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Trial registered on ANZCTR


Registration number
ACTRN12616001371482
Ethics application status
Approved
Date submitted
29/09/2016
Date registered
4/10/2016
Date last updated
22/09/2017
Type of registration
Prospectively registered

Titles & IDs
Public title
Genetic link between Fibrous Dysplasia and Intramuscular Myxoma in patients suffering from Mazabraud syndrome
Scientific title
Genetic link between Fibrous Dysplasia and Intramuscular Myxoma in Mazabraud syndrome
Secondary ID [1] 290237 0
Nil known
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Mazabraud syndrome 300426 0
Condition category
Condition code
Musculoskeletal 300289 300289 0 0
Other muscular and skeletal disorders

Intervention/exposure
Study type
Observational
Patient registry
True
Target follow-up duration
1
Target follow-up type
Hours
Description of intervention(s) / exposure
4 cases of Mazabraud syndrome will be asked to give blood sample in pathology for genetic study.. Only a single blood sample will be taken from each participant.
Intervention code [1] 296016 0
Early Detection / Screening
Comparator / control treatment
No control group
Control group
Uncontrolled

Outcomes
Primary outcome [1] 299767 0
Finding common genetic mutations in patient suffering from both Fibrous Dysplasia and Intramuscular Myxoma, known as Mazabraud syndrome
Timepoint [1] 299767 0
One blood sample will be taken.
Secondary outcome [1] 328124 0
Knowing common genetic mutations will help in distinguishing fibrous dysplesia from malignant tumours
Timepoint [1] 328124 0
One blood sample will be taken.
Secondary outcome [2] 328125 0
Detecting those mutations which lead to fibrous dysplasia in those who are suffering from multiple intramuscular myxoma
Timepoint [2] 328125 0
One blood sample will be taken.

Eligibility
Key inclusion criteria
Patients with confirmed diagnosis of both Intramuscular Myxoma and Fibrous Dysplesia (which is known as Mazabraud syndrome)
Minimum age
No limit
Maximum age
No limit
Gender
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
Nil

Study design
Purpose
Duration
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 in Australia
Recruitment state(s)
WA
Recruitment hospital [1] 6749 0
Hollywood Private Hospital - Nedlands
Recruitment postcode(s) [1] 14393 0
6009 - Nedlands

Funding & Sponsors
Funding source category [1] 294602 0
Hospital
Name [1] 294602 0
Hollywood Private Hospital
Address [1] 294602 0
Monash Avenue, Nedlands, WA 6009
Country [1] 294602 0
Australia
Primary sponsor type
Hospital
Name
Hollywood Private Hospital
Address
Monash Avenue, Nedlands, WA 6009
Country
Australia
Secondary sponsor category [1] 293466 0
None
Name [1] 293466 0
Address [1] 293466 0
Country [1] 293466 0

Ethics approval
Ethics application status
Approved
Ethics committee name [1] 296045 0
Hollywood Private Hospital Ethic Committee
Ethics committee address [1] 296045 0
Monash Avenue, Nedlands, WA 6009
Ethics committee country [1] 296045 0
Australia
Date submitted for ethics approval [1] 296045 0
04/11/2016
Approval date [1] 296045 0
02/04/2017
Ethics approval number [1] 296045 0
HPH476

Summary
Brief summary
Mazabraud’s syndrome is a rare syndrome in which benign intramuscular myxomas occur in association with fibrous dysplasia of bone. (Macfarlane, Lew et al. 2007)
There is increased risk of developing osteosarcoma or fibrosarcoma in Fibrous Dysplasia with Mazabraud syndrome. The recognition of this entity is important for appropriate management of the patient.
In this project, we will perform genetic tests on 4 patients with Mazabraud syndrome to look for any genetic link between Fibrous Dysplasia (FD) and Intramuscular Myxoma (IM). In order to do genetic study, we need to arrange taking blood sample from these patients.
Trial website
Trial related presentations / publications
Public notes
Attachments [1] 2079 2079 0 0

Contacts
Principal investigator
Name 69338 0
Prof David Wood
Address 69338 0
Perth Orthopaedic Institute
Entrance 6, Verdun Street Nedlands WA 6009
Country 69338 0
Australia
Phone 69338 0
+61 8 9386 6211
Fax 69338 0
+61 8 9346 6462
Email 69338 0
David.wood@uwa.edu.au
Contact person for public queries
Name 69339 0
Dr Mohammad Rasouli
Address 69339 0
Perth Orthopaedic Institute
Entrance 6, Verdun Street Nedlands WA 6009
Country 69339 0
Australia
Phone 69339 0
+61 420 552 959
Fax 69339 0
Email 69339 0
Rasoulimd1983@gmail.com
Contact person for scientific queries
Name 69340 0
Dr Mohammad Rasouli
Address 69340 0
Perth Orthopaedic Institute
Entrance 6, Verdun Street Nedlands WA 6009
Country 69340 0
Australia
Phone 69340 0
+61 420 552 959
Fax 69340 0
Email 69340 0
Rasoulimd1983@gmail.com

No information has been provided regarding IPD availability
Summary results
No Results