Clinical trials: Mitochondrial Disorder
Mitochondrial Diseases
Combating the Diagnostic Impasse in Mitochondrial Diseases: a Transcriptomic Approach in Fibroblasts and Blood Cells
Next-generation sequencing (NGS), and in particular whole exome sequencing (WES) or genome sequencing (WGS), has enabled a significant technical advance that has considerably improved genetic diagnostics.
- Trial name
- RNAseq (NCT06621732)
- Testing
- cutanous biopsy and blood sample
- Where
- 2 sites in France
- Volunteers
- 10 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
MELAS, LHON
A Dose-escalating Clinical Trial With KH176
Mitochondrial Diseases are rare progressive, multi-system, often early fatal disorders affecting both children and adults. KH176 is a novel chemical entity currently under development for the treatment of inherited mitochondrial…
- Conditions
- MELAS, LHON, Leigh Syndrome, Mitochondrial Disease
- Trial name
- NCT02544217
- Testing
- KH176
- Where
- Belgium
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Khondrion BV
Septic Shock, Multiple Organ Failure
Impact of Metabolite Supplementation to Restore Mitochondrial Dysfunction During Septic Shock: a Preclinical Study
Septic shock is defined as a subset of sepsis with severe metabolism alterations, leading to organ failure. Septic shock is associated with a high mortality, around 40% according to the SEPSIS 3 definition.
- Trial name
- MEFDASE (NCT04288635)
- Testing
- Whole blood samples
- Where
- France
- Volunteers
- 55 people
- Sponsor
- University Hospital, Angers
Muscular Dystrophies, Congenital Myopathy
Assessment of Safety and Acute Effects of a Lower-limb Powered Dermoskeleton in Patients With Neuromuscular Disorders
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a programmable ambulation exoskeleton (KeeogoTM Dermoskeleton System, B-Temia Inc., Quebec, Canada) in patients with…
- Conditions
- Muscular Dystrophies, Congenital Myopathy, Idiopathic Inflammatory Myopathies, Mitochondrial Myopathies
- Trial name
- Exo-KGO1 (NCT05199246)
- Testing
- Lower-limb powered dermoskeleton
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
Cockayne Syndrome
Metabolic Study of Cockayne Syndrome
Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair.
- Trial name
- METABO-CS (NCT03044210)
- Testing
- Metabolic evaluation
- Where
- France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Glaucoma
Nicotinamide Levels in Serum, Aqueous Humor, and Tear Film in Glaucoma and Correlations With Mitochondrial Damage-Associated Molecular Patterns (mtDAMPs) and Senescence-Associated Secretory Phenotype (SASP)
Background Glaucoma is a multifactorial, chronic, and progressive eye disease characterized by the irreversible loss of retinal ganglion cells (RGCs).
- Trial name
- NCT07006194
- Testing
- Nicotinamide Tablet
- Where
- 3 sites in Italy
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- Università degli Studi 'G. d'Annunzio' Chieti e Pescara
Mitochondrial Neurogastrointestinal Encephalopathy Disease
Evolution of Nutritional Status and Intestinal Function in Patients With MNGIE
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare disease characterized by severe gastrointestinal and neurological dysfunction.
- Trial name
- SN-FI_MNGIE (NCT06784453)
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
HIV
Effect of Gender and HIV Infection on Zidovudine and Lamivudine Pharmacokinetics
This study evaluated the blood and blood cell concentrations of zidovudine and lamivudine in men versus women and in those with versus without HIV infection.
- Trial name
- NCT01386970
- Testing
- zidovudine 300mg and lamivudine 150mg as Combivir
- Where
- United States
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Insulin Sensitivity, Multiple Mitochondrial Dysfunctions Syndrome
Study of Dapagliflozin on Mitochondrial Dysfunction and Impaired Insulin Signaling/Action
The purpose of this study is to examine the effect of the chronic treatment of type 2 diabetes (T2DM) with dapagliflozin on: (1) mitochondrial gene function/expression and insulin signaling/action and (2) oral glucose tolerance…
- Trial name
- DAPA MITO (NCT01439854)
- Testing
- Dapagliflozin
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- The University of Texas Health Science Center at San Antonio
Cytomegalovirus Retinitis, HIV Infections
A Study of Foscarnet in the Treatment of Cytomegalovirus (CMV) of the Eyes in Patients With AIDS Who Have Not Had Success With Ganciclovir
To evaluate the safety and efficacy of foscarnet induction treatment of cytomegalovirus (CMV) retinitis in AIDS patients who have previously suffered severe dose-limiting ganciclovir-related myelosuppression, who are ineligible…
- Trial name
- NCT00002301
- Testing
- Foscarnet sodium
- Where
- United States
- Sponsor
- Astra USA
Type 2 Diabetes Mellitus (T2DM), Insulin Resistance
Validation of the Snouda Metabolic Score for Phenotyping and Guiding Reversal in Type 2 Diabetes
This study tests a new tool called the Snouda Metabolic Score (SMS) that helps doctors identify the specific metabolic problems driving Type 2 Diabetes in each individual patient.
- Conditions
- Type 2 Diabetes Mellitus (T2DM), Insulin Resistance, Metabolic Syndrome
- Trial name
- SMS-VAL (NCT07606872)
- Testing
- Phenotype-Matched Dietary Protocol, Structured Progressive Exercise Protocol, Targeted Nutritional Supplementation
- Where
- United Kingdom
- Volunteers
- 150 people
- Sponsor
- Salah Snouda
Hemodialysis-Induced Symptom, Mitochondrial Diseases
Mitochondria and Chronic Kidney Disease
The overarching goal of this study is to determine the role of chronic kidney disease and the activation of the kallikrein-kinin system during hemodialysis on the development of mitochondrial dysfunction; the investigators will…
- Trial name
- MitoCKD (NCT03177798)
- Testing
- Icatibant
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Vanderbilt University Medical Center
Mitochondrial Diseases
CrCest Study in Primary Mitochondrial Disease
The purpose of this study is to perform a "muscle phenotyping" magnetic resonance imaging (MRI) assessment in patients receiving clinical care at the Children's Hospital of Philadelphia (CHOP) for mitochondrial disease that is…
- Trial name
- NCT04734626
- Testing
- Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging Sequence
- Where
- United States
- Volunteers
- 230 people
- Sponsor
- Children's Hospital of Philadelphia
Metabolic Disease, Fabry Disease
Getting Global Rare Disease Insights Through Technology Study
This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders.
- Conditions
- Metabolic Disease, Fabry Disease, Gaucher Disease, Pompe Disease
- Trial name
- GRIT (NCT04758130)
- Testing
- Zamplo Digital Health Platform
- Where
- Canada
- Volunteers
- 150 people
- Sponsor
- M.A.G.I.C. Clinic LTD
Diabetes Mellitus
Study of Cellular Impairments Involved in Diabetic Complications
The purpose of this study is to examine if an early detectable dysfunction in a cellular component (mitochondria) may predict complications in diabetes mellitus.
- Trial name
- diabmito I (NCT00985101)
- Volunteers
- 80 people
- Sponsor
- Naestved Hospital
Cytomegalovirus Retinitis, HIV Infections
A Study of the Safety and Tolerance of Long-Term Therapy With Intravenous Cytovene (Ganciclovir Sodium) for Cytomegalovirus Retinitis in Persons With AIDS
To evaluate the safety and tolerance of long-term ganciclovir (DHPG) therapy for newly diagnosed macular threatening Cytomegalovirus (CMV) retinitis in AIDS patients.
- Trial name
- NCT00002034
- Testing
- Zidovudine, Ganciclovir
- Where
- 9 sites in United States, Canada
- Volunteers
- 100 people
- Sponsor
- Hoffmann-La Roche
Friedreich Ataxia
A Study to Find Out How BIIB141 (Omaveloxolone) is Processed in the Body and to Learn More About Its Safety in Participants With Friedreich's Ataxia Aged 2 to 15 Years Old
In this study, researchers will learn more about BIIB141, also known as omaveloxolone or SKYCLARYS®. This drug has been approved, or made available for doctors to prescribe, for people with Friedrich's Ataxia (FA) who are at…
- Trial name
- BOLD (NCT06054893)
- Testing
- Omaveloxolone
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Biogen
Cerebellar Ataxia
Efficacy of Riluzole in Hereditary Cerebellar Ataxia
The hereditary cerebellar ataxias include diverse neurodegenerative disorders. Hereditary ataxias can be divided into autosomal dominant ataxias (ADCAs), autosomal recessive ataxias (ARCAs), X-linked, and mitochondrial ataxias on…
- Trial name
- NCT01104649
- Testing
- riluzole
- Where
- Italy
- Volunteers
- 60 people
- Sponsor
- S. Andrea Hospital
Iron Deficiency
Effects of Iron Supplementation on Skeletal Muscle Properties in Females With Suboptimal Iron Storage
The goal of this clinical trial is to learn whether oral iron supplementation will increase skeletal muscle iron storage and its effects on exercise capacity in females with suboptimal iron status.
- Trial name
- MyoIRON (NCT07084298)
- Testing
- Oral iron supplement
- Where
- Canada
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University of Calgary
Metabolic Dysfunction Associated Fatty Liver Disease
Effect of High Protein Diet on Hepatic Steatosis in Patients With MAFLD
MAFLD is a growing problem in India. Its pathophysiology is complex, but focused on abnormal substrate handling due to mitochondrial dysfunction reflecting as metabolic inflexibility. Nutrition is the cornerstone of management.
- Trial name
- NCT06749704
- Testing
- High protein diet, Normal Protein diet
- Where
- India
- Volunteers
- 140 people
- Sponsor
- Institute of Liver and Biliary Sciences, India