Clinical trials: Mitochondrial Metabolism Disorders, active
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Neuro-Ophthalmology, Optic Neuropathies
Optic Nerve Head Evaluation Through Multimodal Blood Flow Analysis: a Prospective Observational, Multi-center Study
OCT-A and eco-colordoppler are technologies which enable optic nerve head (ONH) blood perfusion detection. The aim of the study is to assess ONH vascular and structural components in optic neuropathies with and without ONH edema…
- Conditions
- Neuro-Ophthalmology, Optic Neuropathies, Optic Atrophy, Hereditary, Leber, Optic Neuropathy, Anterior Ischemic
- Trial name
- FlowONH (NCT07075887)
- Volunteers
- 70 people
- Sponsor
- Barboni
Frailty, Aging
MItochondrial Intervention for Resilience in Older Adults With Coenzyme Q10
This randomized, double-blind, placebo-controlled clinical trial will investigate whether 10 weeks of CoQ10 supplementation can improve biological resilience and functional health in community-dwelling adults aged 65 years or…
- Conditions
- Frailty, Aging, Mitochondria Health, Skin Aging
- Trial name
- MIRO-Q (NCT07772336)
- Testing
- Q10Vital® (CoQ10, ubiquinone)
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Medical Centre Ljubljana
Retinal Disease, Age-Related Macular Degeneration
Stem Cell Ophthalmology Treatment Study II
This study will evaluate the use of autologous bone marrow derived stem cells (BMSC) for the treatment of retinal and optic nerve damage or disease.
- Conditions
- Retinal Disease, Age-Related Macular Degeneration, Retinitis Pigmentosa, Stargardt Disease
- Trial name
- SCOTS2 (NCT03011541)
- Testing
- Arm 1
- Where
- 4 sites in United States, Austria and 1 more
- Volunteers
- 500 people
- Sponsor
- MD Stem Cells
Intermediate AMD
A Clinical Trial Evaluating the Safety and Efficacy of a New Light Combination Therapy Addressing Intermediate AMD
The proposed clinical investigation wants primary to validate the safety of the innovative light therapy approach and in second priority provide insight and confirmations on therapeutic effect.
- Trial name
- retinaSEES-PoC (NCT06557369)
- Testing
- reSEES
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- Oculox Technologies SA
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic…
- Trial name
- NCT06792500
- Testing
- Glycerol Tributyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- George Washington University
MItochondrial Myopathies, Mitochondrial Disease
Validation of Nanosensor Oxygen Measurement
Past mitochondrial disease treatment studies have been unsuccessful in determining treatment efficacy, and a major factor has been the lack of validated biomarkers in mitochondrial myopathy (MM).
- Trial name
- NCT06819683
- Testing
- Nanosensor
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Autism Spectrum Disorder, Mitochondrial Pathology
Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders
The study involves up to 5 visits for a fasting blood draw, behavioral assessments, and/or questionnaires. Other samples may be collected when appropriate. This study is currently recruiting.
- Conditions
- Autism Spectrum Disorder, Mitochondrial Pathology, Epilepsy, Brain Tumor
- Trial name
- NCT04322734
- Where
- 2 sites in United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Southwest Autism Research & Resource Center
Leber Hereditary Optic Neuropathy (LHON), Leber's Hereditary Optic Neuropathy (LHON)
Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber's Hereditary Optic Neuropathy
Leber Hereditary Optic Neuropathy (LHON) is a rare genetic disease that causes sudden and severe vision loss, usually in young adults.
- Conditions
- Leber Hereditary Optic Neuropathy (LHON), Leber's Hereditary Optic Neuropathy (LHON), Mitochondrial Disease, Optic Nerve Disease
- Trial name
- NICOLHON (NCT07258667)
- Testing
- Nicotinamide treatment
- Where
- France
- Volunteers
- 13 people
- Sponsor
- University Hospital, Angers
Leigh Syndrome
Sirolimus for Leigh Syndrome
The purpose of this study is to evaluate the safety and efficacy of the drug Sirolimus in participants with Leigh syndrome.
- Trial name
- NCT06843811
- Testing
- Sirolimus
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Matthew Demczko
Leber Congenital Amaurosis 10, Blindness
Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
The purpose of this double-masked, randomized, placebo-controlled, paired-eye study is to evaluate the efficacy, safety and tolerability of Sepofarsen in subjects with Leber Congenital Amaurosis (LCA) due to the c.2991+1655A>G…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Sensation Disorders
- Trial name
- HYPERION (NCT06891443)
- Testing
- sepofarsen
- Where
- 18 sites in United States, Australia and 8 more
- Volunteers
- 32 people
- Sponsor
- Laboratoires Thea
Critical Illness
Mitochondrial Assessment in Critical Ill Patients in Intensive Care
Critically ill patients often require admission to the intensive care unit (ICU). When patients develop organ failures and end up on a ventilator, there are changes in the body's cell function that can increase the risk of poor…
- Trial name
- MitoICU (NCT07018843)
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- University Hospital Southampton NHS Foundation Trust
Urea Cycle Disorder, Organic Acidemia
Systemic Biomarkers of Brain Injury From Hyperammonemia
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and…
- Conditions
- Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I
- Trial name
- NCT04602325
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's National Research Institute
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 Myopathies
Role of AMPKalpha2 in Myonuclear Accretion in Mitochondrial Myopathies
Mitochondrial cytopathies are a heterogeneous group of rare inherited diseases characterized by primary mitochondrial dysfunction caused by a pathogenic mutation located either in nuclear DNA or mitochondrial DNA.
- Trial name
- MITOMYO (NCT07920562)
- Testing
- Analysis of signaling pathway : AMPK
- Where
- France
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Type 1 Diabetes (T1D), Metabolic Diseases
METabolic MODulation to Enhance Insulin Sensitivity and Mitochondrial Function in Type 1 Diabetes (MetMod-T1D)
The study is a randomized, double-blind, parallel-group clinical trial to examine the effects of 24 weeks of oral AMX0035 (sodium phenylbutyrate + taurursodiol) versus placebo in 60 adults with Type 1 Diabetes (T1D) (n=30 per…
- Conditions
- Type 1 Diabetes (T1D), Metabolic Diseases, Glucose Metabolism Disorders, Endocrine System Diseases
- Trial name
- MetMod-T1D (NCT07699380)
- Testing
- AMX0035
- Where
- 2 sites in United States, Netherlands
- Volunteers
- 60 people
- Sponsor
- University of Washington
Friedreich Ataxia
Patient-reported, Health Economic and Psychosocial Outcomes in Friedreich Ataxia
The PROFA study is an international, multi-centric observational and validation study to assess the patient-reported, psychosocial and economic outcomes of patients with Friedreich Ataxia (FA).
- Trial name
- PROFA (NCT05943002)
- Where
- 6 sites in Austria, France and 1 more
- Volunteers
- 200 people
- Sponsor
- German Center for Neurodegenerative Diseases (DZNE)
OPA1 Gene Mutation, Optic Atrophy, Autosomal Dominant
A Longitudinal Natural History Study of OPA1-Associated Autosomal-Dominant Optic Atrophy
This prospective, monocenter, non-interventional observational study investigates the natural history as well as the clinical and genetic spectrum of OPA1-associated autosomal dominant optic atrophy.
- Trial name
- OPA-LONG (NCT07729982)
- Where
- Germany
- Volunteers
- 50 people
- Sponsor
- Ludwig-Maximilians - University of Munich
Type 2 Diabetes
Dynamic in Vivo PET Imaging and ex Vivo Biopsies From Skeletal Muscle and Adipose Tissue to Investigate the Effects of Exercise on Insulin Resistance and Mitochondrial Energetics in Type 2 Diabetes
The overall aim of this pilot study is to investigate the effects of exercise training on skeletal muscle and adipose tissue insulin resistance in subjects with Type 2 Diabetes (T2D).
- Trial name
- EXPET (NCT04754581)
- Testing
- Maximal ATP Production (ATPmax), Exercise Testing (VO2max), Muscle Biopsy
- Where
- United States
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- AdventHealth Translational Research Institute