CompletedNot Applicable

Lymphatic Phenotype in Noonan Syndrome Spectrum Disorders

Netherlands9 participantsStarted 2024-03-27

Plain-language 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

Who can participate

Age range18 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Noonan Syndrome confirmed by genetic test with a class 4 or 5 pathogenic variant according to ClinVar * 18 years and older (no restriction for sex) * Willing and able to have MR lymphangiography scanning in the Radboudumc * Oral and written informed consent * None of the exclusion criteria Exclusion Criteria: * 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

What they're measuring

Central lymphatic system anatomy and flow descriptive parameters.

Timeframe: Through study completion, an average of 1 year.

Diameter Thoracic duct

Timeframe: Through study completion, an average of 1 year.

Lymph flow velocity

Timeframe: Through study completion, an average of 1 year.

Trial details

NCT IDNCT06267807

SponsorRadboud University Medical Center

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2025-04-01

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