Familial Paget*s disease of bone: Long-term follow up of index families in the Netherlands

Conditions: familiaire botaandoening
osteitis deformans
Paget

Registration Number: NL-OMON43197

Lead Sponsor: Endocrinologie

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 100

Inclusion Criteria

All members of families with PDB who were previously identified and evaluated, including subjects already diagnosed with PDB, and who are willing to participate in this long-term follow-up study.

Exclusion Criteria

not willing to participate

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Active PDB is defined as elevated biochemical markers of bone turnover in the<br /><br>form of serum alkaline phosphatase (ALP) activity (in the presence of normal<br /><br>serum γGT), and/or elevated serum P1NP values, in addition to localised<br /><br>increased radioactive isotope uptake on Tc-99m skeletal scintigraphy.<br /><br>Therefore in all subjects with ALP and or P1NP levels above the upper limit of<br /><br>normal, a skeletal scintigram will be performed and if abnormal X-rays will be<br /><br>performed.<br /><br>In subjects harbouring the SQSTM1 gene mutations or skeletal complaints or a<br /><br>history of bisphosphonate use without increased bone formation markers<br /><br>radiological assessment will be performed as well to exclude active PDB. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Relationship between the presence of a SQSTM1 mutation and the development of<br /><br>clinical, biochemical and scintigraphic features of PDB<br /><br>In non-carieres new mutation analyses will be performed.<br /><br></p><br>