Drug Repurposing: Saving Rare Disease Patient Lives


WebMD recently carried a story about a young woman who, after nine years of wheelchair confinement caused by a rare metabolic disease with no name, was able to walk on her own. All thanks to her doctor’s attempt to treat her kidney stones.

Maddie’s Life Changed Forever

Maddie Niles can trace the most severe part of her disability back to the second grade when she was confined to a wheelchair with a nurse in attendance. Maddie depended on a central line for nutrients and liquids.

Her days at school in Woodbridge, VA were infrequent as she was continuously hospitalized with choking, gastrointestinal bleeding, low oxygen levels, and constant fatigue, among other symptoms.

Maddie’s mother described the symptoms as “Whack-a-mole.” Each time the doctors made progress with one symptom, another usually more disturbing symptom popped up. As Maddie grew older, her symptoms and overall condition were beginning to deteriorate.

Then two years ago, simply by chance, one of her doctors prescribed a drug used for the sole purpose of treating her kidney stones. That drug turned her life around. After about one week of taking the new drug, Maddie felt better and had more energy. She had regained much of her previous ability to concentrate.

Maddie’s doctors kept on top of the situation during the following year by observing and changing the dosage. Maddie experienced even more improvement in her condition that year. She could eat almost anything and was able to make it through the day without her oxygen tank. Most notably, after being dependent on a wheelchair for nine years, Maddie was able to walk unaided.

Doctors at the renowned Washington, D.C. Rare Disease Institute took notice. They were intrigued, as to date they have not witnessed signs that this drug could be effective on disorders other than kidney stones. Perhaps it was just an odd occurrence.

Do Other Such Drugs Exist?

The question that captivates Maddie’s doctors is whether there are other drugs that are able to make these dramatic changes but are going unnoticed.

Her story raises a new issue. Developing a drug for a rare disease is not only expensive and most often unprofitable but also time-consuming. Are there other viable treatments just waiting at a local pharmacy?

It is estimated that there are about 10,000 rare diseases with scientists identifying approximately ten to twelve more genetic diseases each week.

Dr. Marshall Summar Director at the Washington, D.C. Rare Disease Institute, commented that this is a new area of medicine. There is no cure for the majority of these disorders and many times they are not even diagnosed.

The government offers incentives such as The Orphan Drug Act but even with this extra help it is difficult to create drugs for a small number of people spread throughout the world. Even with average advances in R & D, the wait for an end date may be as long as 10-15 years with a cost of over $1 billion. Most importantly, many people with a rare disease are not able to wait that long.

Never Give Up

Dr. David Fajgenbaum had a similar experience. Dr. Fajgenbaum was in his third year as a medical student in 2010 when he was diagnosed with Castleman disease, a rare disease often leading to organ failure. The life expectancy for this disease is usually about a year.

Castleman was first identified in the 1950s and yet there is no cure. Dr. Fajgenbaum spent most of the next three years hospitalized with many near-death episodes. During that time the doctor and several researchers continually examined his blood hoping to find an existing drug that could work against the disease. The team discovered an overactive pathway within his immune system and tested a twenty-five-year-old kidney transplant medication, sirolimus, that worked on a few of these pathways.

For the past nine years, his health has been near perfect. Sirolimus (off-label) has since saved the lives of other Castleman patients but unfortunately, it does not work in every case.

The doctor has continued his work at Pennsylvania University where his team has researched nine additional treatments for various forms of Castleman disease. Four of these therapies are being used off-label. The team is also repurposing treatments for other illnesses using drugs already being marketed.

About Machine Learning

Facing thousands of rare diseases without treatments, in September of 2022, Dr. Fajgenbaum decided to join forces with a friend and associate to take advantage of machine learning to connect diseases to existing drugs. They call their association Every Cure. For example, they were able to search through 3,000 FDA-approved drugs and about 12,000 diseases.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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