Efficacy and safety of enzyme replacement therapy for Mucopolysaccharidosis type I with 100 IU/Kg recombinant human a-L-iduronidase (Aldurazyme™)

Not Applicable

Completed

• Conditions: Mucopolysaccharidosis type I; Nutritional, Metabolic, Endocrine; Disorders of metabolism

• Registration Number: ISRCTN22324060
• Lead Sponsor: Erasmus Medical Centre (The Netherlands)

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Completion: 2005-12-31
• Study Start: 2007-03-06
• Last Update Posted: 30 August 2021

Recruitment & Eligibility

• Status: Completed
• Sex: All
• Target Recruitment: 35

Inclusion Criteria

1. The patient must give written informed consent
2. If the patient is younger than 12 years, informed consent from his/her parents or his/her legal representative is necessary
3. If the patient is below 18 years, but older than 12 years, informed consent from the child is necessary if the patient is mentally and physically able to do so
4. The patients can be included in this protocol, and not in any of the two other MPS I treatment protocols
5. The patient must have a current diagnosis of MPS I, as documented by a decreased a-L-iduronidase activity in leukocytes or fibroblasts
6. Patients must be willing and able to comply with the study protocol
7. Female patients must have a negative pregnancy test, and must use a medically accepted method of contraception during the study

Exclusion Criteria

1. Patient is unable or unwilling to comply with the study protocol
2. Parent(s) or legal representatives are unable or unwilling to comply with the evaluation program
3. Patient is pregnant or lactating
4. Life expectancy less than six months
5. Very severe neurological involvement as evidenced by:
a. total or subtotal absence of cortical activity (vegetative state)
b. untreatable seizures
c. loss of (almost) all abilities to communicate

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<br> 1. Improvement of joint mobility<br> 2. Improvement of quality of life<br>

Secondary Outcome Measures

Name	Time	Method
<br> 1. Improvement of sleep apnea registration<br> 2. Improvement in six-minute walk test<br> 3. Improvement of cardiac geometry and function<br> 4. Improvement in lung function<br> 5. Improved motor performance (handicap status)<br> 6. Evaluation of visual acuity/performance<br> 7. Evaluation of mental condition and social performance<br> 8. Decrease of liver and/or spleen size as measured by ultrasound<br> 9. Effect of dose and infusion rate on plasma enzyme levels and enzyme availability<br>