Clinical Trial Details
— Status: Recruiting
Administrative data
NCT number |
NCT06267807 |
Other study ID # |
114369 |
Secondary ID |
NL84520.091.23 |
Status |
Recruiting |
Phase |
N/A
|
First received |
|
Last updated |
|
Start date |
March 27, 2024 |
Est. completion date |
June 1, 2025 |
Study information
Verified date |
January 2024 |
Source |
Radboud University Medical Center |
Contact |
n/a |
Is FDA regulated |
No |
Health authority |
|
Study type |
Interventional
|
Clinical Trial Summary
To get a better insight into the central conducting lymphatic system in adult volunteers with
Noonan Syndrome (NS) without clinical symptoms or signs of lymphatic disease compared to NS
and CardioFacioCutaan syndrome patients with severe lymphatic disease
Description:
Rationale: Noonan Syndrome Spectrum Disorders (NSSDs) are caused by pathogenic variants in
genes of the Ras/MAPK signaling pathway, and belong to the RASopathy.
Lymphatic disease occur in 36% of patients with Noonan Syndrome (NS) during their lifetime,
with different symptoms, severity, and onset. However, it is unknown how many patients with
RASopathy are exactly impaired with lymph flow disorders, since many of these patients have
unrecognized symptoms and go undiagnosed. For example, patients diagnosed with primary
lymphedema (which implies being without known etiologic cause) may have an anatomic or
functional abnormality of the central conducting lymph system that is not diagnosed as the
causative lymph flow problem. With the diagnosis being based on the symptoms and not on the
underlying pathophysiological mechanism, therapy will focus on diminishing symptoms and not
on healing the pathophysiological cause. To eventually improve therapeutic intervention, a
better understanding of the pathophysiology is necessary, and may be found by studying the
central conducting lymphatic system of patients with NS and lymphatic disease, and adult
volunteers with Noonan Syndrome without lymphatic disease. Objective: To get a better insight
into the central conducting lymphatic system in adult volunteers with Noonan Syndrome (NS)
without clinical symptoms or signs of lymphatic disease compared to NS and CardioFacioCutaan
syndrome patients with severe lymphatic disease and healthy volunteers. (ongoing study:
(Lymphomics; improving the understanding the anatomy of the lymphatic system and the
direction and velocity of lymph flow; approved by the Medical Ethics Committee at Radboud
University Medical Center Nijmegen file number 2021-7514) Study design: A single center,
prospective collection of data Study population: Adult volunteers with Noonan Syndrome
without (a history of) complaints or signs of lymphatic disease. Intervention: Three
questionnaires (general health, lymphatic abnormalities and general MRI safety) will be taken
prior to the dynamic MR lymphangiography. In addition to standard physical examination and
electronic patient file screening, for inclusion and exclusion purposes. Subsequently, the MR
lymphangiography will be performed. After 24 hours, the subject will be called for a
follow-up by phone. Main study parameters/endpoints: the anatomy of the central lymph
vessels, the velocity and direction of lymph flow, which can be compared with reference
values. Nature and extent of the burden and risks associated with participation, benefit and
group relatedness: Participation in this study places subjects at minimal risk. Subjects will
undergo placement of a small needle in an inguinal lymph node on both sides, with very little
risk of bleeding and/or infection, as with other minimal invasive procedures. The dynamic MR
lymphangiography will take approximately two hours