Research

The Center actively participates in a variety of clinical studies including single-use INDs, 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

    A Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Effects of Intra-Erythrocyte Dexamethasone Sodium Phosphate on Neurological Symptoms in Patients with Ataxia Telangiectasia (ATTeST).  Site PI:  Mary Kay Koenig.  Funding: EryDel, S.p.A.

    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.

    Anesthesia in Patient with Mitochondrial Disease.  PI:  Maria Matuszczak.  Funding:  UT Mitochondrial Center.

    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:  Nivedita  Thakur.  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:  Nivedita  Thakur.  Funding:  TEVA Pharmaceuticals.

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

    Perinatal Arterial Stroke:  A Multi-site RCT of Intensive Infant Rehabilitation (I-ACQUIRE).  Site PI:  Nivedita Thakur.  Funding:  NIH.

    BioE743-19-011: Safety and Efficacy of Vatiquinone for the Treatment of Mitochondrial Disease Patients with Refractory Epilepsy.  Site PI:  Nivedita Thakur.  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.

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

    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.

     

    SINGLE-USE IND STUDIES

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

     

    CURRENT OBSERVATIONAL STUDIES

    Proteinuria as a Biomarker of renal dysfunction in mitochondrial disease.  PI:  Mary Kay Koenig.  Funding:  UT Mitochondrial Center.

    Neuroimaging in Patient with Leigh Syndrome.  PI:  Eliana Bonfonte.  Funding:  UT Mitochondrial Center.

    Validation of Fatigue Outcome Measures for Mitochondrial Disease for Clinical Use.  Site PI:  Mary Kay Koenig.  Funding: UT Mitochondrial Center.

    MCN Patient Needs Analysis Survey.  Site PI:  Mary Kay Koenig.  Funding: Mitochondrial Care Network.

    Developmental Synaptopathies Associated with TSC, PTEN, and SHANK3 (RDCNR).  Site PI:  Hope Northrup.  Funding:  NIH.

    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:  Rahmat Adejumo.  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.