1. Clinical characterisation of manifestations of aging in the affected individual.2. Understanding of the molecular and cellular mechanisms leading to the manifestations in this affected individual.
ID
Source
Brief title
Condition
- Congenital and hereditary disorders NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Detection of the gene causing the signs and symptoms in the individual with
possibly a decreased aging.
Secondary outcome
Understanding of the molecular and cellular mechanisms leading to the various
manifestations of in the presently studied individual.
Background summary
Recently we had the opportunity to investigate a young adult female with Down
syndrome with an extreme growth delay. In addition, she showed several signs
that would fit a delayed aging process. The present study aims at evaluation of
this individual in various ways.
Study objective
1. Clinical characterisation of manifestations of aging in the affected
individual.
2. Understanding of the molecular and cellular mechanisms leading to the
manifestations in this affected individual.
Study design
Observational study with invasive measurements.
Study burden and risks
For parents single blood sampling; small risk, mainly on local hematoma
formation.
For patient additional blood sampling and skin biopsy during general
anesthesia needed for patient care pruposes: very small burden if any.
No benefit voor patient or family. Information may be important for knowledge
re the process of aging in the general population.
Meibergdreef 9
Amsterdam 1105AZ
NL
Meibergdreef 9
Amsterdam 1105AZ
NL
Listed location countries
Age
Inclusion criteria
diagnosed with decreased aging (patient)
having a child with decreased aging (parents as controls)
family able to read and understand the written information
Exclusion criteria
none
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 | NL48683.018.14 |