Clinical trials: Mitochondrial Encephalopathy
Encephalopathy, HIV Infections
A Phase I/II Pilot Treatment Study Of CSF Penetration And Response To Ganciclovir And Foscarnet In CMV Neurologic Disease.
To determine the safety and CSF penetration of combined ganciclovir and foscarnet treatment for presumed cytomegalovirus encephalitis or radiculomyelopathy.
- Conditions
- Encephalopathy, HIV Infections, Radiculitis
- Trial name
- NCT00000856
- Testing
- Foscarnet sodium, Ganciclovir
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Mitochondrial Diseases, Mitochondrial Encephalomyopathy
Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy…
- Conditions
- Mitochondrial Diseases, Mitochondrial Encephalomyopathy, Mitochondrial Encephalopathy, Mitochondrial DNA Depletion
- Trial name
- dC-dT-MDS (NCT04802707)
- Testing
- deoxycytidine and deoxythymidine
- Where
- Canada
- Volunteers
- 200 people
- Sponsor
- Kenneth Myers, MD
Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism
The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that aims to define the relationship between infection, immunity and clinical decline in…
- Conditions
- Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders, Leigh Disease
- Trial name
- NCT01780168
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Inherited Mitochondrial Disease, Including Leigh Syndrome
Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease
To evaluate safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) administered at a target maintenance dose of 1.3 g/m²/day in two divided doses, every 12 hours, for up to 6 months in…
- Trial name
- MITO-001 (NCT02023866)
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 36 people
- Sponsor
- Amgen
MELAS Syndrome
Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome
The purpose of this study is to assesses the efficacy of oral supplementation with glutamine over three months on several amino acids and lactate concentration measured in cerebrospinal fluid and cerebral lactate measured by…
- Trial name
- NCT04948138
- Testing
- Glutamine oral supplementation
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- Jesús González de la Aleja Tejera
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
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.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- 2 sites in United States, Australia
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
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
Primary Mitochondrial Disease
OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)
The goal of this clinical trial is to learn about the treatment effects of the investigational new drug OMT-28 in patients with Primary Mitochondrial Disease.
- Trial name
- PMD-OPTION (NCT05972954)
- Testing
- OMT-28
- Where
- 9 sites in Germany, Italy and 1 more
- Volunteers
- 28 people
- Sponsor
- Omeicos Therapeutics GmbH
Urea Cycle Disorders, Organic Acidemias
Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
This is a pilot study which will test the safety and feasibility of hypothermia treatment as adjunct therapy to conventional treatment of hyperammonemic encephalopathy (HAE) in neonates versus conventional treatment (dialysis…
- Trial name
- NCT01624311
- Testing
- Therapeutic Hypothermia, Standard of Care Therapy
- Where
- 3 sites in United States
- Volunteers
- 5 people
- Sponsor
- Uta Lichter-Konecki
Mitochondrial Diseases
A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
A long-term extension study to assess the safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) in children with inherited mitochondrial diseases who previously enrolled into study…
- Trial name
- NCT02473445
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 22 people
- Sponsor
- Amgen
Mitochondrial Neurogastrointestinal Encephalopathy Disease
Evolution of Nutritional Status and Intestinal Function in Patients With MNGIE
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare disease characterized by severe gastrointestinal and neurological dysfunction.
- Trial name
- SN-FI_MNGIE (NCT06784453)
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
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
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
Chronic Fatigue Syndrome
Chronic Fatigue Syndrome: A Presumptive Mitochondrial Disorder
The pathogenesis of chronic fatigue syndrome (CFS) is poorly understood and no effective therapy has been developed. Recent studies suggest that a preceding viral infection causes mitochondrial dysfunction of the brain and…
- Trial name
- CFS:M (NCT01471652)
- Testing
- Nutraceutical supplements
- Where
- United States
- Sponsor
- Columbia University
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
Mucopolysaccharidosis Disorders, Hurler Syndrome
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based…
- Conditions
- Mucopolysaccharidosis Disorders, Hurler Syndrome, Hunter Syndrome, Maroteaux Lamy Syndrome
- Trial name
- NCT02171104
- Testing
- Stem Cell Transplantation, IMD Preparative Regimen, Osteopetrosis Only Preparative Regimen
- Where
- United States
- Volunteers
- 149 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
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
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
A Phase 2b Study of Zagociguat in Patients With MELAS
PRIZM is a Phase 2b randomized, double-blind, placebo-controlled, 3-treatment, 2-period, crossover study evaluating the efficacy and safety of oral zagociguat 15 and 30 mg vs.
- Trial name
- PRIZM (NCT06402123)
- Testing
- zagociguat 15mg, zagociguat 30mg
- Where
- 20 sites in United States, Australia and 4 more
- Volunteers
- 43 people
- Sponsor
- Tisento Therapeutics
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
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