Putting Rare Diseases Patients First!(R) has received a modest grant from Pfizer, to provide an educational program (Webinar 010), to patients with Sickle Cell Anemia, and the Parents of children with Sickle Cell Anemia. We are particularly excited about this program, and opportunity, because Sickle Cell Anemia is a complex disease, that now has an opportunity for transformative change in how the disease is treated, and potentially even cured. We believe that technologies such as Gene Therapy and CRISPR are going to change the treatment of Sickle Cell Anemia for many years to come.
Like many complex rare diseases, Sickle Cell Anemia treatment involves the treatment of the symptoms of the disease. While the patient’s condition is managed as effectively as possible by physicians, the disease often continues on its course, causing damage to multiple organs within the patient’s body. Early diagnosis at the neonatal stage is crucial so that the necessary interventions can start as soon as possible. Imagine the fear and emotional pain of the diagnosis of Sickle Cell Anemia in a baby or toddler, especially if a member of the family, or even one of the parents is already dealing with Sickle Cell Disease.
During Webinar 010 our goal is to provide the latest information on the newest treatments. We believe this Webinar will help to provide hope, as well as provide instruction on the steps to take to find out more about the latest experimental approaches, as well as the approved treatments.
Established treatments such as Hydroxyurea have been supplemented by newer treatments (monoclonal antibodies). The goal of these and other treatments is to manage the symptoms. Hydroxyurea seeks to promote the development of Fetal Hemoglobin. This can help to reduce the number of crises that a patient will experience, caused by sickling of the red blood cells. Other treatments seek to treat the symptoms of Sickle Cell Anemia, such as pain, infections, anemia, etc.
Current Treatments include:
- Blood transfusions – increases number of normal Red Blood Cells in the patient’s bloodstream.
- Stem cell transplantation/ Bone Marrow Transplant- – can be curative
- Hydroxyurea (Droxia, Hydrea, Siklos)) – increases amount of fetal Hemaglobin in the Blood
- L-glutamine (Endari) – reduces number of pain crises
- Crizanlizumab (Adakveo) – reduces number of pain crises
- Pain relieving medications
- Voxelotor (Oxbryta) — improves anemia
The New Frontier
Pharmaceutical companies and biotechnology companies, are to be applauded for their efforts. However, if patients could think out of the box, I am sure many of them, if not all of them, would ask pharma and biotech companies to develop treatments that cure their underlying disease. Think about it…. If the underlying genetic cause of the disease could be addressed, their disease would be cured, and the daily grind of taking medications, receiving blood transfusions, and going through excruciating pain would no longer be necessary.
On May 20, 2020, Webinar 010 will examine the new treatments (Gene Therapy and CRISPR). These treatments are already being used in some patients with severe disease to change the disease status of the patients who are receiving the approaches. These are still experimental treatments and so caution is necessary. The approaches may be administered as part of clinical trials, or on a compassionate use basis. During Webinar 010 we will examine the types of clinical trial designs that can help us to determine if the approaches are working in the patient populations studied.
We want to hear from you about what your concerns are for your disease, or your child’s disease. The Webinar will be promoted to a global audience in many countries. Spread the word. The landing page is found at www.puttingrarediseasespatientsfirst.org/sicklecell. The Flyers found on the landing page can be downloaded, handed out, and sent electronically to friends and family.
Lorna Speid, Ph.D.
Founder and President