Lymphatic Phenotype in Noonan Syndrome Spectrum Disorders

NCT06267807 | Completed DMC

• 2 other identifiers: 114369NL84520.091.23
• Study Type: interventional
• Target: 9
• Locations: 1 country
• Sites: 1

Brief 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

Conditions

Lymphatic System Disorders Congenital; Lymphatic Diseases; Noonan Syndrome; Lymphatic Disease

Outcome Measures

Primary Outcomes (3)

• Central lymphatic system anatomy and flow descriptive parameters.

  Categorical assessment of the anatomy and lymphatic flow in the central lymphatic system. Including the presence or absence of the central lymphatic vessels, edema and fluid collections.

  Through study completion, an average of 1 year.

• Diameter Thoracic duct

  Measurements consist of the maximal diameter of the thoracic duct, the diameter at the level of the diaphragm, and the width and length of the cisterna chyli.

  Through study completion, an average of 1 year.

• Lymph flow velocity

  Lymph flow velocity will be determined on the dynamic MR lymphangiography by measuring the distance of contrast movement covered over time in cm/min.

  Through study completion, an average of 1 year.

Other Outcomes (6)

• Demographics age

  Demographics will be assessed before the start of the scan

• Demographics gender

  Demographics will be assessed before the start of the scan

• Demographics

  Demographics will be assessed before the start of the scan

Study Arms (1)

MR lymphangiography contrast injection

OTHER

GBCM will be administered. Any routinely used macrocyclic GBCM can be used for MR lymphangiography, we generally use Dotarem® (Gadoteric acid- gadoterate meglumine). The dose used is the same standard dose of 0.1 mmol/kg of body weight used for routine intravenous injection. The guidelines and precautions used for intravenous injection of GBCM, should be followed for MR lymphangiography. Subsequently, post-contrast imaging is performed (again, this will take around 20 minutes)

Diagnostic Test: Dynamic contrast-enhanced lymphangiography

Interventions

Dynamic contrast-enhanced lymphangiography DIAGNOSTIC_TEST

The subject is placed supine on a detachable MR imaging table, outside the scanning room. Both inguinal regions are prepared under sterile conditions. Using Ultrasound guidance, the thoracic duct outlet at the left venous angle is identified. Under US guidance, a small 25 gauge needle is placed at the corticomedullar junction of an inguinal lymph node on each side. The needle position is confirmed and checked that there is no extravasation at saline injection under US visualization. The subject is then transferred to the MR imaging machine. First, pre-contrast imaging is performed, this takes around 20 minutes.

Also known as: MR lymphangiography

MR lymphangiography contrast injection

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Noonan Syndrome confirmed by genetic test with a class 4 or 5 pathogenic variant according to ClinVar
• years and older (no restriction for sex)
• Willing and able to have MR lymphangiography scanning in the Radboudumc
• Oral and written informed consent

You may not qualify if:

• unsuitable for MRI (e.g. metallic objects in the body, severe claustrophobia)
• A history of symptoms related to lymphatic disease
• pregnancy
• renal insufficiency
• liver cirrhosis
• History of surgery related to cardiovascular disease with hemodynamic consequence
• Other genetic diseases

Sponsors & Collaborators

• Radboud University Medical Center: lead

Study Sites (1)

Radboudumc

Nijmegen, Gelderland, 6500 HB, Netherlands

Location

MeSH Terms

Conditions

Lymphatic Diseases; Noonan Syndrome

Condition Hierarchy (Ancestors)

Hemic and Lymphatic Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 18, 2024
• First Posted: February 20, 2024
• Study Start: March 27, 2024
• Primary Completion: April 1, 2025
• Study Completion: April 1, 2025
• Last Updated: April 25, 2025

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

NL (1)