Research

The Center actively participates in a variety of clinical studies including expanded access programs, patient registries, natural history studies, and investigational clinical trials.  This work investigates groundbreaking therapies to find treatment, and ultimately cures, for devastating genetic neurodegenerative diseases of childhood. 

For More Information Contact: 713.500.7164.

CURRENT INTERVENTIONAL STUDIES

Open-label, Long-term, Extension Treatment using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients with Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 (OLE-IEDAT).  Site PI:  Mary Kay Koenig.  Funding: EryDel, S.p.A.

Emergency Use Protocol for EPI-743 in Acutely Ill Patients with Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care.  Site PI:  Mary Kay Koenig.  Funding:  PTC Therapeutics.

A Randomized, Double-Blind, Placebo-Controlled Study of TEV-50717 (Deutetrabenazine) for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents (RECLAIM-DCP).  Site PI:  S. Nick Russo.  Funding:  TEVA Pharmaceuticals.

Open-label extension for RECLAIM-DCP study for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents with TEV-50717.  Site PI:  S. Nick Russo.  Funding:  TEVA Pharmaceuticals.

Preventing Epilepsy Using Vigabatrin in Infants with Tuberous Sclerosis Complex (PREVENT).  Site PI:  Mary Kay Koenig.  Funding:  NIH.

BioE743-19-011: Safety and Efficacy of Vatiquinone for the Treatment of Mitochondrial Disease Patients with Refractory Epilepsy.  Site PI:  Mary Kay Koenig.  Funding:  PTC Therapeutics.

CALM Study.  An open-label Phase 2 trial of adjunctive ganaxolone (GNX) treatment (part A) in tuberous sclerosis complex (TSC)-related epilepsy followed by long term treatment (Part B).  Site PI:  Mary Kay Koenig.  Funding:  Marinus Pharmaceuticals.

A Multicenter, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Study with Open-Label Extension Phase of Lorcaserin as Adjunctive Treatment in Subjects with Dravet Syndrome.  Site PI:  Jeremy Lankford.  Sponsor:  Eisai Inc.

Child to Adult Neurodevelopment in Gene Expanded Huntington’s Disease.  Site PI:  Erin Furr-Stimming.  Funding:  NIH.

A Randomized, Double-blind, Placebo-controlled Adaptive Phase 2/3 Study With Open-label Extension to Assess the Efficacy, Safety and Tolerability of ASP0367 in Participants With Primary Mitochondrial Myopathy (Mountainside).  Site PI: Mary Kay Koenig.  Funding: Astellas Pharma Inc.

 

EXPANDED ACCESS STUDIES

Compassionate Use of Triheptanoin for LIPT1-related disease.  PI:  Mary Kay Koenig.  Funding:  Ultragenyx.

Elamipratide Expanded Access for patients with Mitochondrial Myopathy.  SPIES-006.  Site PI: Mary Kay Koenig.  Funding: Stealth Biotherapeutics.

MT-1620 Expanded Access for patient with TK2 Deficiency.  PI: S. Nick Russo.  Funding: Zogenix.

 

CURRENT OBSERVATIONAL STUDIES

Mitochondrial Disease associated Mood Disorders.  PI: Joao L. de Quevedo.  Funding:  UT Mitochondrial Center.

 

BIOREPOSITORIES & REGISTRIES

Mitochondrial Specimen Banking.  PI:  Mary Kay Koenig.  Funding:  UT Mitochondrial Center.

Mitochondrial Database.  PI:  Mary Kay Koenig.  Funding:  UT Mitochondrial Center.

The International Registry for Leigh Syndrome (TRiaLS).  PI:  Mary Kay Koenig.  Funding:  People Against Leigh Syndrome.

 

PATENTS/LICENSES

Dr. Koenig is listed as an inventor on a patent application held by the Board of Regents of the University of Texas System for a topical composition of rapamycin for the treatment of facial angiofibromas.  This IP is covered under a license agreement with AI Therapeutics.