To identify new genetic defects in telomeropathies.
ID
Source
Brief title
Condition
- Haematological disorders NEC
- Respiratory disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Identification of new genetic defects associated with telomeropathies.
Secondary outcome
A study database and biobank for future research.
Background summary
Telomeropathies consist of a spectrum of disorders defined by short,
dysfunctional telomeres. Common clinical features of telomeropathies include
pulmonary, hepatic and bone marrow abnormalities. Genetic causes have been
identified in a proportion of these disorders. Mutations in the TERT and TERC
gene, of which the corresponding proteins are involved in the telomere repair
machinery, are the most commonly found defects in patients with
telomeropathies. However, there are families in which an autosomal dominant
inheritance pattern of clinical characteristics is seen, but in which no causal
genetic defect has been identified.
Study objective
To identify new genetic defects in telomeropathies.
Study design
We will use several genetic techniques, such as whole exome/genome sequencing
and RNA sequencing, to analyze the DNA of affected patients and non-affected
relatives. We will search for a genetic defect that is present in the affected
patients, but absent in the non-affected participants.
Study burden and risks
Burden is low (duration of research is short and the collection of blood and
skin tissue are relative simple procedures with no long-term disadvantages).
Research may lead to much new knowledge and could improve early diagnostics.
Dr. Molenwaterplein 40
Rotterdam 3015 GD
NL
Dr. Molenwaterplein 40
Rotterdam 3015 GD
NL
Listed location countries
Age
Inclusion criteria
Patients are diagnosed with interstitial pulmonary disease and/or a
hematological disorder and must have a positive family history (meaning at
least 1 relative with an interstitial pulmonary disease or hematological
disorder)
or
Patients are diagnosed with interstitial pulmonary disease and a hematological
disorder without a positive family history, Affected family members must be
diagnosed with an interstitial pulmonary disease and/or a hematological
disorder, Non-affected relatives and spouses will be included in the control
group
Exclusion criteria
Patients with severe physical or life threatening conditions
Design
Recruitment
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 | NL67382.078.18 |