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
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research focuses on RASopathy-associated hypertrophic cardiomyopathy (RAS-CM), a serious condition with high risk of illness and death when it appears in infancy. The study aims to collect detailed clinical and genetic data from patients with RAS-CM to create a comprehensive data set that can be used as external control information for future clinical trials. It also seeks to gather natural history information to help select additional outcome measures for upcoming studies. Participants in this observational study are patients with a genetic diagnosis of congenital RASopathy and hypertrophic cardiomyopathy who experienced heart failure. The study involves collecting and reviewing past clinical records and genetic test results from patients admitted between January 2015 and June 2019. This retrospective data collection helps build a detailed understanding of the disease course without administering any new treatments. During the study, researchers will analyze hospital admissions, heart function imaging, and genetic information to define important outcomes such as the one-year survival rate without heart transplant in infants who developed congestive heart failure within six months of life. This data will support future clinical trials by providing baseline comparisons and insights into disease progression. The study does not involve direct treatment and will rely on existing medical records for all assessments.
CONDITIONS
Brief 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 by echocardiography with maximal end-diastolic wall thickness z-score greater than 2, with or without outflow tract obstruction
- Admitted to hospital between 01/01/2015 and 06/30/2019 for congestive heart failure or developed progressive congestive heart failure during any hospital stay within the first 6 months of life
- Ross score greater than 2 calculated from medical history and physical exam notes confirming heart failure as reason for admission
You will not qualify if you...
- Receiving mechanistic Target of Rapamycin Inhibitor (mTOR inhibitor) and/or Mitogen-Activated Protein Kinase Kinase Inhibitor (MEK inhibitors)
- Unable to identify or calculate the patient's Ross Score within the first six months of life
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote)
Duration - Varies based on availability of records
Participants' past medical records and data related to RASopathy-associated cardiomyopathy are collected and reviewed.
No in-person visits; data collected from existing records
Trial Site Locations
Total: 1 location
1
TUM Klinikum Deutsches Herzzentrum München
München, Germany, 80636
Actively Recruiting
Research Team
C
Cordula Prof. Wolf
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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