Patient Registry

SAMD9 and SAMD9L syndromes are rare diseases with not well understood phenotype spectrum, genetics, and clinical outcomes. The interpretation of variants in SAMD9/SAMD9L is challenging and most of the pedigrees have private mutations. To learn more about causes, natural history, prognostic markers, and treatment outcomes of SAMD9/SAMD9L patients, we offer enrollment in our research study.

The study has been approved by St. Jude IRB (20-0626 - SAMD9 and SAMD9L Mutational Registry) and has a waiver of consent because no identifiable personal information will be recorded. Please see study flyer.

We also offer genetic and clinical consultations in our weekly conferences.

If you or your patient is interested in participating, please write us an email to: samd9@stjude.org