Mucopolysaccharidose type I.
Conditions
Interventions
Enzyme replacement therapy with Aldurazyme.
Sponsors
CVZ
Eligibility
Inclusion criteria
Inclusion criteria: 1. The patient must give written informed consent; 2. If the patients 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 á-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
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 < 6 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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Improvement of joint mobility; 2. Improvement of quality of life. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Improvement of sleep apnea registration; 2. Improvement in 6-minute walk test; 3. Improvement of cardiac geometry and function; 4. Improvement in lung function; 5. Improved motor performance (handicap status); 6. Evaluation of visual acuity / performance; 7. Evaluation of mental condition and social performance; 8. Decrease of liver and/or spleen size as measured by ultrasound; 9. Effect of dose and infusion rate on plasma enzyme levels and enzyme availability. | — |
Contacts
Public ContactA.A.M. Zandbergen
Erasmus Medical Center Rotterdam, Department of Internal Medicine, P.O. Box 2040
Outcome results
None listed