atural course, effects of enzyme therapy and health economic aspects in patients with mucopolysaccharidosis type I, II and VI. Long-term folloe-up of untreated patients and patients receiving commercially available Aldurazyme, Elaprase and Naglazyme.
- Conditions
- Hunter syndrome and Maroteaux-Lamy syndrome)lysosomal storage disorders (Hurler syndrome100274241002160510028396
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 50
1. The patient should have a biochemically confirmed deficiency of a-L-iduronidase (MPS I). iduronidate-2-sulfatase (MPS II), or N-acetylgalactosamine-4-sulfatase (MPS VI); or a confirmed mutation in the gene encoding for a-L-iduronidase (MPS I). iduronidate-2-sulfatase (MPS II, or N-acetylgalactosamine-4-sulfatase (MPS VI).
2. The patient has had least one evaluation through which the severity of the disease has been assessed and the urgency of enzyme therapy can be determined.
3. Written informed consent must be obtained from the patient and/or from the patient's parent/guardian if the patient is under 18 years of age.
1. The patient (or parent/legal guardian) is unable or unwilling to comply with the study protocol.
2. The patient has severe neurological involvement as evidenced by:
* total or subtotal absence of cortical activity.
* untreatable seizures
* loss of (almost) all abilities to communicate.
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>- Survival<br /><br>- Physical endurance<br /><br>- Joint mobility<br /><br>- Cardiac size and function<br /><br>- Pulmonary function, apnoea syndrome and need for respiratory support<br /><br>- Urine GAG levels<br /><br>- Size of liver and spleen<br /><br>- Corneal clouding and eye function<br /><br>- Morphometry of the face<br /><br>- Quality of life<br /><br>- Costs<br /><br>- Enzyme activity in dried blood spots</p><br>
- Secondary Outcome Measures
Name Time Method <p>Not applicable</p><br>