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Trial registered on ANZCTR


Registration number
ACTRN12605000294651
Ethics application status
Approved
Date submitted
29/08/2005
Date registered
5/09/2005
Date last updated
11/02/2022
Date data sharing statement initially provided
11/02/2022
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
Sex
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
Completed
Date of first participant enrolment
Anticipated
1/03/2004
Actual
21/05/2004
Date of last participant enrolment
Anticipated
Actual
28/04/2010
Date of last data collection
Anticipated
Actual
1/12/2020
Sample size
Target
50
Accrual to date
Final
82
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
Country [1] 502 0
New Zealand
Primary sponsor type
Individual
Name
Professor Tim Cundy
Address
University of Auckland, Private Bag 92019, Auckland
Country
New Zealand
Secondary sponsor category [1] 411 0
University
Name [1] 411 0
University of Auckland Bone Research Group
Address [1] 411 0
University of Auckland, Private Bag 92019, Auckland
Country [1] 411 0
New Zealand

Ethics approval
Ethics application status
Approved
Ethics committee name [1] 1484 0
Auckland X Ethics Committee
Ethics committee address [1] 1484 0
Private Bag 92522, Auckland
Ethics committee country [1] 1484 0
New Zealand
Date submitted for ethics approval [1] 1484 0
Approval date [1] 1484 0
05/04/2004
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
Bolland MJ, Tong PC, Naot D, Callon KE, Wattie DJ, Gamble GD, Cundy T. Delayed Development of Paget's Disease in Offspring Inheriting SQSTM1 Mutations. J Bone Miner Res 2007;22:411-5.

Cundy T, Naot D, Bava U, Musson D, Tong PC, Bolland M. Familial Paget Disease and SQSTM1 Mutations in New Zealand. Calcif Tissue Int 2011;89:258-64

Cundy T, Rutland MD, Naot D, Bolland M. Evolution of Paget's disease of bone in adults inheriting SQSTM1 mutations. Clin Endocrinol (Oxf) 2015;83:315-9
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
[email protected]
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
[email protected]

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
No/undecided IPD sharing reason/comment


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

Documents added manually
No documents have been uploaded by study researchers.

Documents added automatically
No additional documents have been identified.