New test could end diagnostic limbo for families with rare diseases
NCT ID NCT07075107
Summary
This study aims to help diagnose patients with unexplained intellectual disability or muscle weakness by analyzing their RNA. Researchers will test a new method that looks at RNA from blood and skin samples to find genetic causes that standard DNA tests might miss. The goal is to provide answers to families who have been searching for a diagnosis.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes NO responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for RARE GENETIC DISEASE are added.
By submitting, you agree to our Terms of use
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Study contacts
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
-
Assistance publique - hôpitaux de Marseille
Marseille, Provence-Alpes-Côt-d'Azue, 13354, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
Conditions
Explore the condition pages connected to this study.