n-Lorem, a nonprofit foundation, today announced the publication of an article in Nature Biotechnology (Crooke, S.T., et al. Nature Biotechnology advanced online publication, July 2023). In this publication, Dr. Crooke and colleagues describe the diagnostic odyssey for Patient 001, n-Lorem’s first nano-rare patient accepted into the program, and provide a call to action for health care reforms to provide an integrated approach for delivery of care for these patients. n-Lorem is a nonprofit founded to discover, develop and provide personalized experimental antisense oligonucleotide (ASO) medicines for nano-rare patients (1 to 30 patients worldwide) for free, for life.
“Within days of Connor’s birth, he began having symptoms, some of them severe enough to require hospitalization, but it was not until he began having seizures at eight months that the medical community concluded that his health issues were serious. At this time, genomic sequencing was evolving, and it took four years, persistence, and personal resources to receive an accurate, genetic diagnosis. Even with his diagnosis, it was immediately apparent that very little was known about his genetic disease, there was no change to any of his treatments or medications and certainly no therapeutic option to treat the underlying genetic cause of his disease,” said Kelley Dalby, co-author on the publication and mother of Patient 001. “Connor is now 13 years old and continues to suffer from symptoms of his disease on a daily basis, and every single aspect of his life, as well as our family’s life, is affected by the lack of treatment options available, but thanks to Stan Crooke and n-Lorem, there may be a treatment that could finally target his specific mutation.”
n-Lorem is a nonprofit committed to meeting the needs of nano-rare patients by creating individualized experimental ASO medicines designed to target each patient’s unique genetic cause of disease. By industrializing the treatment of nano-rare patients, n-Lorem assures that each step in the process is of the highest quality possible by bringing knowledge, technical expertise, high quality systems and processes together for each and every patient program.
In this paper, Patient 001 is used as an example of the challenges parents and patients face to achieve a diagnosis and treatment in the nano-rare population. A nano-rare patient is likely one of one to thirty people in the world with that exact single gene mutation. Health care reforms are needed to better meet the needs of nano-rare patients.
“At n-Lorem we have accepted for treatment multiple patients like Connor, whose families have had to go to extraordinary lengths to receive a diagnosis. Even upon diagnosis, the challenges these patients and their families face are significant as they search to find a skilled physician capable of providing long-term care. In desperation, many of these families will establish nonprofits to find other patients with similar diagnoses and to fund the basic research needed to understand their unique disease. The burden that these patients and their family’s shoulder is enormous and, as a society, we can certainly do better than this,” said Stanley T. Crooke, M.D., Ph.D., Founder, chairman and CEO, n-Lorem Foundation.
“The need for holistic care and support for nano-rare patients is both a health and economic issue. Today, health care for these patients can be extremely costly with significant loss of productivity for nano-rare patients and their families. In this paper, I outline areas of reform that could couple the advances in health care technology with an integrated approach to address nano-rare patients and enable precision medicine treatment options,” concluded Dr. Crooke.
The correspondence “A way forward for diagnosis of patients with extremely rare genetic mutations” by Stanley T. Crooke, Olivia S. Kim-McManus and Kelley Dalby is available now as an advanced article published online in July 2023 in Nature Biotechnology.
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