To celebrate Rare Disease Day and raise awareness for approximately seven thousand rare diseases, Dr. Francis Collins, director of the National Institutes of Health, recently interviewed a person he described as being able to give a unique and personal perspective on rare diseases.
David Fajgenbaum is a doctor, immunologist, researcher, patient, and rare disease advocate. He has recently authored a book called Chasing My Cure about having a rare disease called idiopathic multicentric Castleman disease (iMCD). Fajgenbaum, now 34, became ill in 2010 and his doctors did not expect him to survive. Chemotherapy saved his life, but while in remission he experienced four separate near death emergencies.
Fajgenbaum explained that after one of those experiences he decided to dedicate his life to iMCD research. He not only co-founded the Castleman Disease Collaborative Network, but also identified a cellular pathway in his research.
This particular pathway, called mTOR, was active in his disease samples. He proceeded to test an mTOR inhibitor on himself. It had been developed over thirty years ago and was approved for kidney transplantation. It had never even been considered for iMCD.
The drug, mTOR, has thus far successfully kept Fajgenbaum in remission for ‘73.83 months’. This is his personalized way of counting the days in remission, but he doesn’t know how long it will last.
During that time, he married and had a daughter, assisted in the launching of the Penn Center that specializes in rare disease, and wrote a book sharing his personal account of living with his iMCD.
Fajgenbaum admits he never thought he would live this long. He wants to survive not only for his family but for his colleagues who have worked not only for him but for the other iMCD patients.
When asked by Dr. Collins what he has learned from his experience with the disease, Fajgenbaum mentioned three lessons.
First, he explained that traditionally researchers are working within a particular rare disease field in their search for research funding. A panel then selects what they consider to be the best applicant to support.
But now there is a new approach called the Collaborative Network Approach. This is a broad approach involving the community of physicians, researchers and patients. Then the best researchers in the world are recruited to perform the studies, not just researchers from one disease field.
The second lesson is the importance of getting everyone involved. That means patient advocacy groups, researchers, physicians, patients, biopharma, and FDA.
Thirdly, Fajgenbaum reminds us that he is alive today thanks to a drug that was not even developed for his disease. He also reminds us that there are less than five percent of the seven thousand rare diseases with an approved FDA therapy.
With this in mind, he explains that many of the rare diseases have similar genetic and cellular defects. That could mean that there may be approved drugs that may be equally effective on diseases with matching defects. This is called drug repurposing.
About iMCD
Fajgenbaum describes iMCD as somewhere between a deadly autoimmune disease and cancer. Symptoms and abnormalities are similar to some lymphomas but also to autoimmune diseases. The cause is unknown (idiopathic).
It is very important to diagnose the disease as either MCD or iMCD as the treatments and prognoses are not the same. A biopsy is highly recommended because the symptoms vary between subtypes and between patients.
Complete or partial suppression of the immune system (immunosuppression) is the primary risk factor for HHV-8 associated iMCD.
About Clinical Trials.
Two clinical trials, one in the USA and another in China, are currently open to patients diagnosed with Castleman disease.
When asked by Dr. Collins to speak about future plans in his capacity as a researcher and advocate Fajgenbaum initially spoke about funding.
He said that their network invested $1.5 million in Castleman research. This, he explained, led to $7 million in additional funding.
The network also developed treatment guidelines and diagnostic criteria. There is a need for improved treatment for all types of Castleman disease.
Check out the original story here.
