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Mucopolysaccharidosis I (MPS I) Registry

24. februar 2026 opdateret af: Genzyme, a Sanofi Company

Mucopolysaccharidosis I (MPS I) Registry er en løbende, observationsdatabase, der sporer resultaterne af patienter med MPS I. Dataene indsamlet af MPS I Registry vil give information til bedre at karakterisere den naturlige historie og progression af MPS I såvel som de kliniske responser fra patienter, der modtager enzymerstatningsterapi, såsom Aldurazyme (Rekombinant Human Alpha-L-Iduronidase) eller andre behandlingsformer.

Registrets formål er:

For at evaluere den langsigtede effektivitet og sikkerhed af Aldurazyme® (laronidase)
At karakterisere og beskrive MPS I-populationen som en helhed, herunder MPS I's variabilitet, progression og naturhistorie
At hjælpe det medicinske MPS I-miljø med udvikling af anbefalinger til overvågning af patienter og rapporter om patientresultater for at optimere patientbehandlingen

Studieoversigt

Status

Afsluttet

Betingelser

Mucopolysaccharidosis I (MPS I)

Detaljeret beskrivelse

MPS I Registry er et internationalt program; ud over de centrale kontaktoplysninger, der er angivet under overskriften "Placering", kan patienter kontakte:

I Asien-Stillehavsområdet - Vivian Liu, +65-6431-2548, Vivian.liu@genzyme.com
I Europa - +31-35-699-1232, europe@mpsiregistry.com
I Latinamerika - +617-591-5500, help@mpsiregistry.com
I Nordamerika - +617-591-5500, help@mpsiregistry.com

Undersøgelsestype

Observationel

Tilmelding (Faktiske)

1406

Kontakter og lokationer

Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.

Studiesteder

Argentina
- - Buenos Aires, Argentina, 1192
    - Investigational Site Number : 153032
  - San Luis, Argentina, 5700
    - Investigational Site Number : 153130
Australien
- New South Wales
  - Westmead, New South Wales, Australien, 2145
    - Investigational Site Number : 151069
Belgien
- - Brussels, Belgien, 1090
    - Investigational Site Number : 150944
  - Leuven, Belgien, 3000
    - Investigational Site Number : 151668
  - Roeselare, Belgien, 8800
    - Investigational Site Number : 154008
Brasilien
- - Rio de Janeiro, Brasilien, 22250-020
    - Instituto Fernandes Figueira - FIOCRUZ- Site Number : 076004
  - São Paulo, Brasilien, 04020-041
    - Instituto de Genética e Erros Inatos do Metabolismo- Site Number : 076002
- Rio Grande do Sul
  - Porto Alegre, Rio Grande do Sul, Brasilien, 90035-002
    - Private Practice - Dr. Fabiano Klaus- Site Number : 076001
- São Paulo
  - Campinas, São Paulo, Brasilien, 13034-685
    - Hospital e Maternidade Celso Pierro - PUC-Campinas- Site Number : 076007
Canada
- Alberta
  - Calgary, Alberta, Canada, T2E 7Z4
    - Investigational Site Number : 124014
  - Edmonton, Alberta, Canada, T6G 2B7
    - Investigational Site Number : 124002
- British Columbia
  - Vancouver, British Columbia, Canada, V6H 3N1
    - Investigational Site Number : 124011
- Manitoba
  - Winnipeg, Manitoba, Canada, R3A 1R9
    - Investigational Site Number : 124019
- Ontario
  - London, Ontario, Canada, N6A 5A5
    - Investigational Site Number : 124021
  - Ottawa, Ontario, Canada, K1K 4L2
    - Investigational Site Number : 124018
  - Toronto, Ontario, Canada, M5G 1X8
    - Investigational Site Number : 124006
- Quebec
  - Sherbrooke, Quebec, Canada, J1K 2R1
    - Investigational Site Number : 124001
Chile
- - Los Ángeles, Chile
    - Investigational Site Number : 152003
- Región del Biobío
  - Talcahuano, Región del Biobío, Chile, 2687000
    - Investigational Site Number : 152001
Colombia
- - Bogotá, Colombia
    - Investigational Site Number : 170001
Danmark
- - Copenhagen, Danmark, 2100
    - Investigational Site Number : 151229
Det Forenede Kongerige
- England
  - Birmingham, England, Det Forenede Kongerige, B4 6NH
    - Investigational Site Number : 154240
  - London, England, Det Forenede Kongerige, NW3 2QG
    - Investigational Site Number : 151123
- Glasgow City
  - Glasgow, Glasgow City, Det Forenede Kongerige, G51 4TF
    - Investigational Site Number : 152156
- London, City of
  - London, London, City of, Det Forenede Kongerige, WC1N 3BG
    - Investigational Site Number : 151646
  - London, London, City of, Det Forenede Kongerige, WC1N 3JH
    - Investigational Site Number : 150303
- Manchester
  - Salford, Manchester, Det Forenede Kongerige, M6 8HD
    - Investigational Site Number : 152361
- Missouri
  - Manchester, Missouri, Det Forenede Kongerige, M13 9WL
    - Investigational Site Number : 150455
Egypten
- - Cairo, Egypten, 11231
    - Investigational Site Number : 818002
  - Cairo, Egypten
    - Investigational Site Number : 818001
Filippinerne
- - Manila, Filippinerne, 1000
    - Investigational Site Number : 608001
Forenede Stater
- Arizona
  - Phoenix, Arizona, Forenede Stater, 85016
    - Phoenix Children's Hospital- Site Number : 840003
- Arkansas
  - Little Rock, Arkansas, Forenede Stater, 72202
    - Arkansas Children's Hospital- Site Number : 840109
- California
  - Los Angeles, California, Forenede Stater, 90027
    - Southern California Permanente Medical Group- Site Number : 840108
  - Los Angeles, California, Forenede Stater, 90033
    - USC Health Sciences Center Dept of Genetics- Site Number : 840082
  - Oakland, California, Forenede Stater, 94609
    - UCSF Benioff Children's Hospital - Oakland- Site Number : 840029
  - Orange, California, Forenede Stater, 92868
    - Children's Hospital of Orange County- Site Number : 840074
  - Palo Alto, California, Forenede Stater, 94305
    - Stanford Unviersity MC Dept of Genetics- Site Number : 840022
  - Sacramento, California, Forenede Stater, 95817
    - UC Davis MIND Institute- Site Number : 840010
  - San Diego, California, Forenede Stater, 92093
    - University of California at San Diego- Site Number : 840007
  - San Francisco, California, Forenede Stater
    - University of California at San Francisco- Site Number : 840051
- Colorado
  - Aurora, Colorado, Forenede Stater, 80045
    - Children's Hospital Colorado - Aurora- Site Number : 840069
  - Aurora, Colorado, Forenede Stater, 80045
    - University of Colorado at Denver Genetics Site Number : 840068
- Connecticut
  - New Haven, Connecticut, Forenede Stater, 06510
    - Yale University School of Medicine- Site Number : 840047
- District of Columbia
  - Washington D.C., District of Columbia, Forenede Stater, 20010
    - Children's National Medical Center - Washington- Site Number : 840067
- Florida
  - Gainesville, Florida, Forenede Stater, 32610
    - University of Florida Dept of Genetics- Site Number : 840083
  - Miami, Florida, Forenede Stater, 33136
    - University Of Miami SOM- Site Number : 840006
  - Tampa, Florida, Forenede Stater, 33612
    - Pediatric Endocrine Associates- Site Number : 840017
- Georgia
  - Decatur, Georgia, Forenede Stater, 30033
    - Emory University School of Medicine- Human Genetics- Site Number : 840060
- Illinois
  - Chicago, Illinois, Forenede Stater, 60611
    - Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011
  - Chicago, Illinois, Forenede Stater, 60612
    - Rush University Medical Center Genetics- Site Number : 840079
- Indiana
  - Indianapolis, Indiana, Forenede Stater, 46202
    - Indianapolis University School of Medicine- Site Number : 840027
- Iowa
  - Iowa City, Iowa, Forenede Stater, 52242
    - University of Iowa- Site Number : 840032
- Kentucky
  - Louisville, Kentucky, Forenede Stater, 40202
    - University of Louisville- Genetics- Site Number : 840030
- Maryland
  - Baltimore, Maryland, Forenede Stater
    - John Hopkins- Site Number : 840044
- Massachusetts
  - Boston, Massachusetts, Forenede Stater, 02114
    - Massachusetts General Hospital-Genetics- Site Number : 840062
  - Boston, Massachusetts, Forenede Stater, 2115
    - Boston Children's Hospital - PIN- Site Number : 840093
  - Springfield, Massachusetts, Forenede Stater, 01199
    - Baystate Medical Center- Site Number : 840002
- Michigan
  - Ann Arbor, Michigan, Forenede Stater, 48109
    - University of Michigan Pediatrics- Site Number : 840107
- Minnesota
  - Minneapolis, Minnesota, Forenede Stater, 55455
    - University of Minnesota Medical Center Pediatrics- Site Number : 840076
- Missouri
  - St Louis, Missouri, Forenede Stater, 63110
    - Washington University- Site Number : 840100
- Nebraska
  - Omaha, Nebraska, Forenede Stater, 68198
    - University of Nebraska Medical Center- Site Number : 840084
- Nevada
  - Las Vegas, Nevada, Forenede Stater, 89109
    - Children's Specialty Center - Las Vegas- Site Number : 840008
- New Jersey
  - Hackensack, New Jersey, Forenede Stater, 07601
    - Joseph M. Sanzari Children's Hospital- Site Number : 840101
  - New Brunswick, New Jersey, Forenede Stater, 08901
    - Saint Peter's University Hospital - New Brunswick- Site Number : 840016
- New York
  - Manhasset, New York, Forenede Stater, 11030
    - Northwell Health - Site Number : 840102
  - New York, New York, Forenede Stater, 10016
    - New York University School Of Medicine- Site Number : 840040
  - Syracuse, New York, Forenede Stater, 13210
    - State University of New York- Site Number : 840052
- North Carolina
  - Durham, North Carolina, Forenede Stater, 27710
    - Duke University Medical Center Genetics Dept- Site Number : 840037
- Ohio
  - Cincinnati, Ohio, Forenede Stater
    - Cincinnati Children's Hospital-Genetics- Site Number : 840041
  - Columbus, Ohio, Forenede Stater, 43205
    - Nationwide Children's Hospital- Site Number : 840091
- Oregon
  - Portland, Oregon, Forenede Stater, 97239
    - Oregon Health & Science University (OHSU)- Site Number : 840080
- Pennsylvania
  - Philadelphia, Pennsylvania, Forenede Stater, 19104
    - Children's Hospital of Philadelphia HUP Medical Genetics- Site Number : 840089
  - Philadelphia, Pennsylvania, Forenede Stater
    - Children's Hospital of Philadelphia- Site Number : 840034
  - Pittsburgh, Pennsylvania, Forenede Stater, 15224
    - University of Pittsburgh- Site Number : 840023
- Rhode Island
  - Providence, Rhode Island, Forenede Stater, 02903
    - Rhode Island Hospital Genetics- Site Number : 840053
- South Carolina
  - Greenville, South Carolina, Forenede Stater, 29605
    - Greenwood Genetic Center - Greenville- Site Number : 840055
- Texas
  - Dallas, Texas, Forenede Stater, 75226
    - Baylor Institute of Metabolic Disease- Site Number : 840058
- Utah
  - Salt Lake City, Utah, Forenede Stater, 84132
    - University of Utah Health Hospital- Site Number : 840092
- Virginia
  - Charlottesville, Virginia, Forenede Stater, 22908
    - University of Virginia School of Medicine-Pediatrics- Site Number : 840078
  - Norfolk, Virginia, Forenede Stater, 23507
    - Children's Hospital of The King's Daughters- Site Number : 840072
- Washington
  - Seattle, Washington, Forenede Stater, 98105
    - Seattle Children's Hospital- Site Number : 840028
  - Seattle, Washington, Forenede Stater, 98195
    - University of Washington Medical Center- Site Number : 840059
- Wisconsin
  - Milwaukee, Wisconsin, Forenede Stater, 53226
    - Children's Hospital of Wisconsin-Pediatrics- Site Number : 840054
Frankrig
- - Bordeaux, Frankrig, 33076
    - Investigational Site Number : 250004
  - Bron, Frankrig, 69677
    - Investigational Site Number : 250001
  - Marseille, Frankrig, 13885
    - Investigational Site Number : 250002
  - Paris, Frankrig, 75015
    - Investigational Site Number : 250003
  - Vandœuvre-lès-Nancy, Frankrig, 54511
    - Investigational Site Number : 250006
Holland
- - Amsterdam, Holland
    - Investigational Site Number : 151171
  - Rotterdam, Holland, 3015 CE
    - Investigational Site Number : 152029
Hong Kong
- - Kowloon, Hong Kong
    - Investigational Site Number : 344001
Indien
- - Ahmedabad, Indien, 380015
    - Investigational Site Number : 356003
  - Kolkata, Indien, 700017
    - Investigational Site Number : 356001
  - Vellore, Indien, 632004
    - Investigational Site Number : 356002
Indonesien
- - Jakarta, Indonesien
    - Investigational Site Number : 360001
Irland
- - Dublin, Irland, D01 F772
    - Investigational Site Number : 154161
Italien
- - Ancona, Italien, 60126
    - Investigational Site Number : 380002
  - Genova, Italien, 16147
    - Investigational Site Number : 380003
  - Napoli, Italien
    - Investigational Site Number : 380005
  - Padua, Italien, 35128
    - Investigational Site Number : 380008
- Milano
  - Cusano Milanino, Milano, Italien, 20095
    - Investigational Site Number : 380004
  - Milan, Milano, Italien, 20142
    - Investigational Site Number : 380007
- Roma
  - Rome, Roma, Italien, 00165
    - Investigational Site Number : 380006
Japan
- - Tokyo, Japan, 157-8535
    - Investigational Site Number : 392101
- Kochi
  - Nankoku, Kochi, Japan, 783-8505
    - Investigational Site Number : 392102
Kuwait
- - Kuwait City, Kuwait
    - Investigational Site Number : 154225
Libanon
- - Beirut, Libanon, 11072210
    - Investigational Site Number : 4220004
Malaysia
- - Kuala Lumpur, Malaysia, 50586
    - Investigational Site Number : 458001
  - Kuala Lumpur, Malaysia, 59100
    - Investigational Site Number : 458002
Pakistan
- - Lahore, Pakistan
    - Investigational Site Number : 154264
  - Lahore, Pakistan
    - Investigational Site Number : 154266
Polen
- - Warsaw, Polen, 04-730
    - Investigational Site Number : 150575
Portugal
- - Coimbra, Portugal, 3000-075
    - Investigational Site Number : 6200002
Rumænien
- - Cluj-Napoca, Rumænien, 400006
    - Investigational Site Number : 154177
Rusland
- - Moscow, Rusland, 119571
    - Investigational Site Number : 643001
  - Moscow, Rusland, 125412
    - Investigational Site Number : 643002
Saudi Arabien
- - Al Qaţīf, Saudi Arabien
    - Investigational Site Number : 682001
  - Mecca, Saudi Arabien, 24246
    - Investigational Site Number : 682004
Slovakiet
- - Bratislava, Slovakiet, 833 40
    - Investigational Site Number : 703001
Sverige
- - Stockholm, Sverige, 171 76
    - Investigational Site Number : 7520001
Sydkorea
- - Daejeon, Sydkorea
    - Investigational Site Number : 153191
  - Jeonnam, Sydkorea
    - Investigational Site Number : 153225
  - Seoul, Sydkorea
    - Investigational Site Number : 153212
  - Seoul, Sydkorea
    - Investigational Site Number : 153222
Taiwan
- - Chiayi City, Taiwan
    - Investigational Site Number : 154093
  - Kaohsiung City, Taiwan, 833
    - Investigational Site Number : 152246
  - Putz City, Chia-yi, Taiwan
    - Investigational Site Number : 151500
  - Taichung, Taiwan, 404
    - Investigational Site Number : 151179
  - Tainan, Taiwan, 710
    - Investigational Site Number : 152153
  - Taipei, Taiwan, 100
    - Investigational Site Number : 151182
  - Taipei, Taiwan, 104
    - Investigational Site Number : 152321
Thailand
- - Bangkok, Thailand, 10400
    - Investigational Site Number : 764002
  - Bangkok, Thailand, 10400
    - Investigational Site Number : 764003
  - Bangkok, Thailand, 10700
    - Investigational Site Number : 764004
  - Bangkok, Thailand
    - Investigational Site Number : 764001
Tjekkiet
- - Prague, Tjekkiet, 12808
    - Investigational Site Number : 150659
Tyskland
- - Hamburg, Tyskland, 20246
    - Investigational Site Number : 151368
  - Mainz, Tyskland, 55131
    - Investigational Site Number : 150031
Vietnam
- - Hanoi, Vietnam
    - Investigational Site Number : 154212

Deltagelseskriterier

Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.

Berettigelseskriterier

Aldre berettiget til at studere

Barn
Voksen
Ældre voksen

Tager imod sunde frivillige

Ingen

Prøveudtagningsmetode

Sandsynlighedsprøve

Studiebefolkning

Alle patienter med MPS I

Beskrivelse

Inklusionskriterier:

Alle patienter med en bekræftet diagnose MPS I er berettiget til inklusion. Bekræftet diagnose er defineret som: A. dokumenteret biokemiske beviser for en mangel i alfa (a)-L-iduronidase enzymaktivitet og/eller B. mutation(er) i genet, der koder for a-L-iduronidase, eller målbare kliniske tegn og symptomer på MPS I
For alle patienter skal der være en udfyldt patientautorisationsformular

Ekskluderingskriterier:

Ingen udelukkelseskriterier for deltagelse i MPS I Registry. BEMÆRK: Deltagelse i registeret udelukker ikke deltagelse i andre kliniske undersøgelser.

Studieplan

Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.

Hvordan er undersøgelsen tilrettelagt?

Design detaljer

Observationsmodeller: Kohorte
Tidsperspektiver: Andet

Hvad måler undersøgelsen?

Primære resultatmål

Resultatmål	Tidsramme
For at evaluere den langsigtede effektivitet af Aldurazyme Tidsramme: Cirka 17 år	Cirka 17 år

Samarbejdspartnere og efterforskere

Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.

Sponsor

Genzyme, a Sanofi Company

Efterforskere

Studieleder: Medical Monitor, Genzyme, a Sanofi Company

Publikationer og nyttige links

Den person, der er ansvarlig for at indtaste oplysninger om undersøgelsen, leverer frivilligt disse publikationer. Disse kan handle om alt relateret til undersøgelsen.

Generelle publikationer

Datoer for undersøgelser

Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.

Studer store datoer

Studiestart (Faktiske)

20. november 2003

Primær færdiggørelse (Faktiske)

31. december 2024

Studieafslutning (Faktiske)

31. december 2024

Datoer for studieregistrering

Først indsendt

2. september 2005

Først indsendt, der opfyldte QC-kriterier