a. analysis of the utility of new molecular techniques in the diagnosis of tall stature, particularly the detection of small chromosomal disordersb. identification of genetic factors that cause tall stature, or influence its severityc. analysis of…
ID
Source
Brief title
Condition
- Other condition
Synonym
Health condition
lengtegroei
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
a. improved diagnosis for individuals with tall stature
b. identification of genetic factors concerned with tal; stature with or
without dysproportion
c. study of the potential value of proteomics techniques for the diagnosis of
tall stature
Secondary outcome
not applicable
Background summary
In most individuals with very tall stature its cause remains unknown, despite
thorough clinical and biochemical investigations. This protocol concerns a
long-lasting study aimed at improving diagnostic techniques, in order to
establish the cause of tall stature in a higher percentage. From a series of
patients with tall stature, blood will be taken and used for various molecular
analyses (systems biology). We expect that this approach will deliver a better
insight into the causes of tall stature
Study objective
a. analysis of the utility of new molecular techniques in the diagnosis of tall
stature, particularly the detection of small chromosomal disorders
b. identification of genetic factors that cause tall stature, or influence its
severity
c. analysis of protein profiles with proteomics techniques
Study design
a. DNA bank from individuals with tall stature will be established in order to
search for its etiology. To facilitate the detection of responsible genes also
DNA from the parents will be stored.
b. the material will be used for validating new molecular techniques as a
diagnostic instrument in tall stature
c. after establishing the diagnosis, the association of the protein profile
with the genetic disorder will be investigated
Study burden and risks
From individuals from group a blood will be taken once, and height will be
measured. From individuals from group b (parents) blood will be drawn.
Postbus 9600
2300 RC
Nederland
Postbus 9600
2300 RC
Nederland
Listed location countries
Age
Inclusion criteria
Height > +2.5 SDS
Exclusion criteria
known cause of tall stature
Design
Recruitment
metc-ldd@lumc.nl
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 | NL12566.058.06 |