Research

Our Research Team is led by Dr. Rahmat Adejumo.  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.

Sponsored Clinical Trials

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. NCT0277080

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 NCT03563053

Anesthesia in Patient with Mitochondrial Disease. PI:  Maria Matuszczak.  Funding:  UT Mitochondrial Center. NCT02053766

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:  Bioelectron Corporation. NCT01370447

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 Myopathy Followed by an Open-Label Extension. Site PI:  Mary Kay Koenig.  Funding:  Stealth BioTherapeutics. NCT03323749

A Randomized, Single-Blinded, Multicenter, Phase 1 Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of LAM-004 Topical Rapamycin in Patients with Facial Angiofibromas Associated with Tuberous Sclerosis Complex (TSC). Site PI:  Mary Kay Koenig.  Funding:  AI Therapeutics.

A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Study to Assess the Safety and Efficacy of UX007 in Subjects with Glucose Transporter Type 1 Deficiency Syndrome Previously: A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Adaptive Study to Assess the Safety and Efficacy of UX007 in Subjects with Glucose Transporter Type 1
Deficiency Syndrome. Site PI:  Mary Kay Koenig.  Funding: Ultragenyx. NCT01993186

Efficacy, safety, and tolerability of Fosmetpantotenate (RE-024), A phosphorpantothenate replacement therapy, in patients with pantothenate kinase-associated neurodegeneration (PKAN): A randomized, double-blind, placebo-controlled study with an open-label extension. Site PI:  Nivedita Thakur.  Funding:  Retrophin, Inc. NCT03041116

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    Funding:  TEVA Pharmaceuticals. NCT03813238

Preventing Epilepsy Using Vigabatrin in Infants with Tuberous Sclerosis Complex (PREVENT). Site PI:  Mary Kay Koenig. NCT02849457

Perinatal Arterial Stroke: A Multi-site RCT of Intensive Infant Rehabilitation (I-ACQUIRE).  Site PI:  Nivedita Thakur.  NCT03910075

Observational Studies

The International Registry for Leigh Syndrome (TRiaLS).  PI:  Rahmat Adejumo.  Funding:  People Against Leigh Syndrome. NCT03137355

Exploring the Emotional Dimensions and Coping Processes of Living with Mitochondrial Disease in Emerging Adulthood. PI:  Julie Riley (PhD student at Fielding Graduate University).

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

Unmet Needs, Flexibility, and Subjective Well-Being in Parents of Children with Diagnosed or Suspected Mitochondrial Disease. PI: Tess Gabert (Student at Rice University).

Changes in the Quality of Life for Patients Receiving Care in a Comprehensive Mitochondrial Care Center. PI:  Mary Kay Koenig.  Funding:  UT Mitochondrial Center.

Natural History of Patient with Leigh Syndrome. PI:  Rahmat Adejumo.  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.