Clinical trials: Mitochondrial Disorders
Mitochondrial Diseases, Bone Remodeling Disorder
The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling
Cell and mice studies suggest mitochondrial dysfunction may cause altered bone structure. Hypothesis: Decreased mitochondrial energy production affects bone cell development and activity negatively.
- Trial name
- NCT05483738
- Testing
- Clinical assessment, blood samples, bone marrow and bone biopsy
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Aalborg University Hospital
Vitamin D Deficiency
Follicular Fluid, Bioavailable Vitamin D and Embryo Quality Markers
To determine the correlation between bioavailable Vitamin D values and euploid status of the embryos in larger size follicles from UAE women undergoing in vitro fertilization procedures.
- Trial name
- NCT03073720
- Where
- United Arab Emirates
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- ART Fertility Clinics LLC
Sarcopenic Obesity, Frailty
Multicomponent Analysis of phYsical Frailty BiomarkErs: Focus on Mitochondrial Health - MAYBE
The study will be conducted in a group of obese sarcopenic patients (Sarco-Ob) aged > 60 years on moderately hypocaloric diet therapy aimed at comparing the effect of a strength exercise protocol, combined or not with dietary…
- Conditions
- Sarcopenic Obesity, Frailty, Malnutrition; Protein
- Trial name
- MAYBE (NCT05938205)
- Testing
- AA-1, AA-2, Exe-H
- Where
- Italy
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Azienda Ospedaliera Universitaria Integrata Verona
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
Mitochondrial Dysfunction, COVID-19
In Vivo Investigation on Mitochondrial Dysfunction in Post-COVID Fatigue and Cancer Fatigue.
To date, little is understood regarding post-COVID fatigue or cancer fatigue though it is known to affect a large proportion of patients (10-70% depending on the population).
- Conditions
- Mitochondrial Dysfunction, COVID-19, Fatigue
- Trial name
- NCT05753228
- Testing
- MRI/ 3D Arterial Spin Labelling (ASL) and 1H magnetic resonance spectroscopy (MRS), Chalder Fatigue Scale, Health Questionnaire (EQ-5D-5L)
- Where
- Singapore
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- National University Hospital, Singapore
Bipolar 1 Disorder, Control Subjects
Socio-cognitive and Biological Responses to Maltreatment
The study will investigate how a history of emotional childhood maltreatment (CM) is associated with different aspects of psychological (social behaviour, empathy) and biological (brain function and structure, inflammation)…
- Trial name
- NCT07101107
- Where
- Austria
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Medical University Innsbruck
Mitochondrial Diseases, Obesity
Muscle OXPHOS and Nutrient Homeostasis
Investigators are recruiting adults (men and women, ages 18 to 65 years, inclusive) with a confirmed genetic diagnosis of mitochondrial disease.
- Trial name
- NCT02920671
- Testing
- Tracer-enhanced oral glucose tolerance test (OGTT*), Muscle MRI, Dual energy x-ray absorptiometry (DXA)
- Where
- 2 sites in United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Hereditary Transthyretin Amyloidosis
Exploring Biomarkers in Hereditary Transthyretin Amyloidosis
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous systemic condition due to mutations in the transthyretin (TTR) gene.
- Trial name
- ELBA (NCT05929209)
- Testing
- Assessment of disease biomarkers
- Where
- Italy
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Mitochondrial Disease
Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity
Background: Mitochondrial disease is a rare disorder. It can cause poor growth, developmental delays, muscle weakness, and other symptoms. The disease is usually inherited. It can be present at birth or develop later in life.
- Trial name
- NCT04419870
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Periodontal Disease, Periodontal Bone Loss
Osteoclast Impairment in Chronic Periodontitis by Regenerative Materials.
The present study is an effort to investigate the hypothesis that Platelet Rich Fibrin/Biphasic Calcium Phosphate may play a role in inhibiting osteoclasts differentiation and in bone loss.
- Conditions
- Periodontal Disease, Periodontal Bone Loss, Osteoclastic Bone Loss
- Trial name
- NCT03227367
- Testing
- other : PRF
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Meenakshi Ammal Dental College and Hospital
Type 1 Diabetes
Effects of Acipimox on Insulin Action, Vascular Function, and Muscle Function in Type 1 Diabetes
Insulin resistance (IR) is an important contributor to increased cardiovascular disease risk in type 1 diabetes (T1D). Non-esterified fatty acid elevation is a significant contributor to IR in T1D and may be a target of…
- Trial name
- AcT1 (NCT01816165)
- Testing
- Acipimox
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Aneuploidy, Pregnancy
The Effect of Co Enzyme Q10 Together With Fertility Drugs on Pregnancy Outcome of in Vitro Fertilization
The goal of our research is to increase live birth rates in infertile women and to reduce the incidence of aneuploidy leading to miscarriage and trisomies.
- Conditions
- Aneuploidy, Pregnancy, Miscarriage
- Trial name
- CoQ10-IVF (NCT01048385)
- Testing
- Coenzyme Q10 concomitant treatment
- Where
- Canada
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- University of Toronto
Sarcopenia
Skeletal Muscle Inflammation, Oxidative Stress and DNA Repair in Age-Related Sarcopenia
The purpose of this research study is to investigate how and why the loss of muscle mass occurs with aging. Tissue collected from young subjects will be compared to previously collected tissue from elderly subjects, as well as…
- Trial name
- NCT02116166
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Florida
Mitochondrial Disorders
Mitochondrial Disease-associated ImmunoDeficiencies
The study aims at characterizing the immune dysfunctions in patients with mitochondrial diseases. This has prognostic and diagnostic interest as well as potential for the discovery of new therapeutic strategies to alleviate…
- Trial name
- MitoID (NCT06213103)
- Testing
- Patient cohort, Control cohort
- Where
- 2 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Optic Neuropathy
Biomechanics of Optic Neuropathy
The participant is being asked to be a subject in this research study because the participant may have a disorder that can cause optic nerve damage and impairment of his/her visual function which is called optic neuropathies…
- Trial name
- NCT02982499
- Testing
- magnetic resonance image (MRI), Optical Coherence Tomography (OCT)
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Miami
Schizophrenia and Other Psychotic Disorders, Healthy Adult
Dysfunction of Respiratory Enzymes in Adults With Mental Illness (DREAM)
This study tested whether intravenous methylene blue changes brain activity during a working-memory task differently in adults with schizophrenia taking stable antipsychotic medication and healthy volunteers.
- Trial name
- DREAM (NCT07866833)
- Testing
- Methylene Blue
- Where
- United Kingdom
- Volunteers
- 53 people, healthy volunteers welcome
- Sponsor
- King's College London
Chronic Progressive External Ophthalmoplegia
MRI Study - Chronic Progressive External Ophthalmoplegia
The purpose of this study is to investigate the fraction of fat on a MRI scan of lower bag muscles, thighs and calves in patients with the mitochondrial disease chronic progressive external ophthalmoplegia (CPEO).
- Trial name
- CPEO (NCT02161848)
- Testing
- Magnetic Resonance Imaging
- Where
- Denmark
- Volunteers
- 133 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Polycystic Ovary Syndrome
Involvement of Reticulum Endoplasmic Stress in the Physiopathology of Polycystic Ovary Syndrome
The main objective of the present project is to evaluate the relevance of reticulum stress in the pathogenesis of polycystic ovary syndrome (PCOS), focusing particularly on the underlying mechanisms of insulin resistance, which…
- Trial name
- PI12/1984 (NCT02302326)
- Testing
- Metformin, Myo-inositol + folic acid
- Where
- Spain
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana
Cachexia, Neoplasms
Cancer-associated Muscle Mass - Molecular Factors and Exercise Mechanisms
Muscle mass loss is a common adverse effect of cancer. Muscle mass loss occurs with or without reduction in body weight. Cancer cachexia (CC) is the involuntary loss of body weight of >5% within 6 months and it occurs in 50-80%…
- Conditions
- Cachexia, Neoplasms, Exercise, Metabolism
- Trial name
- PANACEA (NCT05307367)
- Testing
- Exercise training
- Where
- Denmark
- Volunteers
- 144 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Mitochondrial Diseases, Developmental Delay Disorder
Reference Values of Intraepidermal Nerve Fiber Density in Children and Small Fiber Neuropathy in Neurodevelopmental Disorders
Background: Small-Fiber-Neuropathy describes the degeneration of mildly or unmyelinated nerve fibers and causes neuropathic pain and autonomic dysfunction.
- Conditions
- Mitochondrial Diseases, Developmental Delay Disorder, Small Fiber Neuropathy, Cerebral Palsy
- Trial name
- SFN_children (NCT05645874)
- Testing
- Skin biopsy
- Where
- Germany
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- Heinrich-Heine University, Duesseldorf