Prevalence and Characterization of Pain in RASopathies
Conditions: RASopathy; Costello Syndrome; Cardio-Facio-Cutaneous Syndrome; Noonan Syndrome Interventions: Diagnostic Test: Characterization of pain Sponsors: Fondazione Policlinico Universitario Agostino Gemelli IRCCS Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - April 9, 2024 Category: Research Source Type: clinical trials
Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies
Conditions: RASopathy; Costello Syndrome; Noonan Syndrome; Cardio-Facio-Cutaneous Syndrome Interventions: Diagnostic Test: Diagnostic test Sponsors: Fondazione Policlinico Universitario Agostino Gemelli IRCCS Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - March 26, 2024 Category: Research Source Type: clinical trials
Lymphatic Phenotype in Noonan Syndrome Spectrum Disorders
Conditions: Lymphatic System Disorders Congenital; Lymphatic Diseases; Noonan Syndrome; Lymphatic Disease Interventions: Diagnostic Test: Dynamic contrast-enhanced lymphangiography Sponsors: Radboud University Medical Center Recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - February 20, 2024 Category: Research Source Type: clinical trials
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Conditions: Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including; Sickle Cell Disease; Cystic Fibrosis; Fragile X Syndrome; Proximal Spinal Muscular Atrophy; Myotonic Dystrophy; Muscular Dystrophy, Duchenne; Muscular Dystrophy, Becker; Neurofibromatosis-Noonan Syndrome; Huntington Disease; Hemophilia A; Hemophilia B; MODY2 Diabetes; X-Linked Hydrocephalus; Autosomal Recessive Polycystic Kidney Disease Interventions: Biological: Blood sample Sponsors: Assistance Publique - H ôpitaux de Paris Not yet recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - November 27, 2023 Category: Research Source Type: clinical trials
Improvement of synaptic plasticity and cognitive function in RASopathies —a monocentre, randomized, double-blind, parallel-group, placebo-controlled, cross-over clinical trial (SynCoRAS)
DiscussionThe study is targeting impairments in synaptic plasticity and cognitive impairment, one of the main health problems of patients with RASopathies. Recent first results with LOV in patients with NF1 have shown an improvement in synaptic plasticity and cognition. Within this clinical trial, it is investigated if these findings can be transferred to patients with NS. LTG is most likely a more effective and promising substance improving synaptic plasticity and, consecutively, cognitive function. It is expected that both substances are improving synaptic plasticity as well as alertness. Changes in alertness may be a pr...
Source: Trials - June 6, 2023 Category: Research Source Type: clinical trials
French Registry of Children Treated With Norditropin ® for Short Stature Associated With Noonan Syndrome
Condition: Noonan Syndrome Intervention: Drug: Norditropin Sponsor: Novo Nordisk A/S Enrolling by invitation (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - April 4, 2022 Category: Research Source Type: clinical trials
Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome
Condition: Noonan Syndrome Intervention: Biological: blood and urine sampling Sponsor: University Hospital, Toulouse Not yet recruiting (Source: ClinicalTrials.gov)
Source: ClinicalTrials.gov - January 21, 2022 Category: Research Source Type: clinical trials
