Ignite Creation Date:
2024-10-26 @ 3:37 PM
Last Modification Date:
2024-10-26 @ 3:37 PM
Study NCT ID:
NCT06550635
Status:
COMPLETED
Last Update Posted:
None
First Post:
2019-06-05
Brief Title:
Joint and Hematologic Disorders of Noonan Syndrome French Descriptive Cross-sectional Study
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Joint and Hematologic Disorders of Noonan Syndrome French Descriptive Cross-sectional Study NOORHA
Status:
COMPLETED
Status Verified Date:
2020-06
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
NOORHA
Brief Summary:
Noonans syndrome is a rare genetic disease estimated to be between 1 1000 to 1 2500 and characterized by cardiothoracic malformations sometimes mental retardation but also by hematologic abnormalities and joint involvement These are poorly described in the literature The aim of this work is therefore to describe the frequency and type of these manifestations in the French pediatric population and to compare patients with and without these disorders
Detailed Description:
Noonan Syndrome is a genetic disease whose prevalence is not clearly defined and would be between 11000 and 12500
Affected patients have various morphological abnormalities cardiothoracic malformations sometimes mental retardation but also haematological abnormalities and joint damage
Diagnostic criteria have been proposed among which the most used are van der Burgts criteria
Genetics is heterogeneous A genetic abnormality can be found in 75 of cases Affected genes encode proteins involved in the RAS MAPK pathway Mitogen Activated Protein Kinase resulting in deregulation of this pathway The latter is involved in several development processes determining morphotype organogenesis synaptic plasticity and growth
There are also thoracic and abdominal deformities upper pectus carinatum and inferior excavatum large nipple spacing spinal deformities in 30 of cases with a recommended correction in 23 of the cases It is described ulna valgus and genuvalgum
Concerning haematological disorders
Children with Noonan Syndrome are predisposed to a number of hematologic abnormalities The most common haematological lesions are coagulopathies caused by a deficiency of coagulation factors or platelet dysfunction that seem to affect one third of patients
Concerning rheumatological disorders
Hemophilias due to recurrent bleeding may develop secondarily hemophilic arthropathies
There are several pediatric cases of granulomatous gigantocellular tumors and pigmented villonodular synovitis that are synovial proliferations affecting the joints tendon sheaths and bursae Villonodular synovitis is also a granulomatous giant cell lesion Unlike villonodular synovitis in the general population reported cases are frequently polyarticular The diffuse villonodular synovitis in the general population has an estimated frequency of 18 cases per million It is most often developed in adulthood 20-50 years but can also begin in childhood
There has been no description of arthritis or isolated arthralgia
Regarding abnormalities of bone metabolism even if there is a tendency to short stature and there are bone dysplasias little information is available regarding the mineralization and bone metabolism in Noonan syndrome An increase in bone resorption has been observed in the RAS-MAPK pathway and low bone mineral density has already been described in this population
Joint lesions and their evolution remain poorly described in the literature The early pediatric diagnosis of Noonans syndrome is important in detecting multiple organ damage Early management should improve joint functional prognosis
The objective of this work is therefore to evaluate the frequency and type of these events in the French pediatric population and to compare patients with and without these disorders and to observe the proposed treatments
Affected patients have various morphological abnormalities cardiothoracic malformations sometimes mental retardation but also haematological abnormalities and joint damage
Diagnostic criteria have been proposed among which the most used are van der Burgts criteria
Genetics is heterogeneous A genetic abnormality can be found in 75 of cases Affected genes encode proteins involved in the RAS MAPK pathway Mitogen Activated Protein Kinase resulting in deregulation of this pathway The latter is involved in several development processes determining morphotype organogenesis synaptic plasticity and growth
There are also thoracic and abdominal deformities upper pectus carinatum and inferior excavatum large nipple spacing spinal deformities in 30 of cases with a recommended correction in 23 of the cases It is described ulna valgus and genuvalgum
Concerning haematological disorders
Children with Noonan Syndrome are predisposed to a number of hematologic abnormalities The most common haematological lesions are coagulopathies caused by a deficiency of coagulation factors or platelet dysfunction that seem to affect one third of patients
Concerning rheumatological disorders
Hemophilias due to recurrent bleeding may develop secondarily hemophilic arthropathies
There are several pediatric cases of granulomatous gigantocellular tumors and pigmented villonodular synovitis that are synovial proliferations affecting the joints tendon sheaths and bursae Villonodular synovitis is also a granulomatous giant cell lesion Unlike villonodular synovitis in the general population reported cases are frequently polyarticular The diffuse villonodular synovitis in the general population has an estimated frequency of 18 cases per million It is most often developed in adulthood 20-50 years but can also begin in childhood
There has been no description of arthritis or isolated arthralgia
Regarding abnormalities of bone metabolism even if there is a tendency to short stature and there are bone dysplasias little information is available regarding the mineralization and bone metabolism in Noonan syndrome An increase in bone resorption has been observed in the RAS-MAPK pathway and low bone mineral density has already been described in this population
Joint lesions and their evolution remain poorly described in the literature The early pediatric diagnosis of Noonans syndrome is important in detecting multiple organ damage Early management should improve joint functional prognosis
The objective of this work is therefore to evaluate the frequency and type of these events in the French pediatric population and to compare patients with and without these disorders and to observe the proposed treatments
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None