Understanding pain in RASopathies
Pain in RASopathies: New Investigative Techniques and Possible Treatments
This study looks at how common and what kind of pain people with RASopathies experience to help improve their care and understanding of this symptom.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 150 (estimated) |
| Sex | All |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Locations | 1 site (Roma) |
| Trial ID | NCT06355622 on ClinicalTrials.gov |
What this trial studies
This study aims to assess the prevalence and characteristics of pain experienced by individuals with RASopathies, which are genetic syndromes linked to the RAS/MAPK pathway. It employs various methodologies including scales, questionnaires, biochemical analyses, and neurophysiological assessments to gather comprehensive data on pain. By focusing on this often-overlooked symptom, the study seeks to enhance understanding and management of pain in affected individuals.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with a clinically and molecularly confirmed diagnosis of a RASopathy.
Not a fit: Patients who do not have a confirmed diagnosis of a RASopathy will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved pain management strategies for patients with RASopathies.
How similar studies have performed: While pain in RASopathies has been under-researched, similar studies in other genetic conditions have shown that understanding pain can lead to significant improvements in patient care.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * All individuals with clinical and molecularly confirmed diagnosis of a RASopathy Exclusion Criteria: * Individuals with a RASopathy con confirmed by genetic analysis
Where this trial is running
Roma
- Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS — Roma, Italy (Recruiting)
Study contacts
- Principal investigator: Chiara Leoni, MD, PhD — Fondazione Policlinico A. Gemelli, IRCCS
- Study coordinator: Chiara Leoni, MD, PhD
- Email: chiara.leoni@policlinicogemelli.it
- Phone: 0039063381344
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.