Drug Discovery & Development - October 26, 2010
PTC Therapeutics, Inc. announced that it is expanding the development of ataluren, an investigational new drug, with the initiation of a Phase 2 clinical trial in nonsense mutation methylmalonic acidemia (nmMMA). MMA is a rare genetic disorder caused by deficiencies of crucial metabolic enzymes. Lack of these enzymes causes toxic levels of methylmalonic acid to accumulate in body fluids resulting in life-threatening metabolic complications affecting mainly the brain and kidneys.
The primary objective of this multi-center, open-label, dose-ranging trial is to determine whether treatment with ataluren reduces plasma methylmalonic acid levels. The trial will enroll approximately 18 patients who are at least 2 years of age and have MMA due to a nonsense mutation.
"MMA is a debilitating and life-threatening childhood disorder with a poor prognosis. There are few treatment options for MMA patients including severe diet restrictions, certain medications to enhance MMA elimination and other palliative care. However, none of these treatments address the underlying cause of the disease," said Vassili Valayannopoulos, M.D., Metabolic Consultant, and Pediatrician at the Reference Center for Inborn Errors of Metabolism at Necker-Enfants Malades Hospital in Paris, France. "Even with careful management, children with MMA often experience severe chronic symptoms including cognitive disability, growth problems, seizures, kidney failure, and acute life-threatening metabolic attacks triggered by common infections." Matthias Baumgartner, M.D., Director, Division of Metabolism at the University Children's Hospital in Zurich, Switzerland added, "This is an exciting trial for the MMA community as ataluren has the potential for a disease-modifying effect by targeting the underlying genetic defect in patients with nonsense mutation methylmalonic acidemia."
Due to mutations in their genetic code, patients with MMA lack crucial enzymes that are needed to break-down certain amino acids. As a result, the amino acids accumulate in the form of methymalonic acid. Toxic levels of methylmalonic acid lead to metabolic acidosis and tissue damage. It is estimated that nonsense mutations are the basis for the disease in an average of 10 to 20 percent of MMA patients. A genetic test is required to determine if a patient's disease is caused by a nonsense mutation. Ataluren is the first investigational treatment designed to address the underlying cause of nmMMA by promoting restoration of the deficient enzymes.
"The expansion of the ataluren clinical development program into metabolic disorders represents the potential broad applicability of ataluren and our continued commitment to address the urgent medical need among patients living with rare, life-threatening genetic disorders," stated Stuart W. Peltz, Ph.D., President and CEO of PTC Therapeutics.
Date: October 26, 2010
Source: PTC Therapeutics, Inc.
The primary objective of this multi-center, open-label, dose-ranging trial is to determine whether treatment with ataluren reduces plasma methylmalonic acid levels. The trial will enroll approximately 18 patients who are at least 2 years of age and have MMA due to a nonsense mutation.
"MMA is a debilitating and life-threatening childhood disorder with a poor prognosis. There are few treatment options for MMA patients including severe diet restrictions, certain medications to enhance MMA elimination and other palliative care. However, none of these treatments address the underlying cause of the disease," said Vassili Valayannopoulos, M.D., Metabolic Consultant, and Pediatrician at the Reference Center for Inborn Errors of Metabolism at Necker-Enfants Malades Hospital in Paris, France. "Even with careful management, children with MMA often experience severe chronic symptoms including cognitive disability, growth problems, seizures, kidney failure, and acute life-threatening metabolic attacks triggered by common infections." Matthias Baumgartner, M.D., Director, Division of Metabolism at the University Children's Hospital in Zurich, Switzerland added, "This is an exciting trial for the MMA community as ataluren has the potential for a disease-modifying effect by targeting the underlying genetic defect in patients with nonsense mutation methylmalonic acidemia."
Due to mutations in their genetic code, patients with MMA lack crucial enzymes that are needed to break-down certain amino acids. As a result, the amino acids accumulate in the form of methymalonic acid. Toxic levels of methylmalonic acid lead to metabolic acidosis and tissue damage. It is estimated that nonsense mutations are the basis for the disease in an average of 10 to 20 percent of MMA patients. A genetic test is required to determine if a patient's disease is caused by a nonsense mutation. Ataluren is the first investigational treatment designed to address the underlying cause of nmMMA by promoting restoration of the deficient enzymes.
"The expansion of the ataluren clinical development program into metabolic disorders represents the potential broad applicability of ataluren and our continued commitment to address the urgent medical need among patients living with rare, life-threatening genetic disorders," stated Stuart W. Peltz, Ph.D., President and CEO of PTC Therapeutics.
Date: October 26, 2010
Source: PTC Therapeutics, Inc.
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