Trial registered on ANZCTR


Trial ID
ACTRN12605000294651
Ethics application status
Approved
Date submitted
29/08/2005
Date registered
5/09/2005
Date last updated
5/09/2005
Type of registration
Retrospectively registered

Titles & IDs
Public title
Inheritance of Paget's Disease
Scientific title
Prevalence and skeletal extent on bone scintigraphy of Paget's disease in people inheriting mutations in the Sequestosome1 (SQSTM1) gene
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Familial Paget's disease 382 0
Condition category
Condition code
Musculoskeletal 453 453 0 0
Other muscular and skeletal disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Offspring of people with familial Paget's disease and mutations in SQSTM1 will have their DNA extracted from leucocytes at baseline. Exons 7 and 8 of SQSTM1 then will be sequenced to determine whether they have inherited the mutation from their parent. If so they will have a bone scan to determine whether there is evidence of Paget's disease.
Intervention code [1] 281 0
Early detection / Screening
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 514 0
The prevalence of Paget's disease in offspring at baseline compared to their parents at the time Paget's disease was diagnosed in the parent.
Timepoint [1] 514 0
Secondary outcome [1] 1104 0
The disease severity, extent, and age of onset of Paget’s disease in offspring at baseline compared to their parents at the time Paget’s disease was diagnosed in the parent.
Timepoint [1] 1104 0

Eligibility
Key inclusion criteria
Minimum age
Not stated
Maximum age
Not stated
Gender
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria

Study design
Purpose
Natural history
Duration
Cross-sectional
Selection
Defined population
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
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 outside Australia
Country [1] 149 0
New Zealand
State/province [1] 149 0

Funding & Sponsors
Funding source category [1] 502 0
Government body
Name [1] 502 0
Health Research Council of New Zealand
Address [1] 502 0
Country [1] 502 0
New Zealand
Primary sponsor type
Individual
Name
Professor Tim Cundy
Address
Country
Secondary sponsor category [1] 411 0
University
Name [1] 411 0
University of Auckland Bone Research Group
Address [1] 411 0
Country [1] 411 0
New Zealand

Ethics approval
Ethics application status
Approved
Ethics committee name [1] 1484 0
Auckland university
Ethics committee address [1] 1484 0
Ethics committee country [1] 1484 0
New Zealand
Date submitted for ethics approval [1] 1484 0
Approval date [1] 1484 0
Ethics approval number [1] 1484 0

Summary
Brief summary
This is a study designed to determine whether (adult) offspring of parents with familial Paget's disease also develop Paget's disease if they have inherited a predisposing mutation.
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 36001 0
Address 36001 0
Country 36001 0
Phone 36001 0
Fax 36001 0
Email 36001 0
Contact person for public queries
Name 9470 0
Diana Wattie
Address 9470 0
Bone Research Group
Department of Medicine
Auckland University
Private Bag 92 019
Auckland 1020
Country 9470 0
New Zealand
Phone 9470 0
+64 9 3078970
Fax 9470 0
+64 9 3737677
Email 9470 0
d.wattie@auckland.ac.nz
Contact person for scientific queries
Name 398 0
Professor Cundy
Address 398 0
Bone Research Group
Department of Medicine
Auckland University
Private Bag 92 019
Auckland 1020
Country 398 0
New Zealand
Phone 398 0
+64 9 3737599
Fax 398 0
+64 9 3737677
Email 398 0
t.cundy@auckland.ac.nz