Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
RECRUITING
9000 participants
OBSERVATIONAL
2001-07-31
2034-01-31
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
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.
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Keywords
Explore important study keywords that can help with search, categorization, and topic discovery.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
COHORT
OTHER
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
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.
No interventions assigned to this group
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.
No interventions assigned to this group
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* 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.
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Genzyme, a Sanofi Company
INDUSTRY
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Study Director
Role: STUDY_DIRECTOR
Genzyme, a Sanofi Company
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
University of Alabama Birmingham- Nephrology- Site Number : 840018
Birmingham, Alabama, United States
University of Alabama Birmingham- Nephrology- Site Number : 840073
Birmingham, Alabama, United States
Phoenix Children's Hospital- Site Number : 840003
Phoenix, Arizona, United States
University of Arizona- Site Number : 840015
Tucson, Arizona, United States
Arkansas Childrens Hospital- Site Number : 840109
Little Rock, Arkansas, United States
University of Arkansas for Medical Sciences- Site Number : 840113
Little Rock, Arkansas, United States
University of California at Irvine- Site Number : 840036
Irvine, California, United States
Southern California Permanente Medical Group- Site Number : 840108
Los Angeles, California, United States
USC Health Sciences Center Dept of Genetics- Site Number : 840082
Los Angeles, California, United States
UCLA School Of Medicine- Site Number : 840088
Los Angeles, California, United States
Children's Hospital Oakland- Site Number : 840029
Oakland, California, United States
Children's Hospital of Orange County- Site Number : 840074
Orange, California, United States
Stanford Unviersity MC Dept of Genetics- Site Number : 840022
Palo Alto, California, United States
UC Davis MIND Institute- Site Number : 840010
Sacramento, California, United States
Kaiser Permanente Hospital- Site Number : 840042
Sacramento, California, United States
University of California at San Diego- Site Number : 840007
San Diego, California, United States
University of California at San Francisco- Site Number : 840051
San Francisco, California, United States
Yale - Site Number : 840047
New Haven, Connecticut, United States
Children's National Medical Center- Site Number : 840067
Washington D.C., District of Columbia, United States
University Hematology Oncology- Site Number : 840075
Coral Springs, Florida, United States
University of Florida Dept of Genetics- Site Number : 840083
Gainesville, Florida, United States
University of Florida Pediatrics Genetics- Site Number : 840121
Jacksonville, Florida, United States
University Of Miami SOM- Site Number : 840006
Miami, Florida, United States
University of Florida-Genetics- Site Number : 840096
Tampa, Florida, United States
Emory University School of Medicine- Human Genetics- Site Number : 840060
Decatur, Georgia, United States
University of Colorado at Denver Genetics- Site Number : 840068
Aurora, Illinois, United States
Ann and Robert Lurie Children's Hospital- Site Number : 840013
Chicago, Illinois, United States
Rush University Medical Center Genetics- Site Number : 840079
Chicago, Illinois, United States
Indianapolis University School of Medicine- Site Number : 840027
Indianapolis, Indiana, United States
University of Iowa- Site Number : 840032
Iowa City, Iowa, United States
University of Kansas Medical Center- Site Number : 840071
Kansas City, Kansas, United States
University of Louisville- Genetics- Site Number : 840030
Louisville, Kentucky, United States
Ochsner Medical Center- Site Number : 840120
Baton Rouge, Louisiana, United States
Tulane University Medical Center- Site Number : 840001
New Orleans, Louisiana, United States
Maine Medical Center Pediatrics- Site Number : 840064
Portland, Maine, United States
John Hopkins- Site Number : 840044
Baltimore, Maryland, United States
Massachusetts General Hospital-Genetics- Site Number : 840062
Boston, Massachusetts, United States
Boston Children's Hospital - PIN- Site Number : 840092
Boston, Massachusetts, United States
Brigham and Women's Hospital-Neurology- Site Number : 840103
Boston, Massachusetts, United States
Baystate Health- Site Number : 840002
Springfield, Massachusetts, United States
University of Michigan Pediatrics- Site Number : 840107
Ann Arbor, Michigan, United States
Children's Hospital of Michigan- Site Number : 840066
Detroit, Michigan, United States
Spectrum for Health- Site Number : 840019
Grand Rapids, Michigan, United States
Infusion Associates- Site Number : 840050
Grand Rapids, Michigan, United States
Children's Hospital and Clinics of Minnesota- Site Number : 840046
Minneapolis, Minnesota, United States
Children's Hospitals and Clinics of Minnesota- Site Number : 840114
Minneapolis, Minnesota, United States
University of Minnesota Medical Center Pediatrics- Site Number : 840076
Minneapolis, Minnesota, United States
University of Missouri Health System Department of Genetics- Site Number : 840031
Columbia, Missouri, United States
Washington University of St. Louis- Site Number : 840100
St Louis, Missouri, United States
Shodair Children's Hospital- Site Number : 840090
Helena, Montana, United States
University of Nebraska Medical Center- Pediatrics- Site Number : 840084
Omaha, Nebraska, United States
Children's Specialty Center of Nevada- Site Number : 840008
Las Vegas, Nevada, United States
Cooper Health Center- Site Number : 840098
Camden, New Jersey, United States
Joseph M. Sanzari Children's Hospital- Site Number : 840101
Hackensack, New Jersey, United States
Atlantic Health System- Site Number : 840099
Morristown, New Jersey, United States
St. Peter's University Hospital- Site Number : 840016
New Brunswick, New Jersey, United States
St. Joseph's Children's Hospital- Site Number : 840057
Paterson, New Jersey, United States
Northwell Health- Site Number : 840102
Manhasset, New York, United States
New York University School Of Medicine- Site Number : 840040
New York, New York, United States
Metropolitan Hospital Center- Site Number : 840110
New York, New York, United States
Icahn School of Medicine at Mount Sinai- Site Number : 840080
New York, New York, United States
University of Rochester Medical Center SOM- Site Number : 840105
Rochester, New York, United States
State University of New York- Site Number : 840052
Syracuse, New York, United States
New York Medical College- Site Number : 840039
Valhalla, New York, United States
Carolinas Medical Center- Site Number : 840065
Charlotte, North Carolina, United States
Duke University Medical Center Genetics Dept- Site Number : 840045
Durham, North Carolina, United States
Cincinnati Children's Hospital-Genetics- Site Number : 840033
Cincinnati, Ohio, United States
University Hospitals Cleveland Medical Center- Site Number : 840119
Cleveland, Ohio, United States
Cleveland Clinic Foundation Pediatrics- Site Number : 840048
Cleveland, Ohio, United States
Nationwide Children's Hospital - PIN- Site Number : 840091
Columbus, Ohio, United States
Ohio State University Department of Genetics- Site Number : 840097
Columbus, Ohio, United States
LSD Data Registry Site LLC- Site Number : 840094
Dublin, Ohio, United States
Oregon Health & Science University (OHSU)- Site Number : 840116
Portland, Oregon, United States
Oregon Health and Scinece University- Site Number : 840038
Portland, Oregon, United States
Geisinger- Site Number : 840111
Danville, Pennsylvania, United States
Penn State University Medical Center-Neurology- Site Number : 840104
Hershey, Pennsylvania, United States
Children's Hospital of Philadelphia HUP Medical Genetics- Site Number : 840089
Philadelphia, Pennsylvania, United States
Children's Hospital of Philadelphia- Site Number : 840034
Philadelphia, Pennsylvania, United States
University of Pittsburgh- Site Number : 840023
Pittsburgh, Pennsylvania, United States
Rhode Island Hospital Genetics- Site Number : 840053
Providence, Rhode Island, United States
Greenwood Genetcs- Site Number : 840055
Greenville, South Carolina, United States
Vanderbilt University Hospital-Pediatrics- Site Number : 840049
Nashville, Tennessee, United States
Baylor Research Center- Site Number : 840058
Dallas, Texas, United States
Cook Children's Health Care System- Site Number : 840024
Fort Worth, Texas, United States
University of Utah Department of Medical Genetics- Site Number : 840043
Salt Lake City, Utah, United States
University of Virginia School of Medicine-Pediatrics- Site Number : 840078
Charlottesville, Virginia, United States
O&O Alpan, LLC- Site Number : 840025
Fairfax, Virginia, United States
Children's Hospital of the Kings Daughters- Site Number : 840072
Norfolk, Virginia, United States
Seattle Children's Hospital- Site Number : 840028
Seattle, Washington, United States
University Of Washington Medical Center- Site Number : 840059
Seattle, Washington, United States
Mary Bridge Children's Outpatient Center- Site Number : 840115
Tacoma, Washington, United States
Children's Hospital of Wisconsin-Pediatrics- Site Number : 840054
Milwaukee, Wisconsin, United States
Investigational Site Number : 153280
Berazategui, Buenos Aires, Argentina
Investigational Site Number : 153260
Caba, Buenos Aires, Buenos Aires, Argentina
Investigational Site Number : 153032
Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina
Investigational Site Number : 153250
San Isidro, Buenos Aires, Buenos Aires, Argentina
Investigational Site Number : 153194
Catamarca, Catamarca Province, Argentina
Investigational Site Number : 153172
Buenos Aires, , Argentina
Investigational Site Number : 153130
Buenos Aires, , Argentina
Investigational Site Number : 032005
La Rioja, , Argentina
Investigational Site Number : 153270
La Rioja Province, , Argentina
Investigational Site Number : 032004
Santa Fe, , Argentina
Investigational Site Number : 036013
Westmead, New South Wales, Australia
Investigational Site Number : 151069
Westmead, New South Wales, Australia
Investigational Site Number : 153063
Brisbane, Queensland, Australia
Investigational Site Number : 151002
Adelaide, South Australia, Australia
Investigational Site Number : 153040
Parkville, Victoria, Australia
Investigational Site Number : 153090
Perth, Western Australia, Australia
Investigational Site Number : 150722
Antwerp, , Belgium
Investigational Site Number : 153133
Antwerp, , Belgium
Investigational Site Number : 153001
Brussels, , Belgium
Investigational Site Number : 0560008
Brussels, , Belgium
Investigational Site Number : 150517
Brussels, , Belgium
Investigational Site Number : 151668
Leuven, , Belgium
Investigational Site Number : 154275
Liège, , Belgium
Investigational Site Number : 153100
Seraing, , Belgium
Clínica Senhor do Bonfim LTDA- Site Number : 076008
Feira de Santana, Estado de Bahia, Brazil
Medicordis- Site Number : 076009
Brasília, Federal District, Brazil
Hospital Geral e Maternidade de Cuiabá- Site Number : 076006
Cuiabá, Mato Grosso, Brazil
CTDR - Centro de Tratamento de Doenças Renais EIRELI- Site Number : 076007
Uberlândia, Minas Gerais, Brazil
Instituto do Rim do Paraná- Site Number : 076004
Curitiba, Paraná, Brazil
Instituto de Medicina Integral Professor Fernando Figueira - IMIP - Site Number : 076005
Recife, Pernambuco, Brazil
Saúde Center Clínica - Clínica Médica Nossa Senhora de Fátima - Site Number : 076002
Tapejara, Rio Grande do Sul, Brazil
Hospital Universitário Professor Polydoro Ernani de São Thiago - UFSC- Site Number : 076012
Florianópolis, Santa Catarina, Brazil
Hospital e Maternidade Celso Pierro - PUC-Campinas- Site Number : 076013
Campinas, São Paulo, Brazil
Serviço de Terapia Renal de Ourinhos- Site Number : 076011
Ourinhos, São Paulo, Brazil
Instituto de Genética e Erros Inatos do Metabolismo- Site Number : 076001
São Paulo, , Brazil
Investigational Site Number : 153169
Sofia, , Bulgaria
Investigational Site Number : 100001
Sofia, , Bulgaria
Investigational Site Number : 124014
Calgary, Alberta, Canada
Investigational Site Number : 124002
Edmonton, Alberta, Canada
Investigational Site Number : 124010
Vancouver, British Columbia, Canada
Investigational Site Number : 124011
Vancouver, British Columbia, Canada
Investigational Site Number : 124019
Winnipeg, Manitoba, Canada
Investigational Site Number : 124022
Moncton, New Brunswick, Canada
Investigational Site Number : 124023
St. John's, Newfoundland and Labrador, Canada
Investigational Site Number : 124008
Halifax, Nova Scotia, Canada
Investigational Site Number : 124005
Kingston, Ontario, Canada
Investigational Site Number : 124021
London, Ontario, Canada
Investigational Site Number : 124006
Toronto, Ontario, Canada
Investigational Site Number : 124009
Toronto, Ontario, Canada
Investigational Site Number : 124013
Montreal, Quebec, Canada
Investigational Site Number : 124001
Sherbrooke, Quebec, Canada
Investigational Site Number : 152004
Antofagasta, , Chile
Investigational Site Number : 152001
Coquimbo, , Chile
Investigational Site Number : 152003
Iquique, , Chile
Investigational Site Number : 152002
Santiago, , Chile
Investigational Site Number : 152005
Vallenar, , Chile
Investigational Site Number : 153165
Beijing, , China
Investigational Site Number : 1560003
Hangzhou, , China
Investigational Site Number : 1560002
Jinan, , China
Investigational Site Number : 1560004
Nanjing, , China
Investigational Site Number : 1560001
Shanghai, , China
Investigational Site Number : 153163
Shanghai, , China
Investigational Site Number : 170001
Bogotá, , Colombia
Investigational Site Number : 1910001
Rijeka, , Croatia
Investigational Site Number : 1910002
Zagreb, , Croatia
Investigational Site Number : 153126
Prague, , Czechia
Investigational Site Number : 153041
Copenhagen, , Denmark
Investigational Site Number : 151229
København Ø, , Denmark
Investigational Site Number : 153106
Tartu, , Estonia
Investigational Site Number : 153024
Turku, , Finland
Investigational Site Number : 250005
Bordeaux, , France
Investigational Site Number : 250002
Bron, , France
Investigational Site Number : 250001
Garches, , France
Investigational Site Number : 250007
Lille, , France
Investigational Site Number : 250004
Saint-Priest-en-Jarez, , France
Investigational Site Number : 250009
Strasbourg, , France
Investigational Site Number : 153013
Berlin, , Germany
Investigational Site Number : 154150
Giessen, , Germany
Investigational Site Number : 153147
Münster, , Germany
Investigational Site Number : 153011
Würzburg, , Germany
Investigational Site Number : 344001
Kowloon, , Hong Kong
Investigational Site Number : 3480002
Budapest, , Hungary
Investigational Site Number : 3480003
Létavértes, , Hungary
Investigational Site Number : 3480005
Pécs, , Hungary
Investigational Site Number : 3480004
Sopron, , Hungary
Investigational Site Number : 356003
Ahmedabad, , India
Investigational Site Number : 356001
Kolkata, , India
Investigational Site Number : 3560004
Secunderabad, , India
Investigational Site Number : 356002
Vellore, , India
Investigational Site Number : 360001
Jakarta, , Indonesia
Investigational Site Number : 380002
Bassano del Grappa, , Italy
Investigational Site Number : 380019
Bologna, , Italy
Investigational Site Number : 380004
Florence, , Italy
Investigational Site Number : 380013
Florence, , Italy
Investigational Site Number : 380005
Genova, , Italy
Investigational Site Number : 380009
Milan, , Italy
Investigational Site Number : 380006
Milan, , Italy
Investigational Site Number : 380003
Modena, , Italy
Investigational Site Number : 380010
Monza, , Italy
Investigational Site Number : 380008
Napoli, , Italy
Investigational Site Number : 380007
Rimini, , Italy
Investigational Site Number : 380012
Roma, , Italy
Investigational Site Number : 380011
Torino, , Italy
Investigational Site Number : 380001
Udine, , Italy
Investigational Site Number : 380014
Vittoria, , Italy
Investigational Site Number : 392007
Kobe, Hyōgo, Japan
Investigational Site Number : 153201
Nangoku-shi, Kochi, Japan
Investigational Site Number : 153205
Abeno-ku, Osaka, Japan
Investigational Site Number : 153217
Chiba, , Japan
Investigational Site Number : 392006
Niigata, , Japan
Investigational Site Number : 153204
Tokyo, , Japan
Investigational Site Number : 154244
Vilnius, , Lithuania
Investigational Site Number : 154652
Vilnius, , Lithuania
Investigational Site Number : 458002
Kuala Lumpur, , Malaysia
Investigational Site Number : 458001
Kuala Pahang, , Malaysia
Investigational Site Number : 151171
Amsterdam, , Netherlands
Investigational Site Number : 153004
Amsterdam, , Netherlands
Investigational Site Number : 153141
Bergen, , Norway
Investigational Site Number : 604002
Callao, , Peru
Investigational Site Number : 608001
Manila, , Philippines
Investigational Site Number : 150575
Warsaw, , Poland
Investigational Site Number : 620005
Lisbon, , Portugal
Investigational Site Number : 620001
Porto, , Portugal
Investigational Site Number : 154099
Bucharest, , Romania
Investigational Site Number : 154164
Bucharest, , Romania
Investigational Site Number : 153081
Cluj-Napoca, , Romania
Investigational Site Number : 643001
Moscow, , Russia
Investigational Site Number : 643003
Nizhny Novgorod, , Russia
Investigational Site Number : 643002
Saint-Peterburg, , Russia
Investigational Site Number : 682002
Al Mubarraz, , Saudi Arabia
Investigational Site Number : 6880001
Novi Sad, , Serbia
Investigational Site Number : 702001
Singapore, , Singapore
Investigational Site Number : 703001
Bratislava, , Slovakia
Investigational Site Number : 705001
Slovenj Gradec, , Slovenia
Investigational Site Number : 153178
Yangsan, Gyeongsangnam-do, South Korea
Investigational Site Number : 154208
Yangsan, Gyeongsangnam-do, South Korea
Investigational Site Number : 157176
Yangsan, Gyeongsangnam-do, South Korea
Investigational Site Number : 153180
Seoul, Seoul-teukbyeolsi, South Korea
Investigational Site Number : 153196
Seoul, Seoul-teukbyeolsi, South Korea
Investigational Site Number : 154246
Busan, , South Korea
Investigational Site Number : 153191
Daejeon, , South Korea
Investigational Site Number : 153228
Jeju City, , South Korea
Investigational Site Number : 153192
Seoul, , South Korea
Investigational Site Number : 151149
Seoul, , South Korea
Investigational Site Number : 153188
Seoul, , South Korea
Investigational Site Number : 153212
Seoul, , South Korea
Investigational Site Number : 153222
Seoul, , South Korea
Investigational Site Number : 154273
Suwon, , South Korea
Investigational Site Number : 154146
A Coruña, A Coruña [La Coruña], Spain
Investigational Site Number : 154159
A Coruña, A Coruña [La Coruña], Spain
Investigational Site Number : 153237
Barcelona, Barcelona [Barcelona], Spain
Investigational Site Number : 154147
Barcelona, Barcelona [Barcelona], Spain
Investigational Site Number : 154135
Barakaldo, Basque Country, Spain
Investigational Site Number : 154204
Barcelona, Catalunya [Cataluña], Spain
Investigational Site Number : 153213
Vigo, Pontevedra [Pontevedra], Spain
Investigational Site Number : 154136
Tarragona, Tarragona [Tarragona], Spain
Investigational Site Number : 153067
Barcelona, , Spain
Investigational Site Number : 153077
Barcelona, , Spain
Investigational Site Number : 154123
Barcelona, , Spain
Investigational Site Number : 153050
Gothenburg, , Sweden
Investigational Site Number : 151484
Stockholm, , Sweden
Investigational Site Number : 151500
Chiayi City, , Taiwan
Investigational Site Number : 154093
Chiayi City, , Taiwan
Investigational Site Number : 152152
Hualien City, , Taiwan
Investigational Site Number : 152244
Kaohsiung City, , Taiwan
Investigational Site Number : 153088
Kaohsiung City, , Taiwan
Investigational Site Number : 152246
Kaohsiung City, , Taiwan
Investigational Site Number : 151534
New Taipei City, , Taiwan
Investigational Site Number : 151179
Taichung, , Taiwan
Investigational Site Number : 151181
Taichung, , Taiwan
Investigational Site Number : 153248
Tainan, , Taiwan
Investigational Site Number : 152153
Tainan, , Taiwan
Investigational Site Number : 151182
Taipei, , Taiwan
Investigational Site Number : 152321
Taipei, , Taiwan
Investigational Site Number : 152226
Taipei, , Taiwan
Investigational Site Number : 153158
Tao Yuan County, , Taiwan
Investigational Site Number : 764003
Bangkok, , Thailand
Investigational Site Number : 764004
Bangkok, , Thailand
Investigational Site Number : 764001
Bangkok, , Thailand
Investigational Site Number : 764005
Khon Kaen, , Thailand
Investigational Site Number : 151340
Cambridge, Cambridgeshire, United Kingdom
Investigational Site Number : 150303
London, London, City of, United Kingdom
Investigational Site Number : 152361
Salford, Manchester, United Kingdom
Investigational Site Number : 150455
Manchester, Missouri, United Kingdom
Investigational Site Number : 154196
Belfast, , United Kingdom
Investigational Site Number : 152287
Birmingham, , United Kingdom
Investigational Site Number : 151123
London, , United Kingdom
Investigational Site Number : 151646
London, , United Kingdom
Investigational Site Number : 154212
Hanoi, , Vietnam
Countries
Review the countries where the study has at least one active or historical site.
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Fabry Registry HelpLine
Role: CONTACT
Phone: 617-591-5500
References
Explore related publications, articles, or registry entries linked to this study.
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.
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.
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.
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.
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.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
AGAL19211
Identifier Type: OTHER
Identifier Source: secondary_id
U1111-1294-8298
Identifier Type: REGISTRY
Identifier Source: secondary_id
DIREGC07006
Identifier Type: -
Identifier Source: org_study_id