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

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON43197

Enrollment

100

Registered

2016-06-02

Start date

2016-05-01

Completion date

Unknown

Last updated

2024-04-23

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

Conditions

familiaire botaandoening osteitis deformans Paget

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: not willing to participate

Design outcomes

Primary

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

Measure

Time frame

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

—

Secondary

Measure	Time frame
Relationship between the presence of a SQSTM1 mutation and the development of clinical, biochemical and scintigraphic features of PDB In non-carieres new mutation analyses will be performed.	—

Countries

Netherlands

Outcome results