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The drug fosdenopterin/rcPMP has shown significant potential in enhancing survival rates and developmental outcomes for infants suffering from molybdenum cofactor deficiency (MoCD type A), a rare genetic disorder that poses severe metabolic challenges. This breakthrough was detailed in a recent clinical study led by Professor Dr. Günter Schwarz from the Institute of Biochemistry at the University of Cologne.
MoCD type A is an exceptionally rare condition, impacting approximately one in 200,000 to 500,000 newborns. It arises from genetic mutations that prevent the production of the molybdenum cofactor (Moco), a crucial component required for the functioning of various enzymes. The absence of Moco leads to metabolic disruptions, resulting in rapid and irreversible brain damage, often culminating in early childhood mortality.
The recent clinical trial has established that initiating treatment with fosdenopterin within the first days of life can markedly diminish the risk of premature death and foster healthy brain growth. The findings were published in the Journal of Inherited Metabolic Disease under the title “Treatment of molybdenum cofactor deficiency (MoCD) Type A with cyclic pyranopterin monophosphate (cPMP).”
In the absence of treatment, MoCD type A can lead to significant neurological impairments, including seizures and severe developmental delays, with many infants succumbing within their first few months. Historically, therapeutic approaches were limited to symptomatic management, which did not address the root cause of the disorder. However, the study’s authors illustrate that fosdenopterin/rcPMP targets this underlying issue by replenishing the missing cPMP molecule, crucial for restoring metabolic function.
The research revealed promising results; infants treated with the drug showed substantial improvements over those who remained untreated, achieving critical developmental milestones such as sitting, walking, and appropriate feeding behaviors. Many treatment recipients displayed development levels comparable to healthy peers.
Due to the infrequency of MoCD type A, large-scale controlled trials for drug efficacy are challenging. Previous work by the research team highlighted the drug’s effectiveness in a mouse model as early as 2004. Since 2008, the first patients have benefited from fosdenopterin/rcPMP, and the current publication compiles findings from three longitudinal studies that followed 14 patients who received treatment in contrast to 36 untreated counterparts during their initial months of life.
“The results indicate that fosdenopterin/rcPMP can greatly improve the long-term outlook for infants afflicted by MoCD type A,” remarks Professor Dr. Günter Schwarz, the lead author. “These findings underscore the critical need for ongoing research into rare metabolic disorders, facilitating the development of innovative treatment strategies and enhancing the future prospects for affected individuals.”
Fosdenopterin/rcPMP is currently authorized in both the United States and the European Union for treating MoCD type A in infants and young children, marketed under the brand name NULIBRY, produced by Sentynyl Therapeutics, Inc. In 2008, Professor Schwarz and Dr. Santamaria established Orphatec Pharmaceuticals GmbH, initiating a clinical development path for this therapy. Following an out-licensing agreement in 2011, various pharmaceutical companies have advanced the clinical research. The latest study was supported by Origin Biosciences, Inc.
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