Clinical Research Directory

Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)

This project aims to evaluate the safety and efficacy of precision genetic therapy for patients with Ataxia-telangiectasia (A-T), a rare neurodegenerative disease caused by mutations in the ATM gene. The investigators will conduct a clinical trial to study the safety and efficacy of intrathecal administration of atipeksen, a targeted genetic therapy that restores ATM gene function in A-T individuals bearing the recurrent ATM c.7865C\>T variant. The aim of this study is to delay or forestall progression of neurologic symptoms in A-T and improving quality of life. Success will provide an empirical foundation for advancing additional precision genetic therapies for A-T and other neurodegenerative conditions.

Open-Label Extension of EryDex Study IEDAT-04-2022

This is an international, multi-center, prospective, open-label, non-comparative study aiming to provide access to treatment with EryDex to ataxia telangiectasia (A-T) patients who completed the IEDAT-04-2022 trial which studied the neurological effects of EryDex on subjects with ataxia telangiectasia (NEAT trial).

The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics

The long-term goal of our PIC is to develop effective strategies that can be applied clinically at the point-of-care to prevent, intercept, or detect PDAC at an early stage, thereby reducing PDAC burden and saving lives.

NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.