Clinical trials: Mitochondrial Disorder
Ataxia, Cerebellar, Cerebellar Ataxia
Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia
Neurodegenerative cerebellar ataxias represent a group of disabling disorders for which we currently lack effective therapies. Cerebellar transcranial direct current stimulation (tDCS) is a non-invasive technique, which has been…
- Conditions
- Ataxia, Cerebellar, Cerebellar Ataxia, Spinocerebellar Ataxias, Ataxia, Spinocerebellar
- Trial name
- CStDCSAtaxia (NCT03120013)
- Testing
- Anodal cerebellar and cathodal spinal tDCS
- Where
- Italy
- Volunteers
- 21 people
- Sponsor
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
Alzheimer Disease, Dementia
N-DOSE AD: A Dose Optimization Trial of Nicotinamide Riboside in Alzheimer's Disease
The goal of this double-blinded placebo-controlled randomized trial is to determine the optimal dose of nicotinamide riboside (NR), in individuals with Alzheimer's disease (AD).
- Trial name
- NCT05617508
- Testing
- Nicotinamide Riboside supplementation 1000mg daily in total, Nicotinamide Riboside dose escalation (up to 3000 mg daily in total)
- Where
- 2 sites in Norway
- Volunteers
- 80 people
- Sponsor
- Haukeland University Hospital
Diabetes Mellitus, Type 2, Cardiomyopathy, Dilated
Cross-over Study on Effect of Lipid Lowering by Acipimox on Cardiac and Skeletal Muscle Mitochondrial Function
Accumulation of lipid in skeletal and cardiac muscle has been associated with insulin resistance and diabetic cardiomyopathy. In skeletal muscle, lipotoxic damage has been suggested to lead to dysfunction of mitochondria.
- Trial name
- ACP (NCT00943059)
- Testing
- Acipimox, Cellulosum Mycrocryst
- Where
- Netherlands
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
Friedreich Ataxia
Efficacy of Stabilometric Platform to Improve Standing Balance in Patients With Friedreich's Ataxia
The primary objective is to evaluate the potential effectiveness of an individualized intensive rehabilitation intervention using the "Prokin 252" stabilometric platform in the treatment of adolescent and adult patients with…
- Trial name
- NCT06692296
- Testing
- Balance training over stabilometric platform, Balance training by means of conventional rehabilitation
- Where
- Italy
- Volunteers
- 24 people
- Sponsor
- IRCCS Eugenio Medea
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
OPA1 Gene Mutation, Autosomal Dominant Optic Atrophy
SAD of IVT PYC-001 in OPA1 Mutation-Associated Autosomal Dominant Optic Atrophy (Sundew)
A First-in-Human multi-centre, prospective, Phase1a, Single Ascending Dose (SAD) interventional study of PYC-001 in participants with confirmed OPA1 mutation (haploinsufficiency) associated ADOA.
- Conditions
- OPA1 Gene Mutation, Autosomal Dominant Optic Atrophy, Hereditary Optic Atrophies, Kjer Optic Atrophy
- Trial name
- NCT06461286
- Testing
- PYC-001
- Where
- 2 sites in Australia
- Volunteers
- 18 people
- Sponsor
- PYC Therapeutics
Mitochondrial Disorders
DINAMITE Study Nutritional State and Effect Diet in Mitochondrial Disease
The m.3243A>G mutation is the most frequent cause of mitochondrial disease in adults, for which currently no therapy is available and treatment is solely supportive.
- Trial name
- DINAMITE (NCT02286856)
- Testing
- diet intervention
- Volunteers
- 40 people
- Sponsor
- Radboud University Medical Center
Friedreich's Ataxia
A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
Friedreich's ataxia (FA) is an autosomal recessive disease with an incidence of 1/50,000 in the Caucasian population. The main manifestations of FA are progressive sensory and cerebellar ataxia and cardiomyopathy (CM).
- Trial name
- NCT02840669
- Testing
- Cardiac magnetic resonance imaging (CMR), Exercise-stress test, Echocardiography (ECHO)
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Adverum Biotechnologies, Inc.
Delayed Graft Function, Kidney Transplant; Complications
Intermittent Versus Continuous Surface O2 During HMP of DCD Kidneys
The aim of the study is to evaluate the feasibility of this bubble and surface oxygenation and to determine the optimal timing of surface oxygenation (continuous versus intermittent) as alternative for membrane-oxygenated…
- Conditions
- Delayed Graft Function, Kidney Transplant; Complications, Ischemia Reperfusion Injury, Mitochondrial
- Trial name
- HMPO2 (NCT05430620)
- Testing
- Oxygen
- Where
- Belgium
- Volunteers
- 60 people
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Hypoxia, Altitude
The Impact of Physical Training Under Normobaric Hypoxia on Oxidative Stress Level, Inflammatory State, Intestinal Damage, and Mitochondrial Metabolism in Young Males
Cognitive assessment of the influence of a 4-week proprietary training program under normobaric hypoxia conditions on the levels of inflammatory markers, disturbances in prooxidant-antioxidant balance, degree of intestinal…
- Trial name
- NCT06204731
- Testing
- Exercise and environmental conditions
- Where
- Poland
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University School of Physical Education, Krakow, Poland
Friedreich Ataxia
Open Trail of γIFN for Friedreich Ataxia
The investigator proposes an open label pilot study to investigate the safety and efficacy of gamma interferon (γIFN) in patients with Friedreich's Ataxia (FRDA).
- Trial name
- NCT03888664
- Testing
- gamma interferon
- Volunteers
- 12 people
- Sponsor
- IRCCS Eugenio Medea
Healthy
Effects of an Antioxidant Supplement on Blood Vessel Health
Cardiovascular disease (CVD) is a leading cause of morbidity and mortality worldwide, and the non-Hispanic Black (NHB) population is disproportionately affected.
- Trial name
- NCT06424756
- Testing
- MitoQ, MitoTempo, Tempol
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Georgia
Mitochondrial Disease
Calf Muscle Strength in Mitochondrial Diseases
Mitochondrial disorders are a group of inherited disorders causing malfunctional mitochondria. Mitochondria are found in every cell of the body, and the disorders therefore give symptoms from every tissue, especially those with…
- Trial name
- CMSMD (NCT02678637)
- Testing
- MRI and muscle dynamometer
- Where
- Denmark
- Volunteers
- 37 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Friedreich Ataxia
Transitional Life Events in Patients With Friedreich's Ataxia: Implications for Genetic Counseling
The purposes of this study are to learn about significant life changes for people with Friedreich's ataxia and about patients' experiences with health care providers.
- Trial name
- NCT00056186
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With Nicotinamide Riboside
Study design: Single arm open-label clinical trial in ataxia-telangiectasia to test the effects of nicotinamide riboside on ataxia scales, immune function, and neurofilament light chain.
- Trial name
- ATNAD (NCT06324877)
- Testing
- Nicotinamide riboside
- Where
- Australia
- Volunteers
- 10 people
- Sponsor
- The University of Queensland
Obesity, Insulin Sensitivity, Type 2 Diabetes Mellitus
Dietary Polyphenols and Lipid Oxidation
There are strong indications that (combinations of) polyphenols may be attractive candidates in the prevention of the metabolic syndrome and diabetes through modulation of pathways of fatty acid metabolism and mitochondrial…
- Trial name
- NCT01302639
- Testing
- Comparison of different combinations of polyphenols with respect to effects on fat oxidation
- Where
- Netherlands
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
Bladder Cancer
Expression of Markers Related to Mitochondrial Functionality in Carcinoma of the Urinary Bladder: Comparative Retrospective Analysis Between Recurrent Tumors ("Non-responders") and Non-recurrent Tumors ("Responders") After Intravesical Treatment With Chemotherapy or Immunotherapy
Retrospective monocentric study evaluating different immunohistochemical phenotypes related to mitochondrial functions with treatment outcomes
- Trial name
- MITOMARKER-MIM (NCT04256122)
- Testing
- No intervantion on patients. retrospective study is performed on paraffin embedded tumor tissue specimens routinely collected during TURBT.
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Clinico Humanitas
Mitochondrial Disorders, Mitochondrial Disease
Tissue Sample Study for Mitochondrial Disorders
The investigators are studying patients with undefined mitochondrial diseases to identify genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA).
- Conditions
- Mitochondrial Disorders, Mitochondrial Disease, Melas, Kearns Sayer
- Trial name
- NCT01803906
- Where
- United States
- Volunteers
- 6,900 people, healthy volunteers welcome
- Sponsor
- Columbia University
Mitochondrial Diseases
Diagnostic Odyssey Survey 2
A previous NAMDC survey study (NAMDC 7414 - Diagnostic Odyssey Survey, referred to hereafter as Odyssey1), provided a benchmark account of the substantial challenges faced by patients in achieving a diagnosis of mitochondrial…
- Trial name
- NCT03678740
- Testing
- Odyssey 2 Survey
- Where
- United States
- Volunteers
- 336 people
- Sponsor
- University of South Florida
Non-alcoholic Fatty Liver Disease NAFLD
Hepatic Mitochondrial Metabolism in Fatty Liver Disease in Humans
The goal of this clinical trial is to investigate in healthy volunteers the mechanisms by which ethanol and lipids, the two key risk factors of steatotic liver disease (SLD), affect liver mitochondrial metabolism.
- Trial name
- ALPHA (NCT06559878)
- Testing
- 13C-α-Ketoisocaproic Acid Breath Test, Ethanol, Lipid Emulsion
- Where
- Finland
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Helsinki University Central Hospital