Mucopolysaccharidosis I (MPS I) Registry

February 24, 2026 updated by: Genzyme, a Sanofi Company

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

Study Overview

Status

Completed

Conditions

Mucopolysaccharidosis I (MPS I)

Detailed Description

The MPS I Registry is an international program; in addition to the central contact information provided under the "Location" heading, patients may contact:

In Asia-Pacific - Vivian Liu, +65-6431-2548, Vivian.liu@genzyme.com
In Europe - +31-35-699-1232, europe@mpsiregistry.com
In Latin America - +617-591-5500, help@mpsiregistry.com
In North America - +617-591-5500, help@mpsiregistry.com

Study Type

Observational

Enrollment (Actual)

1406

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Argentina
- - Buenos Aires, Argentina, 1192
    - Investigational Site Number : 153032
  - San Luis, Argentina, 5700
    - Investigational Site Number : 153130
Australia
- New South Wales
  - Westmead, New South Wales, Australia, 2145
    - Investigational Site Number : 151069
Belgium
- - Brussels, Belgium, 1090
    - Investigational Site Number : 150944
  - Leuven, Belgium, 3000
    - Investigational Site Number : 151668
  - Roeselare, Belgium, 8800
    - Investigational Site Number : 154008
Brazil
- - Rio de Janeiro, Brazil, 22250-020
    - Instituto Fernandes Figueira - FIOCRUZ- Site Number : 076004
  - São Paulo, Brazil, 04020-041
    - Instituto de Genética e Erros Inatos do Metabolismo- Site Number : 076002
- Rio Grande do Sul
  - Porto Alegre, Rio Grande do Sul, Brazil, 90035-002
    - Private Practice - Dr. Fabiano Klaus- Site Number : 076001
- São Paulo
  - Campinas, São Paulo, Brazil, 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
Czechia
- - Prague, Czechia, 12808
    - Investigational Site Number : 150659
Denmark
- - Copenhagen, Denmark, 2100
    - Investigational Site Number : 151229
Egypt
- - Cairo, Egypt, 11231
    - Investigational Site Number : 818002
  - Cairo, Egypt
    - Investigational Site Number : 818001
France
- - Bordeaux, France, 33076
    - Investigational Site Number : 250004
  - Bron, France, 69677
    - Investigational Site Number : 250001
  - Marseille, France, 13885
    - Investigational Site Number : 250002
  - Paris, France, 75015
    - Investigational Site Number : 250003
  - Vandœuvre-lès-Nancy, France, 54511
    - Investigational Site Number : 250006
Germany
- - Hamburg, Germany, 20246
    - Investigational Site Number : 151368
  - Mainz, Germany, 55131
    - Investigational Site Number : 150031
Hong Kong
- - Kowloon, Hong Kong
    - Investigational Site Number : 344001
India
- - Ahmedabad, India, 380015
    - Investigational Site Number : 356003
  - Kolkata, India, 700017
    - Investigational Site Number : 356001
  - Vellore, India, 632004
    - Investigational Site Number : 356002
Indonesia
- - Jakarta, Indonesia
    - Investigational Site Number : 360001
Ireland
- - Dublin, Ireland, D01 F772
    - Investigational Site Number : 154161
Italy
- - Ancona, Italy, 60126
    - Investigational Site Number : 380002
  - Genova, Italy, 16147
    - Investigational Site Number : 380003
  - Napoli, Italy
    - Investigational Site Number : 380005
  - Padua, Italy, 35128
    - Investigational Site Number : 380008
- Milano
  - Cusano Milanino, Milano, Italy, 20095
    - Investigational Site Number : 380004
  - Milan, Milano, Italy, 20142
    - Investigational Site Number : 380007
- Roma
  - Rome, Roma, Italy, 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
Lebanon
- - Beirut, Lebanon, 11072210
    - Investigational Site Number : 4220004
Malaysia
- - Kuala Lumpur, Malaysia, 50586
    - Investigational Site Number : 458001
  - Kuala Lumpur, Malaysia, 59100
    - Investigational Site Number : 458002
Netherlands
- - Amsterdam, Netherlands
    - Investigational Site Number : 151171
  - Rotterdam, Netherlands, 3015 CE
    - Investigational Site Number : 152029
Pakistan
- - Lahore, Pakistan
    - Investigational Site Number : 154264
  - Lahore, Pakistan
    - Investigational Site Number : 154266
Philippines
- - Manila, Philippines, 1000
    - Investigational Site Number : 608001
Poland
- - Warsaw, Poland, 04-730
    - Investigational Site Number : 150575
Portugal
- - Coimbra, Portugal, 3000-075
    - Investigational Site Number : 6200002
Romania
- - Cluj-Napoca, Romania, 400006
    - Investigational Site Number : 154177
Russia
- - Moscow, Russia, 119571
    - Investigational Site Number : 643001
  - Moscow, Russia, 125412
    - Investigational Site Number : 643002
Saudi Arabia
- - Al Qaţīf, Saudi Arabia
    - Investigational Site Number : 682001
  - Mecca, Saudi Arabia, 24246
    - Investigational Site Number : 682004
Slovakia
- - Bratislava, Slovakia, 833 40
    - Investigational Site Number : 703001
South Korea
- - Daejeon, South Korea
    - Investigational Site Number : 153191
  - Jeonnam, South Korea
    - Investigational Site Number : 153225
  - Seoul, South Korea
    - Investigational Site Number : 153212
  - Seoul, South Korea
    - Investigational Site Number : 153222
Sweden
- - Stockholm, Sweden, 171 76
    - Investigational Site Number : 7520001
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
United Kingdom
- England
  - Birmingham, England, United Kingdom, B4 6NH
    - Investigational Site Number : 154240
  - London, England, United Kingdom, NW3 2QG
    - Investigational Site Number : 151123
- Glasgow City
  - Glasgow, Glasgow City, United Kingdom, G51 4TF
    - Investigational Site Number : 152156
- London, City of
  - London, London, City of, United Kingdom, WC1N 3BG
    - Investigational Site Number : 151646
  - London, London, City of, United Kingdom, WC1N 3JH
    - Investigational Site Number : 150303
- Manchester
  - Salford, Manchester, United Kingdom, M6 8HD
    - Investigational Site Number : 152361
- Missouri
  - Manchester, Missouri, United Kingdom, M13 9WL
    - Investigational Site Number : 150455
United States
- Arizona
  - Phoenix, Arizona, United States, 85016
    - Phoenix Children's Hospital- Site Number : 840003
- Arkansas
  - Little Rock, Arkansas, United States, 72202
    - Arkansas Children's Hospital- Site Number : 840109
- California
  - Los Angeles, California, United States, 90027
    - Southern California Permanente Medical Group- Site Number : 840108
  - Los Angeles, California, United States, 90033
    - USC Health Sciences Center Dept of Genetics- Site Number : 840082
  - Oakland, California, United States, 94609
    - UCSF Benioff Children's Hospital - Oakland- Site Number : 840029
  - Orange, California, United States, 92868
    - Children's Hospital of Orange County- Site Number : 840074
  - Palo Alto, California, United States, 94305
    - Stanford Unviersity MC Dept of Genetics- Site Number : 840022
  - Sacramento, California, United States, 95817
    - UC Davis MIND Institute- Site Number : 840010
  - San Diego, California, United States, 92093
    - University of California at San Diego- Site Number : 840007
  - San Francisco, California, United States
    - University of California at San Francisco- Site Number : 840051
- Colorado
  - Aurora, Colorado, United States, 80045
    - Children's Hospital Colorado - Aurora- Site Number : 840069
  - Aurora, Colorado, United States, 80045
    - University of Colorado at Denver Genetics Site Number : 840068
- Connecticut
  - New Haven, Connecticut, United States, 06510
    - Yale University School of Medicine- Site Number : 840047
- District of Columbia
  - Washington D.C., District of Columbia, United States, 20010
    - Children's National Medical Center - Washington- Site Number : 840067
- Florida
  - Gainesville, Florida, United States, 32610
    - University of Florida Dept of Genetics- Site Number : 840083
  - Miami, Florida, United States, 33136
    - University Of Miami SOM- Site Number : 840006
  - Tampa, Florida, United States, 33612
    - Pediatric Endocrine Associates- Site Number : 840017
- Georgia
  - Decatur, Georgia, United States, 30033
    - Emory University School of Medicine- Human Genetics- Site Number : 840060
- Illinois
  - Chicago, Illinois, United States, 60611
    - Ann & Robert H. Lurie Children's Hospital of Chicago- Site Number : 840011
  - Chicago, Illinois, United States, 60612
    - Rush University Medical Center Genetics- Site Number : 840079
- Indiana
  - Indianapolis, Indiana, United States, 46202
    - Indianapolis University School of Medicine- Site Number : 840027
- Iowa
  - Iowa City, Iowa, United States, 52242
    - University of Iowa- Site Number : 840032
- Kentucky
  - Louisville, Kentucky, United States, 40202
    - University of Louisville- Genetics- Site Number : 840030
- Maryland
  - Baltimore, Maryland, United States
    - John Hopkins- Site Number : 840044
- Massachusetts
  - Boston, Massachusetts, United States, 02114
    - Massachusetts General Hospital-Genetics- Site Number : 840062
  - Boston, Massachusetts, United States, 2115
    - Boston Children's Hospital - PIN- Site Number : 840093
  - Springfield, Massachusetts, United States, 01199
    - Baystate Medical Center- Site Number : 840002
- Michigan
  - Ann Arbor, Michigan, United States, 48109
    - University of Michigan Pediatrics- Site Number : 840107
- Minnesota
  - Minneapolis, Minnesota, United States, 55455
    - University of Minnesota Medical Center Pediatrics- Site Number : 840076
- Missouri
  - St Louis, Missouri, United States, 63110
    - Washington University- Site Number : 840100
- Nebraska
  - Omaha, Nebraska, United States, 68198
    - University of Nebraska Medical Center- Site Number : 840084
- Nevada
  - Las Vegas, Nevada, United States, 89109
    - Children's Specialty Center - Las Vegas- Site Number : 840008
- New Jersey
  - Hackensack, New Jersey, United States, 07601
    - Joseph M. Sanzari Children's Hospital- Site Number : 840101
  - New Brunswick, New Jersey, United States, 08901
    - Saint Peter's University Hospital - New Brunswick- Site Number : 840016
- New York
  - Manhasset, New York, United States, 11030
    - Northwell Health - Site Number : 840102
  - New York, New York, United States, 10016
    - New York University School Of Medicine- Site Number : 840040
  - Syracuse, New York, United States, 13210
    - State University of New York- Site Number : 840052
- North Carolina
  - Durham, North Carolina, United States, 27710
    - Duke University Medical Center Genetics Dept- Site Number : 840037
- Ohio
  - Cincinnati, Ohio, United States
    - Cincinnati Children's Hospital-Genetics- Site Number : 840041
  - Columbus, Ohio, United States, 43205
    - Nationwide Children's Hospital- Site Number : 840091
- Oregon
  - Portland, Oregon, United States, 97239
    - Oregon Health & Science University (OHSU)- Site Number : 840080
- Pennsylvania
  - Philadelphia, Pennsylvania, United States, 19104
    - Children's Hospital of Philadelphia HUP Medical Genetics- Site Number : 840089
  - Philadelphia, Pennsylvania, United States
    - Children's Hospital of Philadelphia- Site Number : 840034
  - Pittsburgh, Pennsylvania, United States, 15224
    - University of Pittsburgh- Site Number : 840023
- Rhode Island
  - Providence, Rhode Island, United States, 02903
    - Rhode Island Hospital Genetics- Site Number : 840053
- South Carolina
  - Greenville, South Carolina, United States, 29605
    - Greenwood Genetic Center - Greenville- Site Number : 840055
- Texas
  - Dallas, Texas, United States, 75226
    - Baylor Institute of Metabolic Disease- Site Number : 840058
- Utah
  - Salt Lake City, Utah, United States, 84132
    - University of Utah Health Hospital- Site Number : 840092
- Virginia
  - Charlottesville, Virginia, United States, 22908
    - University of Virginia School of Medicine-Pediatrics- Site Number : 840078
  - Norfolk, Virginia, United States, 23507
    - Children's Hospital of The King's Daughters- Site Number : 840072
- Washington
  - Seattle, Washington, United States, 98105
    - Seattle Children's Hospital- Site Number : 840028
  - Seattle, Washington, United States, 98195
    - University of Washington Medical Center- Site Number : 840059
- Wisconsin
  - Milwaukee, Wisconsin, United States, 53226
    - Children's Hospital of Wisconsin-Pediatrics- Site Number : 840054
Vietnam
- - Hanoi, Vietnam
    - 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

Sampling Method

Probability Sample

Study Population

All Patients with MPS I

Description

Inclusion Criteria:

All patients with a confirmed diagnosis of MPS I are eligible for inclusion. Confirmed diagnosis is defined as: A. documented biochemical evidence of a deficiency in alpha (a)-L-iduronidase enzyme activity and/or B. mutation(s) in the gene coding for a-L-iduronidase, or measurable clinical signs and symptoms of MPS I
For all patients there should be a completed patient authorization form

Exclusion Criteria:

No exclusion criteria for participation in the MPS I Registry. NOTE: Registry participation does not exclude participation in other clinical studies.

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
To evaluate the long-term effectiveness of Aldurazyme Time Frame: Approximately 17 Years	Approximately 17 Years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Genzyme, a Sanofi Company

Investigators

Study Director: Medical Monitor, 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

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)

November 20, 2003

Primary Completion (Actual)

December 31, 2024

Study Completion (Actual)

December 31, 2024

Study Registration Dates

First Submitted

September 2, 2005

First Submitted That Met QC Criteria