Clinical Trials Logo
  1. Home
  2. Noonan Syndrome
  3. NCT06355622
  4. Details
NCT06355622 Clinical Trial

Prevalence and Characterization of Pain in RASopathies

Noonan Syndrome Clinical Trial

— 3717  

Official title:
Pain in RASopathies: New Investigative Techniques and Possible Treatments

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT06355622
Other study ID # 3717
Secondary ID
Status Recruiting
Phase N/A
First received
Last updated
Start date January 27, 2021
Est. completion date June 30, 2024

Study information
Verified date March 2024
Source Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Contact Chiara Leoni, MD, PhD
Phone 0039063381344
Email chiara.leoni@policlinicogemelli.it
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial Summary

RASopathies are a group of syndromes caused by variants in genes belonging to the RAS/MAPK pathway. Pain is a neglected topic in RASopathies but it is frequently complained by affected individuals.

Description:

To detect prevalence and characteristics of pain in RASopathies by using scales, questionnaires, biochemical analysis and neurophysiological assessment tests.

Recruitment information / eligibility
Status Recruiting
Enrollment 150
Est. completion date June 30, 2024
Est. primary completion date January 30, 2024
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility Inclusion Criteria: - All individuals with clinical and molecularly confirmed diagnosis of a RASopathy Exclusion Criteria: - Individuals with a RASopathy con confirmed by genetic analysis

Study Design

Related Conditions & MeSH terms

Intervention

Diagnostic Test:
• Characterization of pain
Standardized scales and questionnaires to detect and characterize pain, blood sample for pain biomarkers, neurophysiological tests

Locations
Country Name City State
Italy Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS Roma

Sponsors (1)
Lead Sponsor Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Country where clinical trial is conducted

Italy, 

Outcome
Type Measure Description Time frame Safety issue
Primary Prevalence of pain in verbal patients with RASopathies To detect the prevalence of pain in verbal patients with RASopathies by using VAS (visual analogue scale) or NRS (numeric rating sclae). Both scales include a range from 0 to 10 where 0 represents no pain, 1-3 range represents mild pain, 4-6 range represents moderate pain and 7-10 range represents severe pain. 2 years
Primary Prevalence of Pain in no-communitating patients with RASopathies To detect the prevalence of pain in no-communicating patients with RASopathies by using FLACC scale. The FLACC Scale includes 5 behavioral categories: facial expression, leg movement, bodily activity, cry or verbalization, and consolability. The parents rated their child's pain at its worst within the preceding 24 h in each category on a scale of 0 to 2, thus an overall pain score ranging from 0 to 10. 2 years
Secondary Characterization of pain in RASopathies To detect pain location (one site or multiple body sites) by showing a body map (front and back) 2 years
See also
  Status Clinical Trial Phase
Completed NCT01529944 - Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658 Phase 3
Completed NCT00452725 - Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome Phase 3
Recruiting NCT05761314 - Solid Tumors in RASopathies N/A
Recruiting NCT04463316 - GROWing Up With Rare GENEtic Syndromes
Recruiting NCT06267807 - Lymphatic Phenotype in Noonan Syndrome Spectrum Disorders N/A
Enrolling by invitation NCT05308927 - French Registry of Children Treated With Norditropin® for Short Stature Associated With Noonan Syndrome
Recruiting NCT04395495 - RASopathy Biorepository
Completed NCT01529840 - Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome Phase 3
Recruiting NCT05202210 - Constitution of a Biological Collection to Study the Pathophysiology in Noonan Syndrome
Completed NCT02713945 - Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan Syndrome Phase 3
Recruiting NCT05361811 - Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial N/A
Completed NCT03435627 - Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome)
Recruiting NCT05723835 - A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9 Phase 3
Completed NCT02486731 - Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes
Completed NCT01927861 - Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome Phase 3
Recruiting NCT04888936 - Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
Recruiting NCT06331117 - Effect of RAS/MAPK Pathway Hyperactivation on Growth' and Bone' Profile of the RASopathies N/A
Completed NCT00960128 - Observational Prospective Study on Patients Treated With Norditropin® N/A
Terminated NCT00351221 - Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan Syndrome Phase 2