical Center- Site Number : 840111
-
Hershey, Pennsylvania, United States, 17033
- Recruiting
- Penn State University Medical Center-Neurology- Site Number : 840104
-
Philadelphia, Pennsylvania, United States, 19104
- Recruiting
- Children's Hospital of Philadelphia HUP Medical Genetics- Site Number : 840089
-
Philadelphia, Pennsylvania, United States, 19104
- Recruiting
- Children's Hospital of Philadelphia- Site Number : 840034
-
Pittsburgh, Pennsylvania, United States, 15224
- Recruiting
- UPMC Children's Hospital of Pittsburgh- Site Number : 840023
-
-
Rhode Island
-
Providence, Rhode Island, United States, 02903
- Completed
- Rhode Island Hospital Genetics- Site Number : 840053
-
-
South Carolina
-
Greenville, South Carolina, United States, 29605
- Recruiting
- Greenwood Genetic Center - Greenville- Site Number : 840055
-
-
Tennessee
-
Nashville, Tennessee, United States, 37212
- Recruiting
- Vanderbilt University Medical Center Diagnostic Lab- Site Number : 840049
-
-
Texas
-
Dallas, Texas, United States, 75226
- Recruiting
- Baylor Institute of Metabolic Disease- Site Number : 840058
-
Fort Worth, Texas, United States, 76104
- Recruiting
- Cook Children's Health Care System- Site Number : 840024
-
-
Utah
-
Salt Lake City, Utah, United States, 84132
- Recruiting
- University of Utah Department of Medical Genetics- Site Number : 840043
-
-
Virginia
-
Charlottesville, Virginia, United States, 22908
- Completed
- University of Virginia School of Medicine-Pediatrics- Site Number : 840078
-
Fairfax, Virginia, United States, 22030
- Recruiting
- O & O Alpan- Site Number : 840025
-
Norfolk, Virginia, United States, 23507
- Completed
- Children's Hospital of The King's Daughters- Site Number : 840072
-
-
Washington
-
Seattle, Washington, United States, 98105
- Recruiting
- Seattle Children's Hospital- Site Number : 840028
-
Seattle, Washington, United States, 98195
- Recruiting
- University Of Washington Medical Center- Site Number : 840059
-
Tacoma, Washington, United States, 98405
- Recruiting
- Mary Bridge Children's Outpatient Center- Site Number : 840115
-
-
Wisconsin
-
Milwaukee, Wisconsin, United States, 53226
- Recruiting
- Children's Hospital of Wisconsin-Pediatrics- Site Number : 840054
-
-
-
-
-
Hanoi, Vietnam
- Recruiting
- Investigational Site Number : 154212
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
No
Sampling Method
Non-Probability Sample
Study Population
All patients with a confirmed diagnosis of Fabry disease are eligible for inclusion in the Registry.
For Fabry Pregnancy Sub-registry: It is recommended that pregnancy data be collected on eligible women regardless of infant enrollment. In the event of patients having multiple pregnancies, data collection for each individual pregnancy is encouraged for all women enrolled in this Sub-Registry.
Description
Inclusion Criteria
- Fabry Registry: All patients with a confirmed diagnosis of Fabry disease who have signed the informed consent and patient authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as a documented deficiency in plasma or leukocyte αGAL (alpha-galactosidase) enzyme activity and/or mutation(s) in the gene coding for αGAL.
Fabry Pregnancy Sub-registry:
Eligible women must:
- be enrolled in the Fabry Registry.
- be pregnant, or have been pregnant with appropriate medical documentation available.
- provide a signed informed consent and authorization form(s) to participate in the Sub-Registry prior to any Sub-Registry-related data collection being performed.
Exclusion Criteria Fabry Registry: There are no exclusion criteria. Fabry Pregnancy Sub-registry: There are no exclusion criteria.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Other
Cohorts and Interventions
Group / Cohort |
|---|
|
Patients with Fabry disease
No experimental intervention is given.
A patient with Fabry Disease will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician.
|
|
Pregnant women with confirmed diagnosis of Fabry
No experimental intervention is given.
Pregnant women with confirmed diagnosis of Fabry that are participating in the Fabry Registry and consented to participate in the Fabry Sub-registry, regardless of whether she is receiving disease-specific therapy (such as ERT with agalsidase beta) and irrespective of the commercial product with which she may be treated.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Fabry Registry: To evaluate the long-term safety and effectiveness of Fabrazyme®
Time Frame: 33 years
|
The primary purpose of this Registry is to describe the development and progression of Fabry disease in a representative global population.
As Fabry is not a well-described disease this longitudinal program has a wide variety of "primary" outcomes including antibody testing as well as complication outcomes (eg, QoL, cognitive testing) which are measured over time.
Additionally, as it is subject to what is collected by clinical sites at the time of visit it is unknown the amount of data that will be available for analyses.
|
33 years
|
|
Fabry Pregnancy Sub-registry: pregnancy outcomes, including complications and infant growth
Time Frame: 33 years
|
The primary objective of this Sub-registry is to track pregnancy outcomes, including complications and infant growth, in all women with Fabry disease during pregnancy, regardless of whether they receive disease-specific therapy, such as ERT with agalsidase beta. This Sub-registry augments the routine monitoring and data collection recommended by the Fabry Registry. The Sub-registry aims to collect patient assessments from the ante- and perinatal periods and postpartum follow-up. Neonatal assessments and periodic pediatric assessments will also be collected. |
33 years
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Fabry Register: Monitor factors associated with the efficacy of Fabry disease treatments
Time Frame: 33 years
|
A secondary endpoint is to monitor those factors associated with the efficacy of Fabry disease treatments.
|
33 years
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Study Director: Study Director, Genzyme, a Sanofi Company
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
- Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20.
- Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, Ortiz A, Patel MR, Sims K, Waldek S, Warnock DG, Wilcox WR. Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry. Mol Genet Metab. 2016 Sep;119(1-2):151-9. doi: 10.1016/j.ymgme.2016.06.007. Epub 2016 Jun 13.
- Germain DP, Brand E, Burlina A, Cecchi F, Garman SC, Kempf J, Laney DA, Linhart A, Marodi L, Nicholls K, Ortiz A, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A. Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. Mol Genet Genomic Med. 2018 Apr 12;6(4):492-503. doi: 10.1002/mgg3.389. Online ahead of print.
- Wilcox WR, Feldt-Rasmussen U, Martins AM, Ortiz A, Lemay RM, Jovanovic A, Germain DP, Varas C, Nicholls K, Weidemann F, Hopkin RJ. Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry. JIMD Rep. 2018;38:45-51. doi: 10.1007/8904_2017_28. Epub 2017 May 17.
- Wanner C, Feldt-Rasmussen U, Ortiz A. Plain language summary of a study looking at heart muscle thickness and kidney function in women with Fabry disease who received agalsidase beta treatment. Future Cardiol. 2022 Sep;18(10):755-763. doi: 10.2217/fca-2022-0047. Epub 2022 Sep 8.
- Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, Hopkin RJ, Jovanovic A, Linhart A, Maruti SS, Mauer M, Oliveira JP, Patel MR, Politei J, Waldek S, Wanner C, Yoo HW, Warnock DG. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase beta: data from the Fabry Registry. J Med Genet. 2016 Jul;53(7):495-502. doi: 10.1136/jmedgenet-2015-103486. Epub 2016 Mar 18.
- Hopkin RJ, Cabrera GH, Jefferies JL, Yang M, Ponce E, Brand E, Feldt-Rasmussen U, Germain DP, Guffon N, Jovanovic A, Kantola I, Karaa A, Martins AM, Tondel C, Wilcox WR, Yoo HW, Burlina AP, Mauer M. Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry. Mol Genet Metab. 2023 Feb;138(2):106967. doi: 10.1016/j.ymgme.2022.106967. Epub 2022 Nov 30.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
July 31, 2001
Primary Completion (Estimated)
January 31, 2034
Study Completion (Estimated)
January 31, 2034
Study Registration Dates
First Submitted
September 13, 2005
First Submitted That Met QC Criteria
September 13, 2005
First Posted (Estimated)
September 20, 2005
Study Record Updates
Last Update Posted (Actual)
April 28, 2026
Last Update Submitted That Met QC Criteria
April 27, 2026
Last Verified
April 1, 2026
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Cerebrovascular Disorders
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Vascular Diseases
- Cardiovascular Diseases
- Neoplasms
- Metabolism, Inborn Errors
- Genetic Diseases, Inborn
- Metabolic Diseases
- Neoplasms by Histologic Type
- Lipid Metabolism Disorders
- Genetic Diseases, X-Linked
- Lysosomal Storage Diseases
- Neoplasms, Vascular Tissue
- Brain Diseases, Metabolic, Inborn
- Brain Diseases, Metabolic
- Lipid Metabolism, Inborn Errors
- Lysosomal Storage Diseases, Nervous System
- Cerebral Small Vessel Diseases
- Sphingolipidoses
- Lipidoses
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Nutritional and Metabolic Diseases
- Fabry Disease
- Angiokeratoma
Other Study ID Numbers
- DIREGC07006
- AGAL19211 (Other Identifier: Genzyme, a Sanofi cmpany)
- U1111-1294-8298 (Registry Identifier: ICTRP)
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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