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Active clinical trials for "Mitochondrial Diseases"

Results 31-40 of 104

Mitochondrial Dysfunction in Autism Spectrum Disorder

Autism Spectrum DisorderAutism2 more

Researchers at Arkansas Children's Hospital Research Institute are conducting a study about mitochondrial function in children. The study involves up to 5 visits to Arkansas Children's Hospital with fasting blood draws, behavioral assessments, and/or questionnaires. This study is not currently recruiting, but continues to follow those who were enrolled. There is no cost for visits or study-related exams. For further information, please contact the program manager, Leanna Delhey, at ldelhey@uams.edu or 501-364-4519

Enrolling by invitation4 enrollment criteria

Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate...

LeukoencephalopathiesLBSL5 more

In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.

Recruiting3 enrollment criteria

Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity During the COVID19...

Mitochondrial Disease

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. Infection is a major cause of disease and death in people with this disease. Researchers want to learn more about how infection and the declining health of people who have this disease may be related to the COVID-19 pandemic. To do this, researchers will study the DNA of people who become ill with suspected or confirmed coronavirus. Their DNA will be compared to the DNA of their family members. Objective: To learn more about how genes may play a role in how COVID-19 affects people with mitochondrial disease. Eligibility: People age 2 months and older with mitochondrial disease and a suspected or confirmed diagnosis of COVID-19.<TAB> Design: Participants will complete a questionnaire about their health history. Their medical records may be reviewed. They will give a blood sample. If the participant becomes ill, they may have a videoconference with a doctor or nurse at the NIH to perform a physical exam. They may be contacted after their illness to give updates on their health. They may be asked to give extra blood samples or complete extra questionnaires. Participants genetic data will be put into a database. The data will be labeled with a code and not their name. The data will be shared with other researchers. Participation lasts about 1 year. This may be extended if the participant is very ill.

Recruiting28 enrollment criteria

Reference Values of Intraepidermal Nerve Fiber Density in Children and Small Fiber Neuropathy in...

Mitochondrial DiseasesDevelopmental Delay Disorder2 more

Background: Small-Fiber-Neuropathy describes the degeneration of mildly or unmyelinated nerve fibers and causes neuropathic pain and autonomic dysfunction. Gold standard for the diagnosis is a small skin punch biopsy from the lower leg and the histological quantification of the intraepidermal nerve fiber density (IENFD). In children, the normal IENFD has not been systematically assessed and normal reference values are needed. In Parkinson´s disease, the neurodegeneration also affects the peripheral nerves and SFN is present already in the early stages. Whether neurodevelopmental disorders (NDDs) in childhood are likewise associated with SFN is largely unknown. The IENFD is age-dependent and declines with age. Aims: In this study, we are establishing the reference values for the physiological IENFD in children from 0-18 years. Moreover, we are investigating if children with NDDs have a reduced IENFD and if SNF is a clinically relevant cause of pain and autonomic dysfunction.

Recruiting11 enrollment criteria

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

Mitochondrial DisordersMitochondrial Genetic Disorders3 more

The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

Recruiting6 enrollment criteria

Human Mitochondrial Stress-driven Obesity Resistance

Mitochondrial DiseasesMitochondrial Myopathies1 more

The overarching aim of this observational study is to determine alterations in energy balance while exploring the underlying cellular mechanisms in human genetic models of mitochondrial stress. In a case-control design, individuals with pathogenic mitochondrial DNA mutations will be compared to healthy controls matched for sex, age, and physical activity level. Participants will attend a screening visit and an experimental trial including assessments of energy expenditure, appetite sensation, energy intake, and muscle and subcutaneous adipose tissue biopsy samples.

Recruiting11 enrollment criteria

Mitochondrial Myopathy Rating Scale

Primary Mitochondrial Disease

Investigators have assembled an existing infrastructure of physical therapists, clinical coordinators and Bioinformatics; as well as expertise in developing and validating tools to measure disease course in a longitudinal study, to support completion of the proposed studies. Aim 1 serves to validate the Mitochondrial Myopathy Objective Assessment Tool (MM-COAST) and Mitochondrial Myopathy Functional Scale (MMFS) in nucleotide-binding protein-like (NUBPL)-subjects. Aim 2 aims to devise a Primary Mitochondrial Diseases (PMD)-specific cerebellar ataxia outcome measure for future clinical trials. Nucleotide-binding protein-like (NUBPL)-Natural history data will be used to inform future interventional clinical trial design, while the validated MM-COAST, Mitochondrial Myopathy Rating Scale (MMRS) and newly devised PMD-ataxia scale would be utilized as meaningful quantitative outcome measures in future NUBPL-multicenter natural history and clinical trials.

Recruiting7 enrollment criteria

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford...

Rare DisordersUndiagnosed Disorders316 more

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Recruiting2 enrollment criteria

Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity

Mitochondrial Diseases

The purpose of this study is to test how different doses of a statin, Lipitor, affect muscle health and function, and cardiovascular fitness.

Active16 enrollment criteria

Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide...

Primary Mitochondrial Disease

This is a Phase 2 Open-Label extension study to evaluate the long term safety and tolerability of daily elamipretide injections in patients with genetically confirmed Primary Mitochondrial Disease who previously participated in the SPIMM-202 Clinical Trial

Terminated7 enrollment criteria
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