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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/show/NCT04189601




Registration number
NCT04189601
Ethics application status
Date submitted
1/12/2019
Date registered
6/12/2019
Date last updated
6/12/2019

Titles & IDs
Public title
Complement Activation in the Lysosomal Storage Disorders
Scientific title
Complement Activation in the Lysosomal Storage Disorders
Secondary ID [1] 0 0
Royal_Melbourne
Universal Trial Number (UTN)
Trial acronym
CATALYST
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Fabry Disease 0 0
Gaucher Disease 0 0
Niemann-Pick Disease, Type C 0 0
Lysosomal Storage Diseases 0 0
Condition category
Condition code
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Metabolic and Endocrine 0 0 0 0
Metabolic disorders
Metabolic and Endocrine 0 0 0 0
Other metabolic disorders
Neurological 0 0 0 0
Neurodegenerative diseases
Mental Health 0 0 0 0
Other mental health disorders
Neurological 0 0 0 0
Other neurological disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Diagnosis / Prognosis - Complement measurements

Study subjects - Patients with Fabry disease, Gaucher disease, or Niemann-Pick disease, type D

Controls - Age- and sex-matched to Study subjects


Diagnosis / Prognosis: Complement measurements
Blood and urine tests to assess the complement activation state

Intervention code [1] 0 0
Diagnosis / Prognosis
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Change in soluble C5b-9 - Difference in sC5b-9 between Subjects and Controls at a single timepoint up to 8 months
Timepoint [1] 0 0
At baseline
Secondary outcome [1] 0 0
Other complement biomarkers - Serum C3a and C5a
Timepoint [1] 0 0
Difference in C3a and C5a between Subjects and Controls at a single timepoint up to 8 months

Eligibility
Key inclusion criteria
- All consenting patients with a prior diagnosis of FD, GD or NPC will be included in
the study. Control participants will be healthy volunteers.
Minimum age
17 Years
Maximum age
70 Years
Gender
Both males and females
Can healthy volunteers participate?
Yes
Key exclusion criteria
- Patients who are unable to provide consent or to perform a blood or urine test will be
excluded.

Study design
Purpose
Duration
Cross-sectional
Selection
Timing
Statistical methods / analysis

Recruitment
Recruitment status
Not yet recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
Sample size
Target
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
The Royal Melbourne Hospital - Melbourne
Recruitment postcode(s) [1] 0 0
3050 - Melbourne

Funding & Sponsors
Primary sponsor type
Other
Name
Melbourne Health
Address
Country
Other collaborator category [1] 0 0
Commercial sector/Industry
Name [1] 0 0
Sanofi
Address [1] 0 0
Country [1] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
The lysosomal storage disorders (LSDs) are monogenic disorders associated with inflammation
affecting multiple organs, and early death. Few treatments are available that can modify the
disease course, and there is an urgent need to identify new steps in pathogenesis that can be
targeted therapeutically. The complement system is novel and highly plausible as a primary
driver of inflammation and cellular injury in the LSDs. This study assesses the complement
activation state in patients with Fabry disease (FD), Gaucher disease (GD) and Niemann-Pick
disease, type C (NPC), with comparison to healthy controls. This has the potential for
immense clinical benefit through targeted complement inhibition across the full spectrum of
lysosomal storage disorders, in which key pathophysiological processes including the
inflammatory response to lysosomally 'stored' materials are shared.
Trial website
https://clinicaltrials.gov/show/NCT04189601
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Thomas D Barbour, MBBS
Address 0 0
Melbourne Health
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Thomas D Barbour, MBBS
Address 0 0
Country 0 0
Phone 0 0
+61 3 9342 9003
Fax 0 0
Email 0 0
tom.barbour@mh.org.au
Contact person for scientific queries

Summary results
For IPD and results data, please see https://clinicaltrials.gov/show/NCT04189601