MUSC Makes Strides in Sickle Cell Testing with Promising Results

MUSC’s Groundbreaking Sickle Cell Testing Shows Promising Results

In a potentially revolutionary step forward for sickle cell disease treatment, physicians at the Medical University of South Carolina (MUSC) are reporting early success in their ongoing Ruby trial. The Ruby trial utilizes gene therapy as a transformative approach for treating sickle cell disease.

The First Participant’s Journey

23-year-old Olivia Peterson is the first participant of the MUSC Ruby trial. Born with sickle cell disease, Peterson’s life has been significantly impacted by the debilitating and life-threatening condition, often feeling isolated due to the disease’s implications on her social and academic life.

Sickle cell disease has compelled Peterson to undergo multiple surgeries, including the removal of her gallbladder and spleen. In the future, she is projected to undergo a shoulder replacement surgery as well. Plagued by incessant pain and repeated hospital stays, Peterson admitted that there were times when she lost hope.

Currently, bone marrow transplants remain the only definitive cure for sickle cell disease, but the treatment’s success lies heavily on finding a compatible sibling donor. For Peterson, despite having a brother, she could not benefit from the treatment, as her brother was not a suitable match for her.

The Ruby Trial: A New Ray of Hope

With the Ruby trial, physicians adopt a different approach where the patient’s cells are employed, eliminating the need for an external donor. Peterson’s stem cells were collected and altered into healthy red blood cells, which will then be reintroduced into her body.

Barely half-way through her trial since it commenced in December, Peterson has shown remarkable improvement. As part of her treatment regimen, she makes regular visits to the MUSC Shawn Jenkins Children’s Hospital for blood transfusions every three weeks. These measures have helped increase her hemoglobin levels and reduced the frequency of her pain crises, both positive indicators in her journey towards recovery.

Doctors’ Insight

Earleisha Felder, a physician’s assistant and a Sub-Principal Investigator (Sub-PI) for the Ruby trial at MUSC Shawn Jenkins, notes early positive signs in Peterson’s treatment. Felder observed significant differences in Peterson’s pain levels and overall quality of life and is optimistic about the final outcome of the trial.

Leading the MUSC Ruby trial, Dr. Jennifer Jaroscak shares this enthusiasm. Dr. Jaroscak expressed her optimism about gene therapy becoming a viable treatment option for patients with sickle cell disease, following the potential success of the Ruby trial.

Effect of The Trial on Olivia Peterson

For Peterson, the Ruby trial has restored hope for a future free from the relentless pain and constant hospital visits. She shared her painful journey with sickle cell disease and hopes that her participation in the Ruby trial can contribute towards advancing sickle cell disease treatment, offering relief to many others struggling with the disease.

Peterson is currently awaiting the completion of her gene product. Once ready, the next stage of her treatment – chemotherapy and stem cell transplant – are scheduled in the upcoming four months, which will require her to stay hospitalized for four to six weeks.

The Ruby Trial Progress

Recently, the Ruby trial was expanded to include children aged 12 and above – an age drop from the previous eligibility age of 18. With this change, the trial now hosts four participants in total. This expansion marks a significant milestone in making innovative healthcare solutions for sickle cell disease more accessible to younger patients.