RecruitingACTRN12616001371482

Genetic link between Fibrous Dysplasia and Intramuscular Myxoma in patients suffering from Mazabraud syndrome

Genetic link between Fibrous Dysplasia and Intramuscular Myxoma in Mazabraud syndrome


Sponsor

Hollywood Private Hospital

Enrollment

4 participants

Start Date

Jun 1, 2017

Study Type

Observational

Conditions

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.


Eligibility

Sex: Both males and females

Plain Language Summary

Simplified for easier understanding

This genetic study is investigating whether fibrous dysplasia of bone and intramuscular myxoma (benign tumours in muscle) share the same underlying genetic cause in patients with Mazabraud syndrome — a very rare condition where both occur together. Understanding this link could lead to better management and monitoring for patients at increased risk of serious bone cancers. You may be eligible if: - You have been confirmed to have both intramuscular myxoma and fibrous dysplasia of bone (i.e., Mazabraud syndrome) - You are willing to provide a blood sample for genetic testing You may NOT be eligible if: - You have not been diagnosed with both conditions (only patients with confirmed Mazabraud syndrome are eligible) Talk to your doctor about whether this trial might be right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

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.

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.


Locations(1)

Hollywood Private Hospital - Nedlands

WA, Australia

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ACTRN12616001371482


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