NCT07344480

Retrospective Natural History Study of RASopathy-associated Cardiomyopathy (RAS-CM)

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Deutsches Herzzentrum Muenchen · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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

• Hypertrophic Cardiomyopathy (HCM)
• Heart Failure
• RASopathy

Interventions

Type	Name	Description
OTHER	Retrospective data collection	Retrospective data collection, observation group are patients with genetic diagnosis of congenital RASopathy with hypertrophic cardiomyopathy and heart failure

Timeline

• Start date: 2025-06-17
• Primary completion: 2026-12-31
• Completion: 2026-12-31
• First posted: 2026-01-15
• Last updated: 2026-02-18

Locations

1 site across 1 country: Germany