[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mitochondrial-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mitochondrial-disease":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,45,72,97,124,151],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":27,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100394730","acute-infection-in-mitochondrial-disease-metabolism-infection-and-immunity-100394730",false,"NCT04419870","Acute Infection in Mitochondrial Disease: Metabolism, Infection and Immunity","Acute Infection in Mitochondrial Disease: An Observational Prospective Natural History Study of Metabolism, Infection and Immunity","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following\n\ncriteria:\n\nGroup 1a\n\n1. Participants must be two months of age or older.\n2. Participants must have a diagnosis of mitochondrial disease based on a determination by a physician with expertise in genetics and\u002For neurology. Supportive evidence may include genetic testing, muscle biopsy, biochemical testing, neuroimaging or enzyme analysis consistent with mitochondrial disease.\n3. At the time of enrollment, participants must have suspected or confirmed acute infection as defined by\n\n   1. New onset of any of the following symptoms within one month of enrollment without an alternative diagnosis: fever, cough, shortness of breath, fatigue, sore throat, rhinorrhea, musculoskeletal pain, vomiting, diarrhea, anosmia, neurologic decline; AND report that testing for infection (e.g. respiratory viral panel, SARS15 COV-2 testing) is clinically indicated based on evaluation by a healthcare provider.\n\n      OR\n   2. Laboratory confirmed positive testing for an infectious disease as performed at a local healthcare setting.\n\nNote: At the time of initial approval of this protocol, testing for COVID-19\u002FSARSCov-2 was not consistently available. In order to avoid bias by limiting recruitment to only those individuals with access to these healthcare resources, inclusion criteria for participants with acute illness were intentionally kept broad. Participants in Group 1 who were initially suspected to have COVID-19 but later found to have an alternative infectious illness were used for comparison studies. In 2023, after the end of the COVID-19 emergency, inclusion criteria for this study were broadened to focus on all acute infections in mitochondrial disease in order to characterize relationships between specific pathogens, immunophenotypes and clinical phenotypes in mitochondrial disease. Please also note that there is no minimum weight requirement for Group 1. However, there is a minimum weight requirement for phlebotomy procedures. Group 1 participants who do not meet minimum weight requirements may enroll for records and questionnaires only.\n\nGroup 1b\n\n1. Participants must be two months of age or older.\n2. Participants must have a diagnosis of mitochondrial disease based on a determination by a physician with expertise in genetics and\u002For neurology. Supportive evidence may include genetic testing, muscle biopsy, biochemical testing, neuroimaging or enzyme analysis consistent with mitochondrial disease.\n3. At the time of enrollment, participants may not have evidence of any acute infection.\n\nNote: Some participants may initially enroll in Group 1b and later experience acute infection, in which case they may be moved from Group 1b to Group 1a.\n\nGroup 2\n\n1. Participants must be two months of age or older.\n2. Participants must weigh greater than 4 kilograms.\n3. Participants must be household or family member of a participant in Group 1 above.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\nGroups 1 a\\&b\n\n1. Participants who are less than two months of age.\n2. Participants who do not have mitochondrial disease.\n3. Study team may decline to enroll a participant for other reasons based on clinical judgement.\n\nGroup 2\n\n1. Participants who are less than two months of age.\n2. Participants who are not household or family members of Group 1.\n3. Study team may decline to enroll a participant for other reasons based on clinical judgement.",true,"ALL","2 Months","115 Years",{"count":21,"type":22},400,"ESTIMATED","OBSERVATIONAL","Background:\n\nMitochondrial 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 these infections and the declining health of people who have this disease. To do this, researchers will study the DNA of people who become ill. Their DNA will be compared to the DNA of their household\u002Ffamily members.\n\nObjective:\n\nTo learn more about how genes affect people with mitochondrial disease.\n\nEligibility:\n\nPeople age 2 months and older with mitochondrial disease and their household\u002Ffamily members. .\\\u003CTAB\\>\n\nDesign:\n\nParticipants will complete a questionnaire about their health history. Their medical records may be reviewed. They will give a blood sample.\n\nIf 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.\n\nParticipants 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.\n\nParticipation lasts about 1 year. This may be extended if the participant is very ill.",[26],"Mitochondrial Disease",[28,29,30,31],"Genetics","Phenotype","Virus","Natural History","RECRUITING","2026-06-12",{"date":35,"type":36},"2026-06-15","ACTUAL",{"date":38,"type":36},"2020-10-21",{"date":40,"type":22},"2027-05-01",{"name":42,"class":43},"National Human Genome Research Institute (NHGRI)","NIH",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":51,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":53,"targetDuration":4,"studyType":55,"phases":56,"briefSummary":58,"conditions":59,"keywords":4,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":71},"100632278","development-of-a-new-technique-for-quantifying-mitochondrial-dna-in-single-muscle-fibers-100632278","NCT07511608","Development of a New Technique for Quantifying Mitochondrial DNA in Single Muscle Fibers","Development of a New Technique for Quantifying Mitochondrial DNA in Single Muscle Fibers, as a Tool for Interpreting Variants of Uncertain Significance in Mitochondrial Diseases","DIGITAL_MITO","Inclusion Criteria:\n\n* major or minor patients, sporadic or isolated cases\n* Signature of informed consent, for minor patients : signature of both parents or holders of parental authority, unless it is impossible to obtain the consent of one of the parents within a reasonable period of time\n* Affiliation to a social security system\n* Suspicion of a mitochondrial disorder, as assessed by the clinician at the Mitochondrial Diseases Reference Center, based on at least one of the following:\n\n  * Clinical presentation suggestive of a mitochondrial disorder (unusual combination of symptoms, specific syndromes such as MELAS, muscle weakness, ptosis, etc.) and\u002For\n  * Metabolic workup indicative of respiratory chain involvement and\u002For\n  * Identification of a deficit affecting one or more respiratory chain complexes in a muscle biopsy.\n* Patient with a previously identified mitochondrial DNA variant of uncertain significance (VUS).\n* Histological analysis of muscle biopsy showing at least 5 COX-negative fibers.\n* Muscle biopsy available and possibility to retrieve slides from the pathology laboratory.\n\nExclusion Criteria:\n\n* Refusal to sign the study consent.\n* Individuals admitted to a healthcare or social facility for purposes other than research participation.\n* Adults subject to legal guardianship (guardianship, conservatorship)\n* Pregnant or breastfeeding women",{"count":54,"type":22},4,"INTERVENTIONAL",[57],"NA","Mitochondrial diseases (MDs) are the most common metabolic disorders. Due to their great clinical and genetic heterogeneity, their diagnosis relies exclusively on the identification of pathogenic variants in nuclear genes or in mitochondrial DNA (mtDNA). However, to date, 50% of affected patients remain without a definitive diagnosis. The advent of next-generation sequencing (NGS) has improved diagnostic yield, but many identified variants remain of uncertain significance (VUS), preventing a definitive diagnosis. The clinical interpretation of these newly identified rare variants therefore represents a major challenge.\n\nIn the context of MDs, one of the major criteria for mtDNA variant pathogenicity is a good correlation between heteroplasmy level and tissue or cellular involvement. Heteroplasmy refers to the coexistence, within the same cell or tissue, of mutated and non-mutated mtDNA molecules. Pathogenic mtDNA variants are most often heteroplasmic, with the most affected tissues harboring a higher proportion of mutated mtDNA. In muscle biopsies from patients with MDs, muscle fibers may show a cytochrome c oxidase (COX) enzymatic deficiency (COX-negative fibers), reflecting dysfunction of the mitochondrial respiratory chain (MRC). Single-fiber analysis makes it possible to isolate muscle fibers by LASER microdissection and to quantify the heteroplasmy level of a variant within them. The presence of a high heteroplasmy level in COX-negative fibers, in contrast to fibers without deficiency (COX-positive fibers), is strong evidence supporting the pathogenicity of the variant. In previous projects, we tested two variant quantification techniques (PCR-RFLP and NGS), but these methods remain too labor-intensive or costly and are therefore difficult to maintain in routine practice.\n\nThis pilot study aims to develop a new method for quantifying heteroplasmy levels using digital PCR. Faster and less expensive, this approach could simplify technical implementation and reduce analysis costs, thereby facilitating its integration into clinical practice. Initially, a feasibility study will begin with validation of digital PCR on DNA extracted from blood samples of two patients carrying pathogenic variants identified in a previous study (AOI 2017 IDRCB: 2017-A00688-45). This validation will compare digital PCR with the PCR-RFLP method for heteroplasmy quantification and assess the reliability and reproducibility of the technique. Once validation is achieved, digital PCR will be tested on DNA extracted from microdissected muscle fibers from the same patients to evaluate its feasibility at the single-fiber level, with comparison to PCR-RFLP results. If feasibility at the single-fiber level is confirmed, the method will then be tested in four new patients from the Mitochondrial Diseases Reference Center, in whom variants of uncertain significance have been identified and for whom muscle biopsies with COX-negative fibers are available. Additional samples (blood, urine, and buccal swabs) will be collected to assess heteroplasmy levels across different tissues. If validated, this technique could be applied to a larger number of patients and integrated into the diagnostic strategy for mitochondrial diseases.\n\nMoreover, digital PCR could also be used to quantify mtDNA copy number, an essential biomarker for monitoring patients with MDs. To this end, mtDNA is partitioned into thousands of nanowells, and absolute quantification is obtained by counting fluorescent signals emitted by positive partitions, with a nuclear DNA probe serving as an internal control. This validation will be performed using the same blood samples and muscle fibers, by comparing digital PCR results with those obtained using the reference method, quantitative PCR (qPCR).\n\nThe primary objective of this study is to reduce diagnostic odysseys by simplifying existing methods. In addition, the application of digital PCR to quantify mtDNA copy number could offer new perspectives, particularly as a biomarker for patient monitoring and the development of clinical trials.",[26],"NOT_YET_RECRUITING","2026-03-30",{"date":63,"type":36},"2026-04-06",{"date":65,"type":22},"2026-06-01",{"date":67,"type":22},"2029-06-01",{"name":69,"class":70},"Centre Hospitalier Universitaire de Nice","OTHER",3,{"id":73,"slug":74,"hasResults":11,"nctId":75,"briefTitle":76,"officialTitle":77,"acronym":4,"eligibilityCriteria":78,"healthyVolunteers":16,"sex":17,"minAge":79,"maxAge":80,"enrollmentInfo":81,"targetDuration":4,"studyType":55,"phases":83,"briefSummary":85,"conditions":86,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":88,"lastUpdatePostDateStruct":89,"startDateStruct":91,"completionDateStruct":93,"leadSponsor":95,"locationsCount":44},"100579083","phase-1-validation-of-nanosensor-oxygen-measurement-100579083","NCT06819683","Validation of Nanosensor Oxygen Measurement","The Validation of Minimally Invasive Oxygen Nanosensor Technology to Quantify Mitochondrial Function in Human Muscle","Inclusion Criteria:\n\n* Inclusion Criteria for Healthy Controls\n\n  1. Males and females, between the ages of 18 and 65 years, inclusive\n  2. Provide informed consent for study participation; able to understand and complete the protocol\n  3. Able to ambulate independently\n  4. Able to perform bicycle ergometry\n\nInclusion Criteria for Mitochondrial Myopathy (MM) Cases\n\n1. Males and females, between the ages of 18 and 65 years, inclusive\n2. Provide informed consent for study participation; able to understand and complete the protocol\n3. Genetically-confirmed MM as defined by a diagnosis of primary mitochondrial disease (PMD) with predominant symptoms of myopathy as expressed by exercise intolerance and muscle weakness and fatigue.\n4. Previously enrolled (or will enroll) in Children's Hospital of Philadelphia (CHOP) Institutional Review Board (IRB) study #08-006177 (Falk, PI) or CHOP IRB #16-013364 (Zolkipli, PI)\n5. Able to ambulate independently\n6. Able to perform bicycle ergometry\n\nExclusion Criteria:\n\nSubjects will be excluded if any of the following apply:\n\n1. Unable to provide informed consent and complete all study procedures, including ergometry\n2. Non-ambulatory or unable to ambulate independently\n3. Pregnant\n4. Within 1 month of a recent hospital admission due to acute illness\n5. Have severe cardiac disease as defined by an ejection fraction of less than 35% and New York Heart Association Functional Classification Class III; or severe pulmonary disease as defined by the need for supplemental O2 therapy or daytime ventilatory support\n6. Have a tracheostomy\n7. Have a known bleeding disorder and\u002For family history (first-degree relative) with a known bleeding disorder\n8. Daily intake of aspirin or any other anti-platelet therapy which cannot be temporarily discontinued for medical reasons\n9. a) Have known or suspected congenital or acquired immune deficiency; b) concurrent use of immunosuppressive drugs, including corticosteroids; c) past history of recurrent (more than 6 times per year) severe (required hospitalization) skin or soft tissue infections; d) history of infection or delayed wound healing after surgery or biopsy; e) known history of neutropenia with absolute neutrophil count less than 500\u002Fmm3\n10. Undergo chronic steroid treatment as defined by daily oral intake (for more than 1 month) or have existing untreated endocrinopathies, such as hypothyroidism that caused acquired myopathy\n11. Prone to hypertrophic scars and keloids\n12. Have any other known inherited myopathy, such as Duchenne muscular dystrophy or congenital myopathy\n13. Known allergy to lidocaine\n14. Have a cognitive impairment that may prevent the ability to complete study procedures\n15. Unable to comply with the requirements of the study protocol and\u002For unsuitable for the study for any reason, in the opinion of the principal investigator\n16. Individuals from vulnerable populations (e.g., prisoners\u002Fdetainees)\n17. Participants who are unable to speak and\u002For read English (as participants will be required to be proficient to complete study procedures)\n18. Employed by the U.S. Department of Defense, including U.S. military personnel","18 Years","65 Years",{"count":82,"type":22},96,[84],"PHASE1","Past mitochondrial disease treatment studies have been unsuccessful in determining treatment efficacy, and a major factor has been the lack of validated biomarkers in mitochondrial myopathy (MM). There is currently a growing number of potential new treatments to be tested through MM clinical intervention trials, which has created a pressing need for quantitative biomarkers that reliably reflect MM disease severity, progression, and therapeutic response. The purpose of the study is to measure the efficacy of an electrochemical oxygen nanosensor to measure in vivo mitochondrial function in human muscle tissue, and its ability to discriminate MM patients from healthy volunteers. The data and results from this nanosensor study may contribute to current and future research, including improved diagnostic and therapeutic approaches for patients with mitochondrial disease.",[87,26],"MItochondrial Myopathies","2026-02-13",{"date":90,"type":36},"2026-02-17",{"date":92,"type":36},"2025-01-02",{"date":94,"type":22},"2026-09",{"name":96,"class":70},"Children's Hospital of Philadelphia",{"id":98,"slug":99,"hasResults":11,"nctId":100,"briefTitle":101,"officialTitle":102,"acronym":4,"eligibilityCriteria":103,"healthyVolunteers":11,"sex":17,"minAge":79,"maxAge":104,"enrollmentInfo":105,"targetDuration":4,"studyType":55,"phases":107,"briefSummary":108,"conditions":109,"keywords":110,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":115,"lastUpdatePostDateStruct":116,"startDateStruct":118,"completionDateStruct":120,"leadSponsor":122,"locationsCount":44},"100457796","phase-1-study-of-n-acetylcysteine-in-the-treatment-of-patients-with-the-m3243ag-mutation-and-low-brain-glutathione-levels-100457796","NCT05241262","Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels","A Multiple Ascending Phase 1 Dose Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels","Inclusion Criteria:\n\n* Ages 18-80 years\n* Low brain glutathione (GSH) levels as determined by magnetic resonance spectroscopic imaging (MRSI)\n* Individuals who carry, or are suspected of carrying the m.3243A\\>G mitochondrial mutation (genetic confirmation of mutation required prior to initiation of NAC)\n\nExclusion Criteria:\n\n* Individuals with normal brain glutathione levels\n* Pregnant or lactating individuals\n* Medically unstable as determined by the Principal Investigator\n* Allergy to NAC or other sulfur-containing drug\n* Inability to adhere to study protocol","80 Years",{"count":106,"type":22},18,[84],"N-Acetylcysteine (NAC), an anti-oxidant, will be studied to investigate the effects on brain glutathione levels, cognitive skills, motor skills, and quality of life.\n\nA group of 18 participants will take either 1800, 3600 or 5400 mg per day of N-acetylcysteine (NAC) for 3 months in this dose escalation study. The investigators want to determine first if the 3600 mg dose per day is safe and might provide some efficacy. If the 3600 mg dose is safe, then additional participants will be treated with 5400 mg per day of NAC, for up to a total of 18 participants. If the 3600 mg per day dose is unsafe, then participants will be treated with the 1800 mg per day dose. Data from this pilot study will be used to determine the most safe and effective dose of NAC for a future clinical trial.",[26],[111,112,113,114],"m.3243A>G","MELAS","diabetes","deafness","2026-01-22",{"date":117,"type":36},"2026-01-23",{"date":119,"type":36},"2023-07-06",{"date":121,"type":22},"2026-03",{"name":123,"class":70},"Michio Hirano, MD",{"id":125,"slug":126,"hasResults":11,"nctId":127,"briefTitle":128,"officialTitle":129,"acronym":130,"eligibilityCriteria":131,"healthyVolunteers":11,"sex":17,"minAge":132,"maxAge":4,"enrollmentInfo":133,"targetDuration":4,"studyType":55,"phases":135,"briefSummary":136,"conditions":137,"keywords":4,"overallStatus":60,"whyStopped":4,"lastUpdateSubmitDate":141,"lastUpdatePostDateStruct":142,"startDateStruct":144,"completionDateStruct":146,"leadSponsor":148,"locationsCount":44},"100612829","phase-1-pilot-study-of-the-efficacy-of-nicotinamide-vitamin-b3-in-lebers-hereditary-optic-neuropathy-100612829","NCT07258667","Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber's Hereditary Optic Neuropathy","NICOLHON - Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber's Hereditary Optic Neuropathy","NICOLHON","Inclusion Criteria:\n\n* Patients aged 16 years or older.\n* Diagnosis of Leber Hereditary Optic Neuropathy (LHON) due to a confirmed mitochondrial DNA mutation m.11778G\\>A or m.3460G\\>A.\n* Onset of LHON symptoms less than 18 months before inclusion.\n* Naïve to nicotinamide treatment for at least 3 months prior to inclusion.\n* Able to take oral medication and comply with study procedures.\n* Affiliated with or beneficiary of a social security system.\n* Signed informed consent (or parental consent for minors; assent for minors when applicable).\n\nExclusion Criteria:\n\n* Asymptomatic carriers of m.11778G\\>A or m.3460G\\>A mutations (no clinical LHON).\n* LHON due to other mitochondrial DNA mutations or nuclear DNA mutations.\n* LHON onset more than 18 months before inclusion.\n* Current or recent treatment with idebenone (within 3 months).\n* Severe associated ophthalmologic disease (e.g., advanced glaucoma, retinal pathology).\n* Patients treated with gene therapy.\n* Elevated liver enzymes (ASAT and\u002For ALAT \\> 2× upper normal limit) at screening or within 2 months prior to inclusion.\n* Pregnant, breastfeeding, or postpartum women.\n* Known contraindication to nicotinamide or allergy\u002Fintolerance to lactose or galactose.\n* Persons deprived of liberty by judicial or administrative decision.\n* Subjects under legal protection or psychiatric care under constraint.\n* Unable to provide informed consent.\n* Participation in another interventional study affecting LHON management.\n* Any condition that, in the investigator's judgment, could compromise patient safety or study integrity.","16 Years",{"count":134,"type":22},13,[84],"Leber Hereditary Optic Neuropathy (LHON) is a rare genetic disease that causes sudden and severe vision loss, usually in young adults. It is linked to mutations in mitochondrial DNA that impair energy production in retinal ganglion cells, leading to degeneration of the optic nerve. Currently, treatment options are very limited and often ineffective. Recent research has shown that patients with LHON have lower levels of nicotinamide (vitamin B3), a key molecule for mitochondrial energy metabolism. Nicotinamide is a precursor of NAD, an essential cofactor for cellular energy production. Experimental studies and clinical trials in related optic nerve diseases suggest that nicotinamide may protect retinal ganglion cells. Our hypothesis is that supplementation with high-dose nicotinamide could restore NAD levels, support mitochondrial activity, and help preserve or improve vision in LHON. This pilot study will evaluate the effectiveness and safety of oral nicotinamide (2 grams per day for 12 months) in patients who developed LHON within the past 18 months and carry one of the two most severe mutations (m.11778G\\>A or m.3460G\\>A). The main goal is to measure changes in visual acuity over time using standardized eye charts. Secondary objectives include assessing visual fields, retinal structure by optical coherence tomography (OCT), blood nicotinamide levels, and quality of life. Liver function will be monitored to ensure safety. If this study shows promising results, it could pave the way for a larger randomized trial and ultimately offer a new therapeutic option.",[138,139,26,140],"Leber Hereditary Optic Neuropathy (LHON)","Leber's Hereditary Optic Neuropathy (LHON)","Optic Nerve Disease","2025-12-11",{"date":143,"type":36},"2025-12-18",{"date":145,"type":22},"2026-04",{"date":147,"type":22},"2028-04",{"name":149,"class":150},"University Hospital, Angers","OTHER_GOV",{"id":152,"slug":153,"hasResults":11,"nctId":154,"briefTitle":155,"officialTitle":156,"acronym":4,"eligibilityCriteria":157,"healthyVolunteers":11,"sex":17,"minAge":79,"maxAge":158,"enrollmentInfo":4,"targetDuration":4,"studyType":159,"phases":4,"briefSummary":160,"conditions":161,"keywords":163,"overallStatus":170,"whyStopped":4,"lastUpdateSubmitDate":171,"lastUpdatePostDateStruct":172,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":174,"locationsCount":44},"100587703","expanded-access-program-for-r007-probucol-tablets-in-adults-with-mitochondrial-disease-and-chronic-kidney-disease-100587703","NCT06931834","Expanded Access Program for R007 (Probucol) Tablets in Adults With Mitochondrial Disease and Chronic Kidney Disease","Expanded Access Treatment Protocol for R007 (Probucol) Tablets in Adults With Genetically-Confirmed Mitochondrial Disease and Chronic Kidney Disease (Intermediate-Size Patient Population)","Inclusion Criteria\n\nA patient must meet all of the following criteria to be eligible:\n\n1. Age 18 to 75 years inclusive;\n2. Diagnosis of genetically-confirmed mitochondrial disease with a pathogenic mutation or defect in their mitochondrial or nuclear DNA;\n3. Diagnosis of chronic kidney disease stage 3 or stage 4;\n4. Moderate or severe symptomatology of mitochondrial disease;\n5. A sexually-active patient agrees to practice acceptable methods of contraception throughout the protocol period;\n6. The patient is not eligible for, or does not have access to, a clinical trial;\n7. The patient (or guardian\u002Flegal representative) provides signed and dated informed consent to be treated with probucol in accordance with the expanded access protocol.\n\nExclusion Criteria\n\nA patient who meets any of the following criteria will not be eligible:\n\n1. A known hypersensitivity or adverse reaction to probucol;\n2. A medical condition or laboratory result that, in the opinion of the treating physician, will interfere with the safe completion of the protocol;\n3. An active fungal infection, acute blood, lung, or bladder infection, clinically significant hepatic or renal dysfunction, and\u002For viral infection (past or present) that, in the opinion of the treating physician, may have a clinically significant effect on their treatment;\n4. Taking an investigational drug other than probucol within one month prior to the first dosing with probucol under the protocol;\n5. A medical history or condition that increases the potential for QTc prolongation;\n6. A female with a positive pregnancy test result or who is breastfeeding;\n7. Has received or is receiving kidney dialysis;\n8. Has received or is scheduled to receive an organ transplant;\n9. Known or suspected active alcohol and\u002For substance abuse;\n10. A history of or current suicidal ideation, behavior, and\u002For attempts; or\n11. Is unable to swallow tablets or requires gastric feeding.","75 Years","EXPANDED_ACCESS","The purpose of this expanded access program is to enable access to R007 (probucol) tablets for the compassionate treatment of adults with mitochondrial disease who also have chronic kidney disease.",[26,162],"Chronic Kidney Disease",[164,165,166,167,168,169],"Mitochondrial disease","Chronic kidney disease","Myopathy","Genetic disease","Rare disease","Probucol","AVAILABLE","2025-04-11",{"date":173,"type":36},"2025-04-17",{"name":175,"class":176},"RiboNova Inc.","INDUSTRY"]