Ignite Creation Date:
2025-12-24 @ 10:20 PM
Ignite Modification Date:
2026-01-09 @ 11:56 PM
Study NCT ID:
NCT06550635
Status:
COMPLETED
Last Update Posted:
2024-08-13
First Post:
2019-06-05
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Joint and Hematologic Disorders of Noonan Syndrome: French Descriptive Cross-sectional Study
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D009634', 'term': 'Noonan Syndrome'}], 'ancestors': [{'id': 'D019465', 'term': 'Craniofacial Abnormalities'}, {'id': 'D009139', 'term': 'Musculoskeletal Abnormalities'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D006330', 'term': 'Heart Defects, Congenital'}, {'id': 'D018376', 'term': 'Cardiovascular Abnormalities'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 71}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2019-07-02', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2020-06', 'completionDateStruct': {'date': '2020-03-28', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2024-08-08', 'studyFirstSubmitDate': '2019-06-05', 'studyFirstSubmitQcDate': '2024-08-08', 'lastUpdatePostDateStruct': {'date': '2024-08-13', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-08-13', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2020-03-28', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Description of joint and hematologic disorders in patients with Noonan syndrome clinically confirmed by Van der Burgt criteria.', 'timeFrame': 'Inclusion (Day 0)', 'description': 'Joint disorders'}, {'measure': 'Description of joint and hematologic disorders in patients with Noonan syndrome clinically confirmed by Van der Burgt criteria.', 'timeFrame': 'Inclusion (Day 0)', 'description': 'hematologic disorders'}], 'secondaryOutcomes': [{'measure': 'Comparison of patients with and without joint involvement.', 'timeFrame': 'Inclusion (Day 0), Each year', 'description': 'Comparison of patients with and without joint involvement.'}, {'measure': 'Comparison of patients with and without joint involvement.', 'timeFrame': 'Inclusion (Day 0), Each year', 'description': 'Evolution of joint damage with and without treatment.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Noonan Syndrome']}, 'descriptionModule': {'briefSummary': "Noonan's 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.", 'detailedDescription': "Noonan Syndrome is a genetic disease whose prevalence is not clearly defined and would be between 1/1000 and 1/2500.\n\nAffected patients have various morphological abnormalities, cardiothoracic malformations, sometimes mental retardation, but also haematological abnormalities and joint damage.\n\nDiagnostic criteria have been proposed among which, the most used are van der Burgt's criteria.\n\nGenetics 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.\n\nThere 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 2/3 of the cases. It is described ulna valgus and genuvalgum.\n\nConcerning haematological disorders:\n\nChildren 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.\n\nConcerning rheumatological disorders:\n\nHemophilias, due to recurrent bleeding, may develop secondarily hemophilic arthropathies.\n\nThere 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 1.8 cases per million. It is most often developed in adulthood (20-50 years), but can also begin in childhood.\n\nThere has been no description of arthritis or isolated arthralgia.\n\nRegarding 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.\n\nJoint lesions and their evolution remain poorly described in the literature. The early pediatric diagnosis of Noonan's syndrome is important in detecting multiple organ damage. Early management should improve joint functional prognosis.\n\nThe 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."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '20 Years', 'minimumAge': '0 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'French pediatric population, followed for a syndrome of Noonan clinically confirmed by the criteria of Van der Burgt.', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Patients ≤ 20 years at the time of diagnosis\n* Noonan syndrome confirmed by van der Burgt score\n* At least one consultation in the participating center\n\nExclusion Criteria:\n\n* Patient \\> 20 years old at the time of diagnosis\n* Absence of diagnostic criteria for van der Burgt's Noonan syndrome\n* Other rasopathies\n* Genetic mutations of MEK1, MEK2 and HRAS (which are associated with cardi-faci-cutaneous syndrome and Costello syndrome)\n* Refusal of participation in the study"}, 'identificationModule': {'nctId': 'NCT06550635', 'acronym': 'NOORHA', 'briefTitle': 'Joint and Hematologic Disorders of Noonan Syndrome: French Descriptive Cross-sectional Study', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Brest'}, 'officialTitle': 'Joint and Hematologic Disorders of Noonan Syndrome: French Descriptive Cross-sectional Study (NOORHA)', 'orgStudyIdInfo': {'id': 'NOORHA (29BRC19.0038)'}}, 'contactsLocationsModule': {'locations': [{'zip': '29609', 'city': 'Brest', 'country': 'France', 'facility': 'CHRU de Brest', 'geoPoint': {'lat': 48.39029, 'lon': -4.48628}}, {'zip': '14033', 'city': 'Caen', 'country': 'France', 'facility': 'CHU de Caen', 'geoPoint': {'lat': 49.18585, 'lon': -0.35912}}, {'zip': '44093', 'city': 'Nantes', 'country': 'France', 'facility': 'CHU de Nantes', 'geoPoint': {'lat': 47.21725, 'lon': -1.55336}}, {'zip': '31000', 'city': 'Toulouse', 'country': 'France', 'facility': 'CHU de Toulouse', 'geoPoint': {'lat': 43.60426, 'lon': 1.44367}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Brest', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}