NCT07344480Recruiting
Retrospective Natural History Study of RASopathy-associated Cardiomyopathy (RAS-CM)
Source: ClinicalTrials.gov · Last updated 18 Feb 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 100 (estimated)
- First submitted
- 7 Jan 2026
- Start date
- 17 Jun 2025
- Primary completion date
- 31 Dec 2026
- Lead sponsor
- Deutsches Herzzentrum Muenchen
- Diseases
- Heart failure, Hypertrophic cardiomyopathy
- NCT number
- NCT07344480
What you commit to
- Study type: Observational
- Planned participants: 100
- From 17 Jun 2025 to the primary completion date, 31 Dec 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Receiving mechanistic Target of Rapamycin Inhibitor (mTOR inhibitor) and/or Mitogen-Activated Protein Kinase Kinase Inhibitor (MEK inhibitors)
Other
- Inability to identify or retrospectively calculate the patient´s Ross Score within the first six months of life
Who the study is looking for
- 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
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| TUM Klinikum - Deutsches Herzzentrum München Coordinator of this site? Confirm its status | München | Germany | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.