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Last Updated: 03/06/2025
Phase 2b Randomized, Double-blind, Placebo-controlled Crossover Study Evaluating the Efficacy and Safety of Zagociguat in Participants with MELAS (PRIZM)
Summary: 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. placebo when administered daily for 12 weeks in participants with genetically and phenotypically defined MELAS.
Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations
Summary: Carriers of the m.3242A\>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms. The investigators would like to learn more about these disorders and have designed a Natural History Study to monitor these conditions over time so that physicians and scientists can not only understand the ...
Fractional Erbium YAG Laser vs Intradermal and Systemic Tranexamic Acid in Combination With Topical Hydroquinone for Refractory Melasma
Summary: Melasma is a common acquired disorder of hyperpigmentaion caused by increased melanin production by melanocytes. Melasma is a name derived from the Greek word melas meaning black.It is characterized by the appearance of brownish or grayish symmetrical patches on sun-exposed skin, most commonly on the face. Compared to men, women are more likely to be affected.
Patterns of Disease, Outcomes and Treatment Response in Children With Neurodevelopmental Disorders
Summary: The purpose of this study is to systematically evaluate the results of medical investigations to identify symptom and biological patterns and common etiologies of neurodevelopmental disorders.
A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders
Summary: 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 production in affected tissues and organs. MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide ...
Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders
Summary: The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.
The International Registry for Leigh Syndrome
Summary: The purpose of this study is to develop a database containing clinical and laboratory information for patients with Leigh syndrome. The goal is to provide a greater understanding of Leigh syndrome allowing further characterization of this disease.
A Patient Registry and Natural History Study of Patients With Biallelic HPDL Mutations
Summary: This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
Last Updated: 03/06/2025