Actively Recruiting
Retrospective Natural History Study of RASopathy-associated Cardiomyopathy (RAS-CM)
Led by Deutsches Herzzentrum Muenchen · Updated on 2026-02-18
100
Participants Needed
1
Research Sites
80 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
RASopathy-associated hypertrophic cardiomyopathy (RAS-CM) is a disease with high morbidity and high mortality if presenting during infancy. Targeted therapies have shown significant activity in preclinical models and case reports. Drugs that target the underlying cause of this disease are now developed in cancer patients. Conducting randomized trials is not possible in severely ill infants with RAS-CM. Existing historical controls from older eras are not sufficient as external controls to support drug development as they lack critical clinical and genetic information to allow comparison with the cohort planned for future clinical trials. The purpose of this investigator-initiated retrospective natural history study is to collect clinical information and genetic information in patients with RAS-CM. The first goal is to establish a data set that meets regulatory requirements for the use as external control data in a future clinical trial, composing non-randomized, single-arm, open-label study cohorts. The second goal is to obtain natural history information that supports the selection of secondary exploratory endpoints chosen in a clinical trial.
CONDITIONS
Official Title
Retrospective Natural History Study of RASopathy-associated Cardiomyopathy (RAS-CM)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Molecular genetic diagnosis of a RASopathy with a pathogenic or likely pathogenic variant in RAS-MAPK pathway genes
- Imaging diagnosis of myocardial hypertrophy with maximal end-diastolic wall thickness z-score greater than 2
- Hospital admission for congestive heart failure between 01/01/2015 and 06/30/2019 or development of progressive congestive heart failure during any hospital stay within first 6 months of life
- Ross score greater than 2 indicating congestive heart failure without other causes for admission
You will not qualify if you...
- Receiving mechanistic Target of Rapamycin Inhibitor (mTOR inhibitor) or Mitogen-Activated Protein Kinase Kinase Inhibitor (MEK inhibitors)
- Inability to identify or calculate the Ross Score within the first six months of life
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
TUM Klinikum Deutsches Herzzentrum München
München, Germany, 80636
Actively Recruiting
Research Team
C
Cordula Prof. Wolf
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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