Alpha Mannosidosis
Conditions
Brief summary
This is a single-center, open-label, multiple-dose study of the efficacy and long-term safety of Lamazym for the treatment of patients with alpha-mannosidosis.
Interventions
DRUGLamazym
ERT, infusion weekly
Sponsors
European Commission
Zymenex A/S
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
5 Years to 21 Years
Healthy volunteers
No
Inclusion criteria
1. The patient must have a confirmed diagnosis of alpha-Mannosidosis as defined by alpha-mannosidase activity \< 10% of normal activity in blood leukocytes 2. The patient must have an age at the time of screening ≥ 5 year and ≤ 21 years 3. The patient must have physical ability to perform 6-minutes walk test (6MWT), 3 minute-stair climb test (3MSCT) and pulmonary lung function test (spirometry, body plethysmography). 4. The patient must have the ability to mentally cooperate in the cognitive and motor function tests 5. The patient must have the ability to hear and follow a request. Hearing aids can be worn. 6. Patient or patient's legally authorized guardian(s) must provide signed, informed consent prior to performing any study-related activities (trial-related activities are any procedures that would not have been performed during normal management of the subject) 7. The patient and his/her guardian(s) must have the ability to comply with the protocol
Exclusion criteria
1. The patient cannot walk without support. 2. Presence of known chromosomal abnormality and syndromes affecting psychomotor development, other than alpha-Mannosidosis 3. History of bone marrow transplantation 4. Presence of known clinically significant cardiovascular, hepatic, pulmonary or renal disease or other medical conditions that, in the opinion of the Investigator, would preclude participation in the trial 5. Presence of an ECHO with abnormalities within half a year that, in the opinion of the Investigator, would preclude participation in the trial 6. Any other medical condition or serious intercurrent illness, or extenuating circumstance that, in the opinion of the investigator, would preclude participation in the trial 7. Pregnancy 8. Psychosis within the last 3 months
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Reduction of Oligosaccharides in urine | 3 months (interim evaluation) + 6 months | Efficacy endpoint evaluation as change from baseline |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Reduction of Oligosaccharides in serum | 3 months (interim evaluation) + 6 months | Efficacy endpoint evaluation as change from baseline |
| Reduction of Oligosaccharides in CSF | 3 months (interim evaluation) + 6 months | Efficacy endpoint evaluation as change from baseline |
| The distance walked in 6 minutes | 3 months (interim evaluation) + 6 months | Efficacy endpoint evaluation as change from baseline |
| The number of steps climbed in 3 minutes | 3 months (interim evaluation) + 6 months | Efficacy endpoint evaluation as change from baseline |
| Development of rhLAMAN antibodies and neutralizing/inhibitory antibodies | 2 weeks | Safety endpoint assessed every other week throughout the trial |
| Adverse events | 1 week | Safety endpoint assessed weekly throughout the trial |
| Development of clinically significant changes in vital signs and change in physical examination | 1 week | Safety endpoint assessed weekly throughout the trial |
| Development of clinically significant changes in the clinical laboratory parameters (hematology, biochemistry and urinalysis) | 4 weeks | Safety endpoint assessed every 4th week throughout the trial |
| Pulmonary Function | 3 months (interim evaluation) + 6 months | Efficacy endpoint evaluation as change from baseline |
Countries
Denmark
Outcome results
None listed