Genetic analysis of Café-au-Lait skin cells and their potential to develop into FD/MAS affected bones

Genetic analysis of Café-au-Lait skin cells and their potential to develop into FD/MAS affected bones - A human bone model of FD/MAS from skin biopsies

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON49146

Enrollment

Registered

2020-12-18

Start date

2021-06-14

Completion date

Unknown

Last updated

2024-04-15

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

Conditions

Fibrous Dysplasia (FD) McCune-Albright Syndrome (MAS)

Interventions

None listed

Eligibility

Age

12 Years to 99 Years

Inclusion criteria

Inclusion criteria: Patients who have been diagnosed with Mc-Cune Albright Syndrome (MAS) and are aged between 16 and 70.

Exclusion criteria

Exclusion criteria: - Mentally incapable - Hospitalized - Using anticoagulants - Coagulation disorder - Viral infection - Sudden health problems - All Café-au-Lait skin macules have been treated with laser therapy - Currently participating in another study parallel to this study - Allergies for components of local anaesthesia - Topical corticosteroids used less than two weeks prior to skin biopsies

Design outcomes

Primary

Measure	Time frame
The primary outcome of this study is the identification of the GNAS gene mutation in epidermal and/or dermal cells from hyperpigmented skin (Café region), non-hyperpigmented skin (Lait region) and from birthmarks, all donated by FD/MAS patients.	—

Secondary

Measure	Time frame
The secondary outcome consists of the osteogenic transdifferentiation potential and the functional characteristics of these osteogenic cells.	—

Countries

Netherlands

Outcome results