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.
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- 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.
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.