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

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 Phase 3, Double-blind, Randomized, Placebo-controlled Trial of adjunctive ganaxolone (GNX) treatment in Children and Adults with  complex (TSC)-related epilepsy.  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.

An Open-Label, Safety study for previously treated Vatiquinone (PTC743) subjects with inherited mitochondrial disease. PI:  Mary Kay Koenig.  Funding:  PTC Therapeutics.

A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to evaluate the efficacy and safety of daily subcutaneous injections of elamipretide in subjects with primary mitochondrial disease resulting from pathogenic nuclear DNA mutations (nPMD). PI:  S. Nick Russo.  Funding:  Stealth Therapeutics.

A Phase 2B, Multicenter, 30-week, Prospective, Cross-over, Double-blind, Randomized, Placebo-controlled Study followed by a 52-week open-label extension study to evaluate the efficacy and safety of basimglurant adjunctive to ongoing anticonvulsive therapy in children and adolescents with uncontrolled seizures associated with Tuberous Sclerosis Complex. PI:  Mary Kay Koenig.  Funding:  Noema Pharma.

A Phase 3B Study to Evaluate Higher Dose Nusinersen in Patients with Spinal Muscular Atrophy Previously Treated with Risdiplam.  PI: Shade Moody.  Funding: Biogen Therapeutics.

A Multicenter, Double-Blind, Placebo-Controlled, Randomized Withdrawal Study to Evaluate the Safety and Maintenance of Efficacy of Ecopipam in Children, Adolescents and Adults with Tourette’s Disorder.  PI: S. Nick Russo.  Funding: Emalex Biosciences

An interventional, randomized, double-blind, parallel-group, placebo-controlled, flexible-dose, adaptive study of the efficacy of KL1333 in adult patients with primary mitochondrial disease (PMD). PI: Mary Kay Koenig. Funding: Abliva Pharma.

A Long-term Safety Study to Assess the Potential for Chronic Liver Injury in Participants Treated with Epidiolex (Cannabidiol) Oral Solution.  PI: Mary Kay Koenig.  Funding: Jazz Pharma.

Leigh Syndrome Natural History Study. PI: S. Nick Russo. Funding: UMDF.

A Phase 4, Interventional, Multicenter, Open-Label, Single-Arm Study to Assess Behavioral and Other Co-occurring Outcomes Following Treatment with EPID(I/Y)OLEX as Add-on Therapy in Participants (Aged 1 to 65 Years Old) With Seizures Associated With Tuberous Sclerosis Complex (EpiCom). PI: Sarah Wilson. Funding: Jazz Pharma

A Multi-Center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Neurological Effects of EryDex on subjects with Ataxia Telangiectasia. PI: S. Nick Russo.  Funding: Quince Therapeutics.

 

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.

Expanded Access use of Intra-Erythrocyte Dexamethasone Sodium Phosphate for patients diagnosed with Ataxia Telangiectasia (AT) who completed the PHase III IEDAT-02-2015 (ATTeST) study and its Open Label Extension (IEDAT-03-2018). PI:  Mary Kay Koenig.  Funding:  EryDel S.p.A.

 

CURRENT OBSERVATIONAL STUDIES

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

Mitochondrial Disease Related Mortality-evaluation of an international cohort. PI:  Mary Kay Koenig.  Funding:  MMS.

Leigh Syndrome Natural History Study. PI:  S. Nick Russo.  Funding:  UMDF/LSRP.

International Pediatric Stroke Study (IPSS). PI:  Stuart Fraser.  Funding:  The Auxilium Foundation.

 

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.