As we step into 2025, PTLS Hope Research Foundation is excited for what is looking to be an incredible year of progress for the PTLS community!

We’re thrilled to announce the Biomarker Study at Texas Children’s Hospital in Houston, Texas, aimed at identifying clinical and laboratory biomarkers to guide future genetic-based treatments is finally accepting its first patient!

We will be holding a Q&A session with Dr. Pehlivan on Date - TBC. Please send your questions in advance and we will make sure to get them answered. It will be a recorded zoom, so if you cannot make it we will share the link.

Biomarker Study Accepting FIRST PTLS Patient

This two-day study includes a physical exam, blood and skin biopsy(optional), and an overnight sleep study. Enrollment is limited to 20 PTLS and 20 SMS individuals of all ages with a confirmed RAI1 mutation.

While this study is not therapeutic, it plays a vital role in paving the way for future clinical trials. If you’re interested and meet the eligibility criteria, we encourage you to consider participating in this important research effort. Your involvement could make a significant difference in advancing treatments for PTLS and related disorders. Contact us at info@ptlshope.org for more info.

what are Bio-Markers? The broad definition of a genomic biomarker as a characteristic that can be objectively measured and evaluated as an indicator of normal biological or pathogenic processes as well as pharmacological responses to a therapeutic intervention.