The purpose of the study is to evaluate changes in key clinical outcome measures (eg, motor, respiratory, fatigue) in adult subjects with late-onset Pompe disease (LOPD) receiving standard-of-care enzyme replacement therapy (ERT). Additionally,…
ID
Source
Brief title
Condition
- Musculoskeletal and connective tissue disorders congenital
- Musculoskeletal and connective tissue disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The following parameters will be assessed throughout the study. Historical data
for these parameters will also be collected.
* 6MWT
* Pulmonary Function Tests (FVC, VC, maximum inspiratory pressure [MIP], and
sniff nasal inspiratory pressure [SNIP])
* Motor Function Tests (Timed Up and Go [TUG] test and Gait, Stairs, Gower, and
Chair maneuver [GSGC])
* Muscle Strength Testing (manual muscle strength testing and hand-held
dynamometer measurements)
* Patient-reported Outcomes (PRO), including Rasch-built Pompe-specific
activity; Patient-reported Outcomes Measurement Information System (PROMIS®)
for dyspnea, fatigue, physical functioning, and upper extremity; and EuroQol-5
Dimensions-5 Levels (EQ-5D-5L)
* Adverse events
* Prior and concomitant medications
* Medical history
* Electrocardiograms (ECG)
* Physical examinations
* Vital signs, weight, and height
* Clinical laboratory assessments
* Pharmacodynamic assessments (creatine kinase [CK] and hexose tetrasaccharide
[Hex4])
* Infusion-associated reactions
* Anti-recombinant human acid alpha-glucosidase (rhGAA) antibodies (total and
neutralizing). The type of assay used and the facility performing the assay
will be captured for retrospective antibody results.
* Physician*s Global Impression of Change
* Subject Global Impression of Change
Secondary outcome
Not applicable
Background summary
Pompe disease, also known as acid maltase deficiency or glycogen storage
disease type II, is an autosomal recessive genetic disorder caused by mutations
in the GAA gene that encodes acid *-glucosidase (GAA), an enzyme that catalyzes
the breakdown of lysosomal glycogen.
The objective of this study is to evaluate the baseline characteristics and
degree of change over time in clinical outcome measures commonly used to
evaluate patients with LOPD.
Study objective
The purpose of the study is to evaluate changes in key clinical outcome
measures (eg, motor, respiratory, fatigue) in adult subjects with late-onset
Pompe disease (LOPD) receiving standard-of-care enzyme replacement therapy
(ERT). Additionally, information gained may be used in the design and conduct
of future studies in LOPD subjects.
Study design
This is a prospective, multi-center, study
Study burden and risks
There will be 9 visits.
The following study procedures will be performed:
Physical evaluation
ECG
Blood draws including genetic test (venipuncture)
Urine collections
Pulmonary function tests(Spirometer, respiratory pressure meter)
Motor function tests
Muscle strength tests
Questionnaires
Pregnancy test
Risks: When taking the bloodsamples redness, swelling and/or pin can occur at
the site of injection. When removing the ECG some irritation of the skin can
occur. The genetic test for Pompe disease can be uncomfortable for the
subjects.
Cedar Brook Drive 1
Cranbury NJ 08512
US
Cedar Brook Drive 1
Cranbury NJ 08512
US
Listed location countries
Age
Inclusion criteria
1. Subject has a diagnosis of Pompe disease based on documented deficiency of
acid *-glucosidase (GAA) activity and a documented GAA mutation (the gene
that encodes GAA).
2. Male and female subjects between 18 years and 75 years, inclusive and * 50 kg.
3. Subject must provide signed informed
consent prior to performing any study-related
procedures.
4. Subject must be currently receiving standard-of-care ERT (alglucosidase alfa)
at the recommended dose (approximately 20 mg/kg dose) every other week and for the past 2 years or more
5. Subject must be able to perform pulmonary testing and muscle function
testing in a seated position.
6. Subjects must have an upright forced vital capacity (FVC) within 35 to 90%
of predicted normal (NHANES III reference values), based on the higher of the screening or baseline value, if their 6MWD is >200 m. Subject must have an upright FVC within 40 to 90% of redicted normal (NHANES III reference values), based on the higher of the screening or baseline value, if their 6MWD is *200m. If FVC is between 80 and 90% of predicted normal, the subject may enter the study if the percent predicted FVC value drops by 10% predicted or more in supine position.
7. Subject is able to walk at least 100 m in the 6-minute walk test (6MWT) and the assessment is noted as valid.
Exclusion criteria
1. Subject has received any investigational therapy or pharmacological treatment
for Pompe disease, other than alglucosidase alfa, within 30 days or 5 half-lives, whichever is shorter, prior to theBaseline Visit or is anticipated to do so during the course of the study.
2. Subject is on any of the following prohibited medications within 30 days or 5 half-lives, whichever is shorter, prior to
Baseline, or is anticipated to do so during the course of the study:
* miglitol (eg, Glyset)
* miglustat (eg, Zavesca)
* acarbose (eg, Precose, Glucobay)
* voglibose (eg, Volix, Vocarb, Volibo)
3. Subject requires use of invasive or non-invasive ventilatory support for
> 6 hours a day while awake.
4. Subject has a medical or any other extenuating condition or circumstance that
may, in the opinion of the investigator, pose an undue safety risk to the subject
or compromise his/her ability to comply with protocol requirements. This includes clinical depression (as diagnosed by a psychiatrist or other mental health professional) with uncontrolled or poorly controlled symptoms.
5. Subject is breastfeeding, or is pregnant or planning to become pregnant within the next 2 years
6. Other exclusion criteria according to the Lumizyme/Myozyme instructions for use.
Design
Recruitment
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 |
|---|---|
| ClinicalTrials.gov | NCT03347253 |
| CCMO | NL65102.078.18 |