Dettagli per singolo studio

DEC-NET Serial number ES506

Published online	14/10/2005 14.57.00
Last updated	14/10/2005 15.48.24

Other protocol ID number
Current trial status	Open (actively recruiting new participants)
Major Disease (ICD9 class)	CONDITIONS DUE TO ANOMALY OF UNSPECIFIED CHROMOSOM
Gender	Both
Age (range)	There is no age range
Eligibility criteria
Inclusion criteria
A diagnosis of Noonan syndrome according to the van der Burgt criteria.
Exclusion criteria
Patients not willing to collaborate or whose parents do not sign the informed consent
Trial design/methodology
Phase	4
Kind of study
Design	Controlled
Purpose of study
To study the correlation between phenotype and genotype by the molecular analysis of the PTPN11 gene in all patients with a clinical diagnosis of Noonan Syndrome.




Summary of study design, objectives, and ongoing research findings
Design: Multicentre study of patient diagnosed with Noonan Syndrome in a representative area of Spain (Andalusia) in order to achieve in the future a better follow-up and control of this group of patients. Objectives: Primary objective: To study the correlation between phenotype and genotype by the molecular analysis of the PTPN11 gene in all patients with a clinical diagnosis of NS. Secondary objectives: To study patients diagnosed of NS from the laboratory and clinical viewpoints. Study of IGF-I, IGFBP-3, GH, GHBP, leptin, insulin, adiponectin and IGFBP-1 levels.