The purpose of this study is to further unravel the genetic origin of these individual diseases and their relation at genes level.
ID
Source
Brief title
Condition
- Musculoskeletal and connective tissue disorders congenital
- Connective tissue disorders (excl congenital)
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Finding the causative gene(s) of the different fibromatosis. Increasing
understanding of the etiology/pathology of the diseases and there relation to
each other.
Secondary outcome
...
Background summary
Fibromatosis is a pathological diagnosis characterized by local proliferation
of fibroblasts and manifested clinically by soft tissue thickening. The most
common forms are Dupuytren's disease, Ledderhose's disease and Peyronie's
disease. It is thought that these diseases share the same etiology with a
hereditary component.
Several candidate susceptibility genes have been proposed lately for
Dupuytren's disease and Peyronie's disease.
Study objective
The purpose of this study is to further unravel the genetic origin of these
individual diseases and their relation at genes level.
Study design
The different fibromatosis will be studied by means of
1. gene expression analysis; DNA/RNA will be isolated from diseased tissue and
blood
2. pedigee analysis; DNA/RNA will be isolated from families (blood)
3. association study; DNA/RNA from blood
Study burden and risks
The burden and risks associated with participation are those of one
venapuncture and the application of a questionary.
Participation has no direct benefits for the subjects.
Hanzeplein 1
9700 RB Groningen
NL
Hanzeplein 1
9700 RB Groningen
NL
Listed location countries
Age
Inclusion criteria
Gene expression study:
1.Clinically confirmed diagnosis of Dupuytren*s, Peyronie*s or Ledderhose*s disease
2.Patient for which selective fasciectomy or plaque excision/biopsy is part of standard treatment
3.Evident cord AND node at physical examination (only for patients with Dupuytren*s disease)
4. Age >= 18;Gene expression study Dupuytren controls:
1.Confirmed diagnosis of Carpal Tunnel Syndrome
2.Patient for which carpal tunnel release is part of standard treatment
3.Age >= 18;Gene expression study Peyronie controls:
1.Patient receiving penile prosthesis implants for erectile dysfunction or patient having penis amputation
2.Age >= 18;Pedigree analysis and association study:
1.Clinically confirmed diagnosis of Dupuytren*s disease, Peyronie*s disease or Ledderhose*s disease
2.Having relatives with one of these diseases (only for pedigree analysis)
3.Age >= 18;Pedigree analysis family of proband:
1. Age >= 18;Association study controls:
1.Age >= 18
Exclusion criteria
Gene expression study:
1.Post-surgical recurrence
2.Patients unfit to undergo surgery;Gene expression study Dupuytren controls:
1.Diagnosis of Dupuytren*s, Peyronie*s or Ledderhose*s disease or a positive family history for one of these diseases;Gene expression study Peyronie controls:
1.Diagnosis of Dupuytren*s, Peyronie*s or Ledderhose*s disease or a positive family history for one of these diseases;Pedigree analysis and association study:
None;Pedigree analysis family of proband:
None;Association study controls:
1.Diagnosis of Dupuytren*s disease, Peyronie*s disease or Ledderhose*s disease or a positive family history for one of these diseases
Design
Recruitment
Medical products/devices used
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL16168.042.07 |