Clinical trials: Primary Mitochondrial Diseases
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Mitochondrial Diseases, Mitochondrial Myopathies
Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD).
The goal of this study is to find the best way to help people with primary mitochondrial disease deal with the stress of their condition, and to help these people be better able to "bounce back," or be resilient.
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Encephalomyopathies, MELAS
- Trial name
- NCT06051448
- Testing
- Promoting Resilience in Stress Management (PRISM), Clinical-focused narrative (CFN)
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Children's Hospital of Philadelphia
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD)
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
The KHENERFIN study aims to determine whether the study medicine, sonlicromanol, is able to reduce symptoms of fatigue and the impact of fatigue on daily life, and whether sonlicromanol is able to improve physical abilities of…
- Conditions
- Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
- Trial name
- KH176-301 (NCT06451757)
- Testing
- Sonlicromanol
- Where
- 10 sites in United States, Denmark and 5 more
- Volunteers
- 220 people
- Sponsor
- Khondrion BV
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
Parkinson Disease, Hereditary Spastic Paraparesis
Enhancement of Quality of Work And Life
Work participation is essential for quality of life, providing purpose, social interaction, financial security, and shaping social status.
- Conditions
- Parkinson Disease, Hereditary Spastic Paraparesis, Cerebellar Ataxia, Mitochondrial Diseases
- Trial name
- EQuAL (NCT06573866)
- Testing
- Preventive Participatory workplace intervention
- Where
- Netherlands
- Volunteers
- 124 people
- Sponsor
- Radboud University Medical Center
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
Primary Mitochondrial Myopathy
A Trial to Evaluate Safety and Efficacy of Elamipretide Primary Mitochondrial Myopathy Followed by Open-Label Extension
This is a multicenter phase 3 randomized, double-blind, parallel-group, placebo-controlled trial to evaluate the safety and efficacy of daily subcutaneous injections of elamipretide in subjects with primary mitochondrial…
- Trial name
- MMPOWER-3 (NCT03323749)
- Testing
- elamipretide, elamipretide open label treatment
- Where
- 27 sites in United States, Canada and 5 more
- Volunteers
- 218 people
- Sponsor
- Stealth BioTherapeutics Inc.
Primary Mitochondrial Diseases
Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
Mitochondrial diseases are a genetically diverse group of disorders, some of which are caused by mutations or deletions in the mitochondrial DNA (mtDNA) and which display a wide range of severity and phenotypes.
- Trial name
- NCT06474104
- Where
- Israel
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Minovia Therapeutics Ltd.
Primary Biliary Cholangitis (PBC)
Early Diagnosis of Primary Biliary Cholangitis (PBC) in Patients With Positive Anti-Mitochondrial Antibodies (AMA) and Normal Alkaline Phosphatase (ALP)
The goal of this observational study is to achieve early diagnosis of Primary Biliary Cholangitis (PBC) in patients with positive Anti-Mitochondrial Antibodies (AMA) and Normal Alkaline Phosphatase (ALP) in adults aged 18-80…
- Trial name
- NCT07205874
- Where
- Spain
- Volunteers
- 80 people
- Sponsor
- Hospital Universitario La Paz
Leigh Syndrome
A Study of the Natural Course of SURF1 Deficiency
The purpose of the study is to prospectively and systematically collect standardized clinical information, to describe important features of the disease course of SURF1 deficiency.
- Trial name
- NCT05277363
- Testing
- None (Observational study)
- Where
- United States
- Sponsor
- Taysha Gene Therapies, Inc.
Epithelial Ovarian Cancer, Peritoneal Neoplasms
Birinapant for Advanced Ovarian, Fallopian Tube, and Peritoneal Cancer
Background: Birinapant is an experimental cancer treatment drug. It removes certain proteins in cells, which helps to kill the cells.
- Conditions
- Epithelial Ovarian Cancer, Peritoneal Neoplasms, Fallopian Tube Neoplasms
- Trial name
- NCT01681368
- Testing
- Birinapant (TL32711)
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- National Cancer Institute (NCI)
Primary Progressive Multiple Sclerosis
Clinical Trial of Idebenone in Primary Progressive Multiple Sclerosis (IPPoMS)
Background: Multiple sclerosis (MS) is an inflammatory disorder of the central nervous system that progressively weakens and destroys the pathways of the nervous system.
- Trial name
- IPPoMS (NCT00950248)
- Testing
- Idebenone
- Where
- United States
- Volunteers
- 85 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Thymidine Kinase 2 Deficiency
An Open-Label Study of Continuation Treatment With Combination Pyrimidine Nucleosides in Patients With TK2 Deficiency
This is a Phase 2 prospective open-label treatment study of the safety and efficacy of doxecitine and doxribtimine in study participants with thymidine kinase 2 (TK2) deficiency who participated in the retrospective study…
- Trial name
- Continuation (NCT03845712)
- Testing
- doxecitine and doxribtimine
- Where
- 8 sites in United States, Israel and 1 more
- Volunteers
- 47 people
- Sponsor
- UCB BIOSCIENCES, Inc.
Primary Mitochondrial Disease
An Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)
This is an observational study of patients with Primary Mitochondrial Disease with either signs or symptoms suggestive of myopathy.
- Trial name
- RePOWER (NCT03048617)
- Where
- 33 sites in United States, Australia and 7 more
- Volunteers
- 215 people
- Sponsor
- Stealth BioTherapeutics Inc.
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
Mitochondrial Myopathies, Mitochondrial Diseases
Applying pGz in Mitochondrial Disease
This is a multi-aim study, studying the effects of conventional exercise (measured through Cardiopulomary Exercises Testing or an in-bed pedal exercise) and passive exercise through periodic acceleration (pGz).
- Trial name
- NCT05569122
- Testing
- Cardiopulmonary Exercise Testing, pGz Bed, Gentle Jogger
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Ataxia Telangiectasia
Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With a Novel Form of Anaplerosis
Study design: Parallel group, placebo-controlled, dose-escalation each 2 months for 12 months. Dose based on percent (%) of calculated caloric intake.
- Trial name
- A-TC7 (NCT04513002)
- Testing
- Triheptanoin
- Where
- Australia
- Volunteers
- 30 people
- Sponsor
- The University of Queensland
Brain Neoplasm, Neoplasm Metastasis
Gene Therapy for the Treatment of Brain Tumors
Malignant brain tumors are responsible for a significant amount of deaths in children and adults. Even with advances in surgery, radiation therapy, and chemotherapy, many patients diagnosed with a malignant brain tumor survive…
- Trial name
- NCT00001328
- Testing
- Cytovene (Ganciclovir Sodium), G1TKSVNa.53 Producer Cell Line
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Clinically Isolated Syndrome, Relapsing-Remitting Multiple Sclerosis
Mitochondrial Dysfunction and Disease Progression
While the last several years have seen great strides in the treatment of relapsing forms of MS, progressive MS, responsible for the majority of MS-related disability, lags far behind.
- Conditions
- Clinically Isolated Syndrome, Relapsing-Remitting Multiple Sclerosis, Secondary Progressive Multiple Sclerosis, Primary Progressive Multiple Sclerosis
- Trial name
- NCT02549703
- Where
- United States
- Volunteers
- 47 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Mitochondrial Diseases
Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease
The purpose of this study is to investigate if the study medicine, KL1333, is safe, well-tolerated and effective long-term in improving the symptoms of fatigue and impacts on daily living and functional capacity (physical…
- Trial name
- Falcon-OLE (NCT07514338)
- Testing
- Napazimone
- Where
- 23 sites in United States, Belgium and 7 more
- Volunteers
- 140 people
- Sponsor
- Pharming Technologies B.V.