Clinical trials: Mitochondrial Pathology
Rare Diseases, Mitochondrial Diseases
A Multi-Dimensional Model of cAre and transItion for Patients With cOmplex RAre Diseases
Over the past century, the progress in biomedical sciences gave outstanding contributions to the understanding of human conditions, and even curing some of them.
- Conditions
- Rare Diseases, Mitochondrial Diseases, Muscular Dystrophies, Dysmorphic Disorder, Body
- Trial name
- AD-MAIORA (NCT07558213)
- Testing
- Etiopathogenetic diagnosis, Functional diagnosis
- Where
- Italy
- Volunteers
- 136 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Mitochondrial Diseases, Drug Resistant Epilepsy
A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
This is a parallel-arm, double-blind, placebo-controlled study with a screening phase that includes a 28-day run-in phase to establish baseline seizure frequency, followed by a 24-week, randomized, placebo-controlled phase.
- Conditions
- Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome
- Trial name
- MIT-E (NCT04378075)
- Testing
- Vatiquinone
- Where
- 27 sites in United States, Canada and 7 more
- Volunteers
- 68 people
- Sponsor
- PTC Therapeutics
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Friedreich Ataxia
Safety Study of Idebenone to Treat Friedreich's Ataxia
This study will determine the highest dose of idebonone that can safely be given to patients with Friedrich's ataxia, an inherited degenerative disease that causes loss of muscle coordination, speech problems, weakness and…
- Trial name
- NCT00015808
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Complication of Anesthesia, Ischaemia-reperfusion Injury
Dexmedetomidine Effect on Mitochondrial Function
The investigators hypothesize that in addition to a known sympatholytic effect, intraoperative dexmedetomidine reduces adverse changes in mitochondrial function and structure attenuating ischaemia-reperfusion and end-organ injury…
- Trial name
- NCT02299063
- Testing
- Dexmedetomidine, 0.9% NaCl
- Where
- Canada
- Volunteers
- 36 people
- Sponsor
- The Hospital for Sick Children
Pyruvate Dehydrogenase Complex Deficiency Disease
Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)
This is a phase II, multicenter, prospective, non-comparative clinical trial to assess the efficacy and safety of the treatment of pyruvate dehydrogenase deficiency (PDH) patients with glycerol phenylbutyrate (Ravicti®).
- Trial name
- PDH-RAVICTI (NCT06887777)
- Testing
- Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]
- Where
- France
- Volunteers
- 15 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Friedreich Ataxia
Neurology Measures in FA Children
The purpose of this study is to identify ways to follow progression of Friedreich's Ataxia (FA) and be able to measure changes over time in children with FA.
- Trial name
- NCT03418740
- Where
- 3 sites in United States
- Volunteers
- 108 people
- Sponsor
- Children's Hospital of Philadelphia
Peripheral Arterial Disease
Mechanisms That Produce the Leg Dysfunction of Claudication & Treatment Strategies
Intermittent claudication afflicts 5% of the US population older than 55 years of age and develops along with hardening of the arteries of the legs.
- Trial name
- NCT01970332
- Testing
- Revascularization Surgery, Supervised exercise therapy
- Where
- United States
- Volunteers
- 220 people
- Sponsor
- University of Nebraska
PolG, Primary Mitochondrial Myopathy
Mitochondrial Video Assessment Source Material Study
Source material collection of videos to develop the Mitochondrial Video Assessment (MVA) for patients with mitochondrial myopathies.
- Trial name
- NCT06180421
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- The Emmes Company, LLC
Obesity, Insulin Resistance
Mitochondrial Function in Pediatric Obesity
The prevalence of pediatric obesity is increasing at an unprecedented rate. Obese children are at risk for the development of insulin resistance, relative insulin deficiency and type 2 diabetes mellitus.
- Trial name
- NCT00577174
- Where
- United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Thymidine Kinase 2 Deficiency
A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency
This is a multicenter, multinational, retrospective chart-review study to evaluate survival in patients with Thymidine Kinase 2 deficiency (TK2d).
- Trial name
- NCT05017818
- Testing
- Observational retrospective data
- Where
- 12 sites in United States, Russia and 2 more
- Volunteers
- 61 people
- Sponsor
- Zogenix MDS, Inc.
Cardiomyopathies, Amyloidosis Cardiac
Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation
The study aims to identify new diagnostic and prognostic markers for CMP that can help predict disease progression. In particular, the study will focus on microRNAs (miRNAs) and spatial transcriptomics, which are emerging…
- Conditions
- Cardiomyopathies, Amyloidosis Cardiac, Fabry Disease, Arrhythmogenic Cardiomyopathy
- Trial name
- CMPMIRNA (NCT06813443)
- Where
- 3 sites in Italy
- Volunteers
- 700 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Mitochondrial Diseases, Pearson Syndrome
A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome
Mitochondrial diseases are a genetically heterogeneous group of disorders caused by mutations or deletions in mitochondrial DNA (mtDNA) displaying a wide range of severity and phenotypes.
- Trial name
- NCT03384420
- Testing
- CD34+ cells enriched with MNV-BLD
- Where
- Israel
- Volunteers
- 7 people
- Sponsor
- Minovia Therapeutics Ltd.
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Hepatic Steatosis, Bariatric Surgery Candidate
Hepatic Mitochondrial Function in Youth
Assess the impact of bariatric surgery on hepatic energy metabolism and glucose and insulin dynamics in obese youth
- Conditions
- Hepatic Steatosis, Bariatric Surgery Candidate, Adolescent Obesity, Obesity
- Trial name
- MANGO (NCT03587727)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Colorado, Denver
Mitochondrial Myopathy, MELAS Syndrome
Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia
OBJECTIVES: I. Study the metabolism of pyruvate and related problems in patients with lactic acidemia. II. Define the nature of the metabolic defect.
- Conditions
- Mitochondrial Myopathy, MELAS Syndrome, Lactic Acidosis
- Trial name
- NCT00004353
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
Second or Third Degree Burns
Acute and Long-Term Outcome Investigations of Fenofibrate on Severely Burned Patients
The purpose of this study is to learn the following: whether long-term treatment (6 months) with fenofibrate will decrease burn related sugar and fat increased in the blood and help prevent muscle loss and improve wound healing.
- Trial name
- NCT01574131
- Testing
- Fenofibrate, Sugar Pill
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- The University of Texas Medical Branch, Galveston
Autism Spectrum Disorder, Autism
Mitochondrial Dysfunction in Autism Spectrum Disorder
Researchers at Arkansas Children's Hospital Research Institute are conducting a study about mitochondrial function in children. The study involves up to 5 visits to Arkansas Children's Hospital with fasting blood draws…
- Conditions
- Autism Spectrum Disorder, Autism, Mitochondrial Disease, Developmental Delay
- Trial name
- Mito (NCT02000284)
- Where
- United States
- Volunteers
- 297 people, healthy volunteers welcome
- Sponsor
- University of Arkansas
Mitochondrial Disease
Efficacy and Safety of Modafinil to Treat Fatigue in People With Mitochondrial Disease.
Mitochondrial diseases are genetic disorders that affect the body's ability to produce energy. Fatigue is a common symptom that can significantly affect daily activities, physical functioning, and quality of life.
- Trial name
- NCT07887412
- Testing
- Modafinil (M)
- Where
- Canada
- Volunteers
- 15 people
- Sponsor
- Kenneth Myers, MD
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness