New treatment strategies for lymphatic problems in RASopathies

Translational approaches targeting RASopathy-associated lymphatic anomalies (TARGET): ERK-functionality, and immune profiling in PBMCs with ex vivo drug modulation - Targeting RASopathy-associated lymphatic anomalies

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON58447

Enrollment

Registered

2026-02-16

Start date

2026-10-01

Completion date

Unknown

Last updated

2026-03-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

RASopathy, Noonan Syndrome, Noonan Syndrome Spectrum disorders, Central lymphatic anomalies, central conducting lymphatic anomalies, lymphatic malformation RASopathy, Noonan Syndrome, Noonan Syndrome Spectrum disorders, Central lymphatic disorders

Interventions

During a routine scheduled appointment, a single blood sample will be taken. This is done at the same time as the regular blood draw for their care, so it does not create any extra burden. From this b

Eligibility

Age

12 Years to 64 Years

Inclusion criteria

Inclusion criteria: Noonan Syndrome confirmed by genetic test with a class 4 or 5 pathogenic variant according to ClinVarWritten informed consent by patient and/or legal representatives (which is applicable)

Exclusion criteria

Exclusion criteria: Receives experimental targeted therapy including sirolimus, trametinib and other RAS/MAPK or PI3K/AKT pathway inhibitors

Design outcomes

Primary

Measure	Time frame
Change in pERK1/2 levels (corrected for total ERK):Within the patient group (baseline)Compared with healthy volunteers (from another study)After treating the cells with inhibitory drugs	—

Secondary

Measure	Time frame
24 different inflammatory molecules in the blood	—

Countries

Netherlands

Contacts

Public ContactE.R. Kleimeier

Radboud Universitair Medisch Centrum

lotte.kleimeier@radboudumc.nl0243611111

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP) · Data processed: Mar 20, 2026