Inheritance of Paget's Disease

Prevalence and skeletal extent on bone scintigraphy of Paget's disease in people inheriting mutations in the Sequestosome1 (SQSTM1) gene

Status

Completed

Phases

Unknown

Study type

Observational

Source

ANZCTR

Registry ID

ACTRN12605000294651

Enrollment

Registered

2005-09-05

Start date

2004-05-21

Completion date

2010-04-28

Last updated

2022-02-21

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

None listed

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.

Interventions

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.

Eligibility

Sex/Gender

All

Age

0 to No maximum

Healthy volunteers

Outcome results