Mucopolysaccharidosis I (MPS I) Registry

NCT00144794 | Completed

• 2 other identifiers: DIREGC07008U1111-1294-8266
• Study Type: observational
• Target: 1,406
• Locations: 37 countries
• Sites: 141

Brief Summary

The Mucopolysaccharidosis I (MPS I) Registry is an ongoing, observational database that tracks the outcomes of patients with MPS I. The data collected by the MPS I Registry will provide information to better characterize the natural history and progression of MPS I as well as the clinical responses of patients receiving enzyme replacement therapy, such as Aldurazyme (Recombinant Human Alpha-L-Iduronidase), or other treatment modalities. The objectives of the Registry are:

• To evaluate the long-term effectiveness and safety of Aldurazyme® (laronidase)
• To characterize and describe the MPS I population as a whole, including the variability, progression, and natural history of MPS I
• To help the MPS I medical community with the development of recommendations for monitoring patients and reports on patient outcomes to optimize patient care

Conditions

Mucopolysaccharidosis I (MPS I)

Keywords

Hurler's Syndrome; Hurler-Scheie Syndrome; Scheie Syndrome

Outcome Measures

Primary Outcomes (1)

• To evaluate the long-term effectiveness of Aldurazyme

  Approximately 17 Years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

All Patients with MPS I

You may qualify if:

• For all patients there should be a completed patient authorization form

Sponsors & Collaborators

• Genzyme, a Sanofi Company: lead

Study Sites (141)

Phoenix Children's Hospital- Site Number : 840003

Phoenix, Arizona, 85016, United States

Location

Arkansas Children's Hospital- Site Number : 840109

Little Rock, Arkansas, 72202, United States

Location

Southern California Permanente Medical Group- Site Number : 840108

Los Angeles, California, 90027, United States

Location

USC Health Sciences Center Dept of Genetics- Site Number : 840082

Los Angeles, California, 90033, United States

Location

UCSF Benioff Children's Hospital - Oakland- Site Number : 840029

Oakland, California, 94609, United States

Location

Children's Hospital of Orange County- Site Number : 840074

Orange, California, 92868, United States

Location

Stanford Unviersity MC Dept of Genetics- Site Number : 840022

Palo Alto, California, 94305, United States

Location

UC Davis MIND Institute- Site Number : 840010

Sacramento, California, 95817, United States

Location

University of California at San Diego- Site Number : 840007

San Diego, California, 92093, United States

Location

University of California at San Francisco- Site Number : 840051

San Francisco, California, United States

Location

Children's Hospital Colorado - Aurora- Site Number : 840069

Aurora, Colorado, 80045, United States

Location

University of Colorado at Denver Genetics Site Number : 840068

Aurora, Colorado, 80045, United States

Location

Yale University School of Medicine- Site Number : 840047

New Haven, Connecticut, 06510, United States

Location

Children's National Medical Center - Washington- Site Number : 840067

Washington D.C., District of Columbia, 20010, United States

Location

University of Florida Dept of Genetics- Site Number : 840083

Gainesville, Florida, 32610, United States

Location

University Of Miami SOM- Site Number : 840006

Miami, Florida, 33136, United States

Location

Pediatric Endocrine Associates- Site Number : 840017

Tampa, Florida, 33612, United States

Location

Emory University School of Medicine- Human Genetics- Site Number : 840060

Decatur, Georgia, 30033, United States

Location

Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011

Chicago, Illinois, 60611, United States

Location

Rush University Medical Center Genetics- Site Number : 840079

Chicago, Illinois, 60612, United States

Location

Indianapolis University School of Medicine- Site Number : 840027

Indianapolis, Indiana, 46202, United States

Location

University of Iowa- Site Number : 840032

Iowa City, Iowa, 52242, United States

Location

University of Louisville- Genetics- Site Number : 840030

Louisville, Kentucky, 40202, United States

Location

John Hopkins- Site Number : 840044

Baltimore, Maryland, United States

Location

Massachusetts General Hospital-Genetics- Site Number : 840062

Boston, Massachusetts, 02114, United States

Location

Boston Children's Hospital - PIN- Site Number : 840093

Boston, Massachusetts, 2115, United States

Location

Baystate Medical Center- Site Number : 840002

Springfield, Massachusetts, 01199, United States

Location

University of Michigan Pediatrics- Site Number : 840107

Ann Arbor, Michigan, 48109, United States

Location

University of Minnesota Medical Center Pediatrics- Site Number : 840076

Minneapolis, Minnesota, 55455, United States

Location

Washington University- Site Number : 840100

St Louis, Missouri, 63110, United States

Location

University of Nebraska Medical Center- Site Number : 840084

Omaha, Nebraska, 68198, United States

Location

Children's Specialty Center - Las Vegas- Site Number : 840008

Las Vegas, Nevada, 89109, United States

Location

Joseph M. Sanzari Children's Hospital- Site Number : 840101

Hackensack, New Jersey, 07601, United States

Location

Saint Peter's University Hospital - New Brunswick- Site Number : 840016

New Brunswick, New Jersey, 08901, United States

Location

Northwell Health - Site Number : 840102

Manhasset, New York, 11030, United States

Location

New York University School Of Medicine- Site Number : 840040

New York, New York, 10016, United States

Location

State University of New York- Site Number : 840052

Syracuse, New York, 13210, United States

Location

Duke University Medical Center Genetics Dept- Site Number : 840037

Durham, North Carolina, 27710, United States

Location

Cincinnati Children's Hospital-Genetics- Site Number : 840041

Cincinnati, Ohio, United States

Location

Nationwide Children's Hospital- Site Number : 840091

Columbus, Ohio, 43205, United States

Location

Oregon Health & Science University (OHSU)- Site Number : 840080

Portland, Oregon, 97239, United States

Location

Children's Hospital of Philadelphia HUP Medical Genetics- Site Number : 840089

Philadelphia, Pennsylvania, 19104, United States

Location

Children's Hospital of Philadelphia- Site Number : 840034

Philadelphia, Pennsylvania, United States

Location

University of Pittsburgh- Site Number : 840023

Pittsburgh, Pennsylvania, 15224, United States

Location

Rhode Island Hospital Genetics- Site Number : 840053

Providence, Rhode Island, 02903, United States

Location

Greenwood Genetic Center - Greenville- Site Number : 840055

Greenville, South Carolina, 29605, United States

Location

Baylor Institute of Metabolic Disease- Site Number : 840058

Dallas, Texas, 75226, United States

Location

University of Utah Health Hospital- Site Number : 840092

Salt Lake City, Utah, 84132, United States

Location

University of Virginia School of Medicine-Pediatrics- Site Number : 840078

Charlottesville, Virginia, 22908, United States

Location

Children's Hospital of The King's Daughters- Site Number : 840072

Norfolk, Virginia, 23507, United States

Location

Seattle Children's Hospital- Site Number : 840028

Seattle, Washington, 98105, United States

Location

University Of Washington Medical Center- Site Number : 840059

Seattle, Washington, 98195, United States

Location

Children's Hospital of Wisconsin-Pediatrics- Site Number : 840054

Milwaukee, Wisconsin, 53226, United States

Location

Investigational Site Number : 153032

Buenos Aires, 1192, Argentina

Location

Investigational Site Number : 153130

San Luis, 5700, Argentina

Location

Investigational Site Number : 151069

Westmead, New South Wales, 2145, Australia

Location

Investigational Site Number : 150944

Brussels, 1090, Belgium

Location

Investigational Site Number : 151668

Leuven, 3000, Belgium

Location

Investigational Site Number : 154008

Roeselare, 8800, Belgium

Location

Private Practice - Dr. Fabiano Klaus- Site Number : 076001

Porto Alegre, Rio Grande do Sul, 90035-002, Brazil

Location

Hospital e Maternidade Celso Pierro - PUC-Campinas- Site Number : 076007

Campinas, São Paulo, 13034-685, Brazil

Location

Instituto Fernandes Figueira - FIOCRUZ- Site Number : 076004

Rio de Janeiro, 22250-020, Brazil

Location

Instituto de Genética e Erros Inatos do Metabolismo- Site Number : 076002

São Paulo, 04020-041, Brazil

Location

Investigational Site Number : 124014

Calgary, Alberta, T2E 7Z4, Canada

Location

Investigational Site Number : 124002

Edmonton, Alberta, T6G 2B7, Canada

Location

Investigational Site Number : 124011

Vancouver, British Columbia, V6H 3N1, Canada

Location

Investigational Site Number : 124019

Winnipeg, Manitoba, R3A 1R9, Canada

Location

Investigational Site Number : 124021

London, Ontario, N6A 5A5, Canada

Location

Investigational Site Number : 124018

Ottawa, Ontario, K1K 4L2, Canada

Location

Investigational Site Number : 124006

Toronto, Ontario, M5G 1X8, Canada

Location

Investigational Site Number : 124001

Sherbrooke, Quebec, J1K 2R1, Canada

Location

Investigational Site Number : 152001

Talcahuano, Región del Biobío, 2687000, Chile

Location

Investigational Site Number : 152003

Los Ángeles, Chile

Location

Investigational Site Number : 170001

Bogotá, Colombia

Location

Investigational Site Number : 150659

Prague, 12808, Czechia

Location

Investigational Site Number : 151229

Copenhagen, 2100, Denmark

Location

Investigational Site Number : 818002

Cairo, 11231, Egypt

Location

Investigational Site Number : 818001

Cairo, Egypt

Location

Investigational Site Number : 250004

Bordeaux, 33076, France

Location

Investigational Site Number : 250001

Bron, 69677, France

Location

Investigational Site Number : 250002

Marseille, 13885, France

Location

Investigational Site Number : 250003

Paris, 75015, France

Location

Investigational Site Number : 250006

Vandœuvre-lès-Nancy, 54511, France

Location

Investigational Site Number : 151368

Hamburg, 20246, Germany

Location

Investigational Site Number : 150031

Mainz, 55131, Germany

Location

Investigational Site Number : 344001

Kowloon, Hong Kong

Location

Investigational Site Number : 356003

Ahmedabad, 380015, India

Location

Investigational Site Number : 356001

Kolkata, 700017, India

Location

Investigational Site Number : 356002

Vellore, 632004, India

Location

Investigational Site Number : 360001

Jakarta, Indonesia

Location

Investigational Site Number : 154161

Dublin, D01 F772, Ireland

Location

Investigational Site Number : 380004

Cusano Milanino, Milano, 20095, Italy

Location

Investigational Site Number : 380007

Milan, Milano, 20142, Italy

Location

Investigational Site Number : 380006

Rome, Roma, 00165, Italy

Location

Investigational Site Number : 380002

Ancona, 60126, Italy

Location

Investigational Site Number : 380003

Genova, 16147, Italy

Location

Investigational Site Number : 380005

Naples, Italy

Location

Investigational Site Number : 380008

Padua, 35128, Italy

Location

Investigational Site Number : 392102

Nankoku, Kochi, 783-8505, Japan

Location

Investigational Site Number : 392101

Tokyo, 157-8535, Japan

Location

Investigational Site Number : 154225

Kuwait City, Kuwait

Location

Investigational Site Number : 4220004

Beirut, 11072210, Lebanon

Location

Investigational Site Number : 458001

Kuala Lumpur, 50586, Malaysia

Location

Investigational Site Number : 458002

Kuala Lumpur, 59100, Malaysia

Location

Investigational Site Number : 151171

Amsterdam, Netherlands

Location

Investigational Site Number : 152029

Rotterdam, 3015 CE, Netherlands

Location

Investigational Site Number : 154264

Lahore, Pakistan

Location

Investigational Site Number : 154266

Lahore, Pakistan

Location

Investigational Site Number : 608001

Manila, 1000, Philippines

Location

Investigational Site Number : 150575

Warsaw, 04-730, Poland

Location

Investigational Site Number : 6200002

Coimbra, 3000-075, Portugal

Location

Investigational Site Number : 154177

Cluj-Napoca, 400006, Romania

Location

Investigational Site Number : 643001

Moscow, 119571, Russia

Location

Investigational Site Number : 643002

Moscow, 125412, Russia

Location

Investigational Site Number : 682001

Al Qaţīf, Saudi Arabia

Location

Investigational Site Number : 682004

Mecca, 24246, Saudi Arabia

Location

Investigational Site Number : 703001

Bratislava, 833 40, Slovakia

Location

Investigational Site Number : 153191

Daejeon, South Korea

Location

Investigational Site Number : 153225

Jeonnam, South Korea

Location

Investigational Site Number : 153212

Seoul, South Korea

Location

Investigational Site Number : 153222

Seoul, South Korea

Location

Investigational Site Number : 7520001

Stockholm, 171 76, Sweden

Location

Investigational Site Number : 154093

Chiayi City, Taiwan

Location

Investigational Site Number : 152246

Kaohsiung City, 833, Taiwan

Location

Investigational Site Number : 151500

Putz City, Chia-yi, Taiwan

Location

Investigational Site Number : 151179

Taichung, 404, Taiwan

Location

Investigational Site Number : 152153

Tainan, 710, Taiwan

Location

Investigational Site Number : 151182

Taipei, 100, Taiwan

Location

Investigational Site Number : 152321

Taipei, 104, Taiwan

Location

Investigational Site Number : 764002

Bangkok, 10400, Thailand

Location

Investigational Site Number : 764003

Bangkok, 10400, Thailand

Location

Investigational Site Number : 764004

Bangkok, 10700, Thailand

Location

Investigational Site Number : 764001

Bangkok, Thailand

Location

Investigational Site Number : 154240

Birmingham, England, B4 6NH, United Kingdom

Location

Investigational Site Number : 151123

London, England, NW3 2QG, United Kingdom

Location

Investigational Site Number : 152156

Glasgow, Glasgow City, G51 4TF, United Kingdom

Location

Investigational Site Number : 151646

London, London, City of, WC1N 3BG, United Kingdom

Location

Investigational Site Number : 150303

London, London, City of, WC1N 3JH, United Kingdom

Location

Investigational Site Number : 152361

Salford, Manchester, M6 8HD, United Kingdom

Location

Investigational Site Number : 150455

Manchester, Missouri, M13 9WL, United Kingdom

Location

Investigational Site Number : 154212

Hanoi, Vietnam

Location

Related Publications (3)

• Viskochil D, Muenzer J, Guffon N, Garin C, Munoz-Rojas MV, Moy KA, Hutchinson DT. Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study. Dev Med Child Neurol. 2017 Dec;59(12):1269-1275. doi: 10.1111/dmcn.13545. Epub 2017 Sep 11.

  PMID: 28892147 BACKGROUND

• Arn P, Bruce IA, Wraith JE, Travers H, Fallet S. Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. Ann Otol Rhinol Laryngol. 2015 Mar;124(3):198-205. doi: 10.1177/0003489414550154. Epub 2014 Sep 11.

  PMID: 25214650 BACKGROUND

• Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S. The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med. 2014 Oct;16(10):759-65. doi: 10.1038/gim.2014.25. Epub 2014 Mar 27.

  PMID: 24675674 BACKGROUND

MeSH Terms

Conditions

Mucopolysaccharidosis I

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Medical Monitor

  Genzyme, a Sanofi Company

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 2, 2005
• First Posted: September 5, 2005
• Study Start: November 20, 2003
• Primary Completion: December 31, 2024
• Study Completion: December 31, 2024
• Last Updated: February 27, 2026

Record last verified: 2026-02

Locations

EG (2); SE (1); TH (4); DE (2); JP (2); ID (1); NL (2); SL (1); KR (4); US (53); AU (1); CZ (1); LE (1); PL (1); CO (1); FR (5); IN (3); RO (1); PA (2); SA (2); TW (7); BE (3); PT (1); BR (4); CA (8); GB (7); IE (1); CL (2); KU (1); DK (1); MY (2); VN (1); RU (2); AR (2); HK (1); IT (7); PH (1)