Massive study aims to unlock secrets of rare genetic disorders

NCT ID NCT04395495

Recruiting now Knowledge-focused Sponsor: Children's Hospital Medical Center, Cincinnati Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to learn more about how these disorders work, not to test a new treatment.

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Conditions

The condition(s) this trial relates to.

cardiofaciocutaneous syndrome Costello syndrome intellectual developmental disorder 62 intellectual disability, autosomal dominant 5 Legius syndrome macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome neurofibromatosis type 1 neurofibromatosis-Noonan syndrome Noonan syndrome Noonan syndrome with multiple lentigines RASopathy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

CARDIOFACIOCUTANEOUS SYNDROME COSTELLO SYNDROME DLG4 GATOR-1 GENE MUTATION LEGIUS SYNDROME MAPK1 GENE MUTATION MTOR GENE MUTATION NEUROFIBROMATOSIS 1 NOONAN NEUROFIBROMATOSIS SYNDROME NOONAN SYNDROME NOONAN SYNDROME WITH MULTIPLE LENTIGINES RAS MUTATION SMITH-KINGSMORE SYNDROME SYNGAP1-RELATED INTELLECTUAL DISABILITY

Contacts and locations

Locations

Cincinnati Children's Hospital Medical Center
RECRUITING

Cincinnati, Ohio, 45229, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.