Natural history of RASopathy-associated cardiomyopathy in infants and children

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This retrospective effort gathers clinical, imaging, and genetic data from patients with molecularly confirmed RASopathies who developed myocardial hypertrophy and were hospitalized between 01/01/2015 and 06/30/2019. Eligible cases require a pathogenic or likely pathogenic variant in a RAS‑MAPK gene and echocardiographic evidence of hypertrophy (z-score > 2), including those with congestive heart failure or progression to heart failure within the first six months of life. Patients who received mTOR or MEK inhibitors are excluded. The goal is to build a well-characterized dataset that meets regulatory expectations to serve as external control data for single-arm trials of targeted therapies in severely ill infants with RAS-CM.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Molecular genetic diagnosis of a RASopathy (i.e., a pathogenic or likely pathogenic variant in one of the RAS-MAPK pathway genes identified, irrespective of when performed)
* Imaging diagnosis of myocardial hypertrophy (echocardiography) showing a maximal end-diastolic wall thickness of greater than normal (z-score \> 2) with or without outflow tract obstruction
* Admitted to hospital between 01/01/2015 and 06/30/2019 for congestive heart failure\* or developing progressive congestive heart failure during any hospital stay within first 6 months of life\*\*

  * Ross score calculated from medical history and physical examination notes in the absence of any other reason prompting hospital admission (e.g., elective procedure, other organ dysfunction, etc.); \*\*: defined by Ross Score greater than 2

Exclusion Criteria:

* Receiving mechanistic Target of Rapamycin Inhibitor (mTOR inhibitor) and/or Mitogen-Activated Protein Kinase Kinase Inhibitor (MEK inhibitors)
* Inability to identify or retrospectively calculate the patient´s Ross Score within the first six months of life

Where it's running

• TUM Klinikum Deutsches Herzzentrum München
  München, Germany Recruiting

Study contacts

• Study coordinator: Cordula Prof. Wolf
• Email: wolf@dhm.mhn.de
• Phone: +49 89 1218-2441

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.