This study has been transitioned to CTIS with ID 2024-518215-18-00 check the CTIS register for the current data. To explore safety, tolerability and efficacy of avalglucosidase alfa in previously treated alglucosidase alfa late-onset Pompe disease…
ID
Source
Brief title
Condition
- Metabolic and nutritional disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
- Muscle strength:
* manual muscle testing (MMT)
* hand-held dynamometry (HHD)
- Muscle function:
* Quick Motor Function test (QMFT)
* six Minute Walk Test (6MWT)
* timed tests.
- Pulmonary function:
* (forced) vital capacity ((F)VC) in sitting and supine positions
* Maximum Inspiratory Pressure (MIP), Maximum Expiratory Pressure (MEP)
- *PRO-measures*:
* Rasch-build Pompe Activity scale (R-PAct)
* Quality of Life (QoL; SF-36, TACQOL)
* modified Borg scale
* hours of ventilation per day
Secondary outcome
Not applicable
Background summary
Pompe disease does not break down or badly break down your energy supply in the
cells (glycogen) and accumulates in the cells, damaging various types of
tissues, especially the skeletal muscles and respiratory muscles. The standard
treatment for this is administration of the missing enzyme alglucosidase-alpha
(Myozyme®) via enzyme replacement therapy (ERT).
Not all patients respond well to treatment. At the moment, a lot of research is
being done on new improved forms of ERT. In the current study a new form of ERT
is investigated, avalglucosidase alpha that may indicate a greater improvement
in the disease status in patients with Pompe disease.
Study objective
This study has been transitioned to CTIS with ID 2024-518215-18-00 check the CTIS register for the current data.
To explore safety, tolerability and efficacy of avalglucosidase alfa in
previously treated alglucosidase alfa late-onset Pompe disease patients aged >=
5 years
Study design
Single-center, open-label, repeated bi-weekly intravenous infusion study of
avalglucosidase alfa in late-onset Pompe disease patients aged >= 5 years,
previously treated with alglucosidase alfa.
Intervention
neoGAA.
Sterile lyophilized powder administered by intravenous infusion following
reconstitution and dilution.
20 mg/kg bi-weekly
Study burden and risks
The research agent is given once every two weeks per infusion at Erasmus MC.
This can take between 2 and 5 hours; this depends on the total amount of enzyme
that is administered. After each infusion, the patient will remain in the
hospital for another 2 hours to observe the side effects.
In addition to administering the infusion, the following will be done:
- a physical examination - on eleven visits
- a heart video (ECG) - on twelve visits
- blood - on 27 visits.
- muscle tests and lung function tests - on 11 visits
- fill out a questionnaire about your health status and quality of life - on 11
visits
dr. Molewaterplein 40
Rotterdam 3015 GD
NL
dr. Molewaterplein 40
Rotterdam 3015 GD
NL
Listed location countries
Age
Inclusion criteria
- Age >= 5 years and =< 50 years.
- Childhood or juvenile/young adult onset.
- Residing in the Netherlands or Belgium.
- Current Enzyme-replacement therapy with alglucosidase alfa >= 2 years (dose
regimen 20 or 40 mg/kg bi-weekly).
- Confirmed diagnosis: enzyme deficiency in any tissue source / 2 confirmed
pathogenic variations in the GAA gene.
- Willing and able to adhere to study procedures (incl. patient and/or
parent/guardian signed informed consent).
- Deterioration in either pulmonary function / 6MWT / muscle strength despite
current treatment regimen with alglucosidase alfa.
- Disease status:
- Measurable pulmonary (dys)function: (F)VC <= 80% predicted (mechanic
ventilation during the
day or night allowed).
- Measurable muscle weakness in proximal and/or distal muscle groups
(non-
ambulant/wheelchair bound patients allowed).
- Measurable functional ability.
Exclusion criteria
- Age >50 years.
- Invasive mechanical ventilation.
- No remaining useful functional ability (e.g. (almost) tetraplegic), as
decided by the treating physician.
- Unmanageable, severe IARs on alglucosidase alfa.
- Deterioration due to high levels of anti-alglucosidase alfa antibodies
interfering with treatment efficacy.
- Female patient of childbearing potential not protected by highly effective
contraceptive method of birth control and/or who is unwilling or unable to be
tested for pregnancy
Design
Recruitment
Medical products/devices used
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| EU-CTR | CTIS2024-518215-18-00 |
| EudraCT | EUCTR2019-002251-42-NL |
| CCMO | NL70885.078.21 |