Clinical trials: Mitochondrial Pathology
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
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
Sepsis, Hyperglycemia
Gluconeogenesis Rates and Its Precursors in Pediatric Sepsis
Critically ill children have abnormal utilization of nutrients such as glucose, lipids and protein. Often sick children have increased glucose concentrations in blood.
- Conditions
- Sepsis, Hyperglycemia, Critical Illness
- Trial name
- NCT01890928
- Where
- United States
- Volunteers
- 19 people, healthy volunteers welcome
- Sponsor
- The Cleveland Clinic
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 Mitochondrial Disease
Natural History Study of Mitochondrial Myopathy
The goal of this observational study is to develop and validate tools to measure disease course in patients with primary mitochondrial myopathy (PMM).
- Trial name
- NCT05250375
- Where
- United States
- Volunteers
- 1,300 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
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
Friedreich Ataxia
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
This project is a global, multicenter, prospective, longitudinal, observational natural history study that can be used to understand the disease progression and support the development of safe and effective drugs and biological…
- Trial name
- UNIFAI (NCT06016946)
- Where
- 34 sites in United States, Australia and 15 more
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Friedreich's Ataxia Research Alliance
Friedreich Ataxia
Digital Outcome Assessment Using AI Active Gaming and Motion Capture in Friedreich Ataxia
Friedreich ataxia (FA) is a rare, inherited condition that progressively affects balance, coordination, and walking. Clinical trials of new FA treatments rely largely on standard clinical rating scales, but these can be tiring…
- Trial name
- STEP-OUT FA (NCT07731971)
- Testing
- Laboratory validation session (VSimulator), Home-based active gaming assessment
- Where
- United Kingdom
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Exeter
Friedreich's Ataxia
Biomarkers in Friedreich's Ataxia
The purpose of this project is to characterize measures of cardiac performance and neuromuscular physiology in FA patients using novel techniques, including echocardiography and magnetic resonance imaging (MRI), metabolic…
- Trial name
- NCT02497534
- Where
- United States
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- University of Florida
Friedreich Ataxia
Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia
Friedreich's ataxia is characterized by progressive alterations in the function of the cerebellum accompanied by an atrophy of the spinal cord.
- Trial name
- NCT01776164
- Where
- United States
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Friedreich Ataxia, Rare Diseases
Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia
Multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia.
- Trial name
- EARLY-FA (NCT06560346)
- Testing
- Geneticlly confirmed disease causing FXN mutatuion, Healthy Control
- Where
- 7 sites in United States, Australia and 3 more
- Volunteers
- healthy volunteers welcome
- Sponsor
- Friedreich's Ataxia Research Alliance
Bronchiolitis Acute, Wheezing
The Role of Vitamin D and Vitamin D Receptor in Recurrent Wheezing in Children With Bronchiolitis: Immunological Association With T-lymphocyte Mitochondrial Mass
A prospective study will be conducted involving children under 2 years of age hospitalized for bronchiolitis during the period 2025-2026.
- Conditions
- Bronchiolitis Acute, Wheezing, RSV
- Trial name
- NCT07700134
- Testing
- No Intervention: Observational Cohort
- Where
- Greece
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- National and Kapodistrian University of Athens
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Obesity, Insulin Resistance
Mitochondrial Function in Pediatric Obesity
The prevalence of pediatric obesity is increasing at an unprecedented rate. Obese children are at risk for the development of insulin resistance, relative insulin deficiency and type 2 diabetes mellitus.
- Trial name
- NCT00577174
- Where
- United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Autism Spectrum Disorder, Autism
Mitochondrial Dysfunction in Autism Spectrum Disorder
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…
- Conditions
- Autism Spectrum Disorder, Autism, Mitochondrial Disease, Developmental Delay
- Trial name
- Mito (NCT02000284)
- Where
- United States
- Volunteers
- 297 people, healthy volunteers welcome
- Sponsor
- University of Arkansas
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness
Intermittent Claudication
The Relationship Between Peripheral Arterial Disease and Mitochondrial Respiratory Capacity
Current evidence cannot explain the clinical features of peripheral arterial disease only from the principle of reduced blood flow.
- Trial name
- NCT02434783
- Where
- Norway
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Norwegian University of Science and Technology
Friedreich's Ataxia
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
Friedreich's ataxia (FRDA) is an autosomal recessive disease characterized by loss of coordination and cardiomyopathy. It is the most common form of inherited ataxia with an incidence in 1/50,000 in the Caucasian population.
- Trial name
- NCT02316314
- Testing
- Cardiac magnetic resonance imaging (CMR), Exercise-stress test, Echocardiogram (ECHO)
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University