In an interview with PharmaShots, Dr. Stanley T. Crooke, Founder, and Chief Executive Officer and Chairman of the Board at n-Lorem Foundation share his views on the collaboration with Ultragenyx.

Shots:

• n-Lorem Foundation is the first & only foundation of its kind with a mission to provide life-saving treatments to patients who have diseases caused by extremely rare diseases -- for free, for life, by coupling advanced genomic diagnostics with ASOs medicines
• n-Lorem has a bold, unique mission of developing safe, personalized 'n-of-1'treatments for ultra-rare disease patients -- for free and for life
• The collaboration bolsters n-Lorem's mission to bring immediate hope and rapid treatment to ultra-rare disease patients in need

Tuba: Discuss the key points of your collaboration with Ultragenyx?

 Dr. Stanley: Ultragenyx, one of the leading rare disease companies in the world, is a significant donor to the n-Lorem Foundation and Dr. Emil Kakkis, the CEO, is a member of the n-Lorem advisory council. The additional resources, financial contribution, and experience from both the company and Dr. Kakkis will be critical as n-Lorem continues to scale up its unique charitable treatment model to help patients. This new collaboration bolsters n-Lorem's mission to bring immediate hope and rapid treatment to ultra-rare disease patients in need.

Tuba: Why do you consider the alliance is a major step for the foundation and the patients it serves?

Dr. Stanley: Ultragenyx is one of several collaborations that include Biogen, our contract research organizations that perform toxicology studies and contract manufacture personalize antisense oligonucleotide (ASOs) medicines for us. Ionis Pharmaceuticals is by far the most important collaboration, and we have partnerships with organizations like Undiagnosed Disease Network (UDN) that care for the patients and genetically characterize the patients that we treat.

 Ultragenyx is a biotechnology company and the first biotechnology company other than Biogen and Ionis to join us. Its contribution and collaboration are important but even more important, is the fact that Ultragenyx becoming a supporter and collaborator encourages other biotechnology and pharmaceutical companies to join us in support of these patients. With more support from additional collaborators and donors, we can improve the lives of more patients in need.

Tuba: Put some light on n-Lorem's mission to serve the ultra-rare disease community.

Dr. Stanley: n-Lorem Foundation is the first and only foundation of its kind with a mission to provide potentially life-saving treatments to patients who have diseases caused by extremely rare diseases -- for free, for life, by coupling advanced genomic diagnostics with antisense oligonucleotides (ASOs) medicines. Patients with ultra-rare mutations (1 to 30 patients worldwide) are often unique, that is the patient maybe the single patient in the world that has that mutation. Thus, personalized treatments for each patient that can only be used in that patient are required. Though each patient is unique, it is now known that millions of such patients exist. These patients typically are desperately ill and often the disease is rapidly progressive. So, the need is urgent and desperate, and we are focused on bringing immediate hope and rapid treatment to these patients.

Tuba: What makes Ultragenyx an ideal partner to collaborate with and ultra-rare disease patients in need?

 Dr. Stanley: Ultragenyx is a premier rare disease company and is exemplary of many companies we hope to collaborate with. Only by establishing a broad network of collaborators and stakeholders can the maximum number of ultra-rare patients be served. Ultragenyx joins Ionis Pharmaceuticals, Biogen, Charles River Labs, Covance by Labcorp, and Korea Institute of Toxicology (KIT) as industry partners supporting our efforts at n-Lorem. We look forward to working with other health care companies in the future. On behalf of the patients we serve, I thank Dr. Emil Kakkis and Ultragenyx for their generous support, and I look forward to working with Emil and his team at Ultragenyx to bring therapies to patients with ultra-rare diseases for free, for life.

Tuba: How does the Foundation work? What is antisense technology?

 Dr. Stanley:  n-Lorem Foundation functions as a bridge between the need, an appropriately characterized patient with an ultra-rare condition, and helps them access the powerful antisense technology that we created at Ionis Pharmaceuticals. We help qualifying patients obtain experimental antisense treatments for free, for life all without burdening families with millions of dollars in medical bills.

 Antisense medicines are small chemically modified pieces of genetic material that are designed using the rules that assure that genes are highly specific. These medicines alter the information storage and utilization processes of the cell, rather than trying to alter the activities of the molecules that do the work of the cell, proteins. Antisense medicines are highly specific, typically very potent, safe, and are very broadly applicable. All of which are necessary attributes to meet the needs of a diverse ray of patients with disease expressed in many organs. 

Learn more about our efforts to create a better future for ultra-rare, one patient at a time. 

Tuba: How do patients get access to the treatment?

 Dr. Stanley:  Patients or parents and research physicians complete an online application for treatment. The first step toward potential treatment is to achieve a diagnosis and full genetic analysis. Patients and physicians can learn more about the process by visiting our website.

Tuba: What motivates you to work in this space? What are the indications being focused under this collaboration?

Dr. Stanley:  My motivation is to help one patient, one family at a time and that is what n-Lorem is focused on.  These patients with ultra-rare mutations are desperately in need of help, and I have led the creation of the powerful, efficient technology that can help them. Once a genetic cause of a disease is known, it is potentially treatable. Therefore, we ask only that the mutation is correctable with our technology. In fact, the vast majority of these patients do not have a named disease or syndrome, so there is no such thing as an indication in the traditional sense of the work.

 Tuba: Share n-Lorem's efforts so far to serve the patients with ultra-rare diseases.

 Dr. Stanley:  While establishing n-Lorem, we helped two investigators create ASOs for 14 patients, we have received nearly 80 applications and have approved about a third (approximately 25) of the applications to receive ASO treatment. We expect to treat at least 5 patients under the n-Lorem guidance by the end of 2021 and more than 20 in 2022.

As exciting as our progress is, we know that we are just beginning and that we face significant challenges, but we are in awe of the extraordinary support we have received and the efforts of the FDA to help meet the needs of these patients and families. We fully expect that the number of applications will increase significantly as more patients and physicians become aware of n-Lorem, and we look forward to helping treat patients with diseases of the eye, lung, liver, and kidney and those with neurological diseases. 

We thank all our donors and collaborators for their support and are confident that many others will join us in this 'call to arms'to bring the immediate hope, rapid treatment, and the power of ASO technology to bear for 'n-of 1'patients in desperate need. 

Learn more about n-Lorem's mission at www.nlorem.org, and please consider giving to n-Lorem to bring hope, possibility, and treatment options to these desperate patients and families. 

Image Source: Pharm-Olam

About Dr. Stanley:

Dr. Stanley T. Crooke is the Founder and Chief Executive Officer and Chairman of the Board in the n-Lorem Foundation.

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