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Registry for patients with Mucopolysaccharidosis I

Mucopolysaccharidosis I (MPS I) Registry

Observational Sanofi · NCT00144794

This study is collecting information from people with Mucopolysaccharidosis I to see how well enzyme replacement therapy works and to better understand the disease over time.

Quick facts

Study typeObservational
Enrollment1500 (estimated)
SexAll
SponsorSanofi Industry-sponsored
Locations180 sites (Phoenix, Arizona and 179 other locations)
Trial IDNCT00144794 on ClinicalTrials.gov

What this trial studies

The Mucopolysaccharidosis I (MPS I) Registry is an ongoing observational database that collects data on patients diagnosed with MPS I. It aims to evaluate the long-term effectiveness and safety of enzyme replacement therapy, such as Aldurazyme, while also characterizing the natural history and progression of the disease. By tracking patient outcomes, the registry seeks to provide insights that can help optimize patient care and inform clinical recommendations. The registry is open to all patients with a confirmed diagnosis of MPS I.

Who should consider this trial

Good fit: Ideal candidates for this registry are individuals with a confirmed diagnosis of MPS I, including those with documented biochemical evidence or clinical symptoms.

Not a fit: Patients without a confirmed diagnosis of MPS I will not benefit from participation in this registry.

Why it matters

Potential benefit: If successful, this registry could enhance understanding of MPS I and improve treatment strategies for affected patients.

How similar studies have performed: Other observational registries for rare diseases have shown success in improving patient outcomes and treatment strategies, indicating that this approach is promising.

Eligibility criteria

Show full inclusion / exclusion criteria 
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.

Where this trial is running

Phoenix, Arizona and 179 other locations

+130 more sites — see ClinicalTrials.gov for the full list.

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Mucopolysaccharidosis IHurler's SyndromeHurler-Scheie SyndromeScheie Syndrome
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.