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Treating Rare Metabolic Muscle Diseases with Dr. Alejandro Dorenbaum Reneo Pharmaceuticals
Manage episode 354748705 series 2949197
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Dr. Alejandro Dorenbaum is the Chief Medical Officer of Reneo Pharmaceuticals, developing treatments for primary mitochondrial myopathy, a type of rare metabolic muscle disease. Now with genetic testing, there are special panels devoted to diagnosing PMM that can provide quick results for an accurate diagnosis. Unfortunately, no treatment options are currently available, and physicians only treat the complications. REN001, a drug developed by another pharmaceutical company, is being tested in clinical trials to address muscle strength.
Alejandro explains, "The myopathies and, specifically, our lead program is in primary mitochondrial myopathy. Primary mitochondrial myopathies are a group of diseases where genes that code for proteins involved in mitochondrial function are affected. So these patients can have defects both in the nuclear genes of the muscle cells or in the mitochondrial genes, and then there are defects in the ability to manage fats in the cell as a source of energy."
"We then did a Phase 1 trial in patients with PMM and treated patients in an open-label fashion for 12 weeks. We used several measurements to see if the drug could potentially work in these patients. One of the measurements we used was a twelve-minute walk test. This is a test where you ask the patient to walk as fast as they can for twelve minutes and you measure the distance they walk."
"Now, people may have heard about the six-minute walk test as one that is used frequently, but we use the twelve-minute walk test because, remember, these patients have a problem in the metabolism of the fats. And the fats are usually metabolized when you move, late in the onset of exercise. When you first exercise, you use phosphocreatine, and then you use glycogen. It's only around five to six minutes into exercise that you start using oxidative phosphorylation, which is the mechanism by which you break down fats as a source of energy. So that's why we did a twelve-minute walk test. And interestingly, we saw increases in the distance patients can walk during the twelve-minute walk test."
#ReneoPharmaceuticals #MitochondrialDisease #Mitochondria #RareDisease #Myopathies #MetabolicMuscleDisease
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