Natural 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.

Natural 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. - Enzyme therapy in patients with MPS type I, II and VI

Status

Recruiting

Phases

Phase 4

Study type

Interventional

Source

NL-OMON

Registry ID

NL-OMON35691

Enrollment

Registered

2007-04-19

Start date

2007-07-05

Completion date

Unknown

Last updated

2024-06-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hunter syndrome and Maroteaux-Lamy syndrome) lysosomal storage disorders (Hurler syndrome

Interventions

MPS I patients, participating in the therapeutic part of the study will receive infusions with Aldurazyme, MPS II patient with Elaprase and MPS VI patients with Naglazyme. These medications are regi

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

Inclusion criteria: 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.

Exclusion criteria

Exclusion criteria: 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.

Design outcomes

Primary

Measure	Time frame
- Survival - Physical endurance - Joint mobility - Cardiac size and function - Pulmonary function, apnoea syndrome and need for respiratory support - Urine GAG levels - Size of liver and spleen - Corneal clouding and eye function - Morphometry of the face - Quality of life - Costs - Enzyme activity in dried blood spots	—

Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)