Clinical trials: Mitochondrial Metabolism Disorders
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
Leber Hereditary Optic Neuropathy
Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)
This study is meant to assess the safety and efficacy of rAAV2-ND4 treatment of Leber hereditary optic neuropathy with 11778 LHON mutation.
- Trial name
- rAAV2-ND4 (NCT01267422)
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Bin Li
Mitochondrial Disease
Vatiquinone Expanded Access Protocol
The purpose of this study is to provide participants who successfully completed the study titled "An Open-label, Safety Study for Previously Treated Vatiquinone (PTC743) Subjects With Inherited Mitochondrial Disease" with liquid…
- Trial name
- EAP (NCT07159139)
- Testing
- Vatiquinone
- Sponsor
- Medical University of South Carolina
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
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant
Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation
The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.
- Conditions
- Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant, Optic Atrophies, Hereditary, Kjer Optic Atrophy
- Trial name
- NCT06140329
- Where
- 7 sites in United States, Australia and 4 more
- Volunteers
- 1 people
- Sponsor
- PYC Therapeutics
Friedreich Ataxia
A Study to Learn About the Effects and Safety of RTA 408 (Omaveloxolone) in People Aged 16 to 40 With Friedreich's Ataxia
In this study, researchers are learning more about RTA 408, also known as omaveloxolone, BIIB141, or SKYCLARYS®. The main goal of this study is to learn more about the safety of RTA 408 and how it affects physical effort…
- Trial name
- NCT02255435
- Testing
- Omaveloxolone Capsules, 2.5 mg, Omaveloxolone Capsules, 5 mg, Omaveloxolone Capsules, 10 mg
- Where
- 11 sites in United States, Australia and 3 more
- Volunteers
- 172 people
- Sponsor
- Biogen
Cytomegalovirus Retinitis, HIV Infections
The Safety and Effectiveness of Ganciclovir Used Alone or in Combination With Granulocyte-Macrophage Colony Stimulating Factor in the Treatment of Cytomegalovirus (CMV) of the Eye in Patients With AIDS
AMENDED: To evaluate the effect of sargramostim ( GM-CSF ) on modulating the granulocytopenia associated with concomitant DHPG and AZT therapy ( Phase B ), in terms of time to development of granulocytopenia as defined by an…
- Trial name
- NCT00000989
- Testing
- Zidovudine, Sargramostim, Ganciclovir
- Where
- 4 sites in United States
- Volunteers
- 50 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Neurodegenerative Disease, Hereditary, Mitochondrial Diseases
Natural History Study of SLC25A46 Mutation-related Mitochondriopathy
The purpose of the study is to systematically characterize the clinical course of the progressive neuropathy and optic atrophy observe in pediatric and adult patients with biallelic mutations in the solute carrier family 25…
- Conditions
- Neurodegenerative Disease, Hereditary, Mitochondrial Diseases, Optic Atrophy
- Trial name
- NCT04594590
- Testing
- Mutation analysis
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- State University of New York at Buffalo
Friedreich Ataxia
Interferon Gamma-1b in Friedreich Ataxia (FRDA)
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy.
- Trial name
- NCT01965327
- Testing
- Interferon Gamma-1b
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Children's Hospital of Philadelphia
Leigh Syndrome
Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome
EPI-743 in Leigh syndrome participants that participated in previous EPI743-12-002 (NCT01721733) study.
- Trial name
- NCT02352896
- Testing
- EPI-743
- Where
- 4 sites in United States
- Volunteers
- 30 people
- Sponsor
- PTC Therapeutics
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
Friedreich Ataxia
Micronised Resveratrol as a Treatment for Friedreich Ataxia
The aim of this study is to assess the efficacy of micronised resveratrol as a treatment for FRDA, in terms of reducing the severity of ataxia symptoms at 24 weeks, through a randomised blinded, placebo controlled crossover trial.
- Trial name
- NCT03933163
- Testing
- Resveratrol
- Where
- 4 sites in Australia
- Volunteers
- 25 people
- Sponsor
- Murdoch Childrens Research Institute
FXN Gene, FRDA
Biomarker for Friedreich's Ataxia (BioFridA)
International, multicenter, observational, longitudinal monitoring study to identify biomarker/s for Friedreich's Ataxia and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s
- Conditions
- FXN Gene, FRDA, Hereditary Diseases
- Trial name
- BioFridA (NCT04548921)
- Where
- Lebanon
- Volunteers
- 1,000 people
- Sponsor
- CENTOGENE GmbH Rostock
Friedreich Ataxia
Open Trail of γIFN for Friedreich Ataxia
The investigator proposes an open label pilot study to investigate the safety and efficacy of gamma interferon (γIFN) in patients with Friedreich's Ataxia (FRDA).
- Trial name
- NCT03888664
- Testing
- gamma interferon
- Volunteers
- 12 people
- Sponsor
- IRCCS Eugenio Medea
Cytomegalovirus Retinitis, HIV Infections
An Open Label Evaluation of the Safety and Pharmacokinetics of Ganciclovir in Children
To evaluate the pharmacokinetics of intravenous ganciclovir in children (ages 3 months - 12 years). To determine the safety and tolerance of a 2 to 3 week induction course of ganciclovir IV in immunocompromised children receiving…
- Trial name
- NCT00002015
- Testing
- Ganciclovir
- Where
- 8 sites in United States
- Volunteers
- 20 people
- Sponsor
- Roche Global Development
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's Hereditary Optic Neuropathy (LHON)
Historical Case Record Survey of Visual Acuity Data From Patients With Leber's Hereditary Optic Neuropathy (LHON)
The purpose of this survey is to collect visual acuity data from patients with LHON in order to establish the clinical course (natural history) and visual acuity outcomes in patients with a genetically confirmed diagnosis of…
- Trial name
- NCT02796274
- Where
- 21 sites in Belgium, France and 5 more
- Volunteers
- 219 people
- Sponsor
- Santhera Pharmaceuticals