Girl with Mitochondrial Disease Celebrates 18th Birthday Thanks to Doctors and Her Own Determination
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Girl with Mitochondrial Disease Celebrates 18th Birthday Thanks to Doctors and Her Own Determination

Mitochondrial Disease Mitochondrial disease is a rare and progressive condition that currently does not have a cure. The mitochondria is responsible for providing energy to the body. This energy is used…

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Study Reinforces the Importance of Vaccines for Congenital Lactic Acidosis Patients and Other Rare Diseases

A recent study published in PLOS ONE has reinforced the importance of vaccinations specifically for those already fighting a rare disease. This study was written by Sylvie Lesage from the…

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September 13-19 is Mitochondrial Disease Awareness Week: Spreading Rare Disease Awareness
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September 13-19 is Mitochondrial Disease Awareness Week: Spreading Rare Disease Awareness

The third week of September is recognized annually as Mitochondrial Disease Awareness Week. This global event is held in order to increase awareness of mitochondrial disease in the medical community…

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Mitochondrial Disease Patient’s Parents Lose Law Suit Against Four Doctors and Boston Children’s Hospital
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Mitochondrial Disease Patient’s Parents Lose Law Suit Against Four Doctors and Boston Children’s Hospital

  The Boston Globe recently interviewed the principals in a case brought by the Pelletier family against the Boston Children’s Hospital. The article gives details about a family’s charge of…

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Phase 2b Trial for Mitochondrial Diseases has Begun
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Phase 2b Trial for Mitochondrial Diseases has Begun

Khondrion has just announced that the very first patient has been dosed in their Phase 2b study for mitochondrial diseases called KHENERGYZE. This patient population has a high unmet need…

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“We Don’t Know Anything:” a Mitochondrial Encephalomyopathy Story From the Czech Republic
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“We Don’t Know Anything:” a Mitochondrial Encephalomyopathy Story From the Czech Republic

When Lucinka was born, it seemed like everything was all right. But it wasn’t. Lucinka wasn’t doing well, and a whirlwind of examinations began. First, a diagnosis couldn’t be made.…

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After a Childhood Plagued by Illness, This Woman Was Finally Diagnosed With Mitochondrial Disease
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After a Childhood Plagued by Illness, This Woman Was Finally Diagnosed With Mitochondrial Disease

According to a story from Wales Online, Samantha Josey's childhood was characterized by unpleasant symptoms and health problems, resulting in hospital visits and bouts of serious illness. Her symptoms included…

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Study to Test Possible Biomarker for Myopathy Associated With Mitochondrial Disease
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Study to Test Possible Biomarker for Myopathy Associated With Mitochondrial Disease

According to a story from clinicaltrials.gov, the Children's Hospital of Philadelphia is sponsoring a study that has the potential to make mitochondrial disease research and drug development much easier. The…

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Minovia Kicks Off Phase I/II Trial of Experimental Pearson Syndrome Treatment
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Minovia Kicks Off Phase I/II Trial of Experimental Pearson Syndrome Treatment

According to a publication from Business Wire, the Israeli biotechnology company Minovia Therapeutics recently finished dosing the first participant in a phase I/II clinical study of the Company's experimental mitochondrial…

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Study Identifies Broader Range of Clinical Presentation for Mitochondrial Disease
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Study Identifies Broader Range of Clinical Presentation for Mitochondrial Disease

According to a story from Wellcome Center Mitochondrial Research, a multi-center collaborative study that involved researchers from different sites around the UK has resulted in an improved understanding of the…

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The PREFER Project is Working to Include the Patient Voice in Mitochondrial Disease Research

PREFER PREFER stands for Patient Preferences in Benefit-Risk Assessments during the Drug Life Cycle. It is a multi-stage project developed by Newcastle University's Welcome Centre for Mitochondrial Research in effort…

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New Discovery Adds Greater Complexity to the Genetic Basis of Mitochondrial Disease
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New Discovery Adds Greater Complexity to the Genetic Basis of Mitochondrial Disease

According to a story from news-medical.net, a recent study has reshaped the scientific understanding of the origins of mitochondrial disease. For decades any mutation that affected the mitochondrial DNA and…

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Kidney Disease Drug May Have Future Treating Mitochondrial Disorders
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Kidney Disease Drug May Have Future Treating Mitochondrial Disorders

A publication at Science Daily recently announced that findings from Children's Hospital of Philadelphia suggested that cysteamine bitartrate, already used for nephropathic cystinosis (a rare kidney disease), might potentially benefit patients…

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Experimental Treatment Earns Breakthrough Therapy Designation for TK2 Deficiency, a Form of Mitochondrial Disease
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Experimental Treatment Earns Breakthrough Therapy Designation for TK2 Deficiency, a Form of Mitochondrial Disease

According to a story from BioSpace, the biopharmaceutical company Modis Therapeutics recently announced that the US Food and Drug Administration (FDA) has granted Breakthough Therapy designation for the company's experimental…

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