Clinical trial NCT02221362: A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease
Official title: A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Late-onset Pompe Patients Untreated or Treated With rhGAA
Lead sponsor: BioMarin Pharmaceutical
Sponsor class: INDUSTRY
First posted: 2014-08-20
Enrollment: 30
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Late-onset Pompe Disease patients untreated or treated with rhGAA

Brief summary: Study 701-901, a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 18 years old, diagnosed with late-onset Pompe disease prospectively collects data to understand clinical progression in terms of respiratory function, symptomology, genotype, biochemistry, endurance and selected subject-reported measures for 24 weeks followed by a 240 week additional observation period for up to 100 subjects.


Eligibility criteria: Inclusion Criteria:

* Willing and able to provide written informed consent after the nature of the study has been explained and prior to any study-related procedure
* Diagnosed with late-onset Pompe disease based on current or previous genomic testing and/or endogenous GAA activity
* At least 18 years of age at study entry
* Willing and able to comply with all study procedures

Exclusion Criteria:

* Requires non-invasive ventilatory support while awake and in the upright position
* Concurrent disease, medical condition, or extenuating circumstance that, in the opinion of the investigator, might compromise study completion or data collection
* Unable to perform baseline efficacy assessments

Primary outcomes:
measure: To evaluate the degree of change in respiratory and endurance endpoints over time in patients with Pompe disease
timeFrame: 264 Weeks
Secondary outcomes:
Other outcomes:
Locations:
city: Westmead
country: Australia
facility: Westmead Hospital, Dept. of Genetic Medicine
state: New South Wales
city: Adelaide
country: Australia
facility: Women's and Children's Hospital
state: South Australia
city: Clayton
country: Australia
facility: Monash Medical Centre
state: Victoria
city: Porto Alegre
country: Brazil
city: Recife
country: Brazil
city: Ribeirao Preto
country: Brazil
city: Calgary
country: Canada
facility: Alberta Children's Hospital
state: Alberta
city: Alexandroupolis
country: Greece
city: Athens
country: Greece
city: Larissa
country: Greece
city: Thessalonika
country: Greece
city: Dublin
country: Ireland
facility: St. Vincent's University Hospital
city: Seoul
country: Korea, Republic of
facility: Seoul National University Hospital
city: Gdansk
country: Poland
facility: Copernicus, St. Adalbert Hospital
city: Krakow
country: Poland
facility: Diamond Clinic
city: Warsaw
country: Poland
facility: Insitute of Psychiatry and Neurology
city: Constanta
country: Romania
facility: Spitalul Clinic Judetean de Urgenta "Sf. Apostol Andrei"
city: Belgrade
country: Serbia
city: Singapore
country: Singapore
facility: National University Hospital
city: Ljubljana
country: Slovenia
city: Barcelona
country: Spain
facility: Hospital de la Santa Creu I Sant Pau
city: Madrid
country: Spain
facility: Hospital General Universitario Gregorio Maranon
city: Valencia
country: Spain
facility: Hospital Universitari i Politecnic La Fe
city: Taipei
country: Taiwan
facility: Mackay Memorial Hospital
Study officials:
affiliation: BioMarin Pharmaceutical
name: Medical Monitor, MD
role: STUDY_DIRECTOR
References: