Dr. Jerry Vockley from the UPMC Children’s Hospital of Pittsburgh has been studying the rare disease VLCAD for years. His work has led to the creation of two therapies which treat two of the most dangerous symptoms of the condition. However, there is another symptom that has continued to linger, untreated by the therapies.

Thanks to persistence and collaboration, Dr. Vockley has now published a new study in Clinical & Translational Immunology which outlines a treatment that can aid this last dangerous symptom.

VLCAD

Very long-chain acyl-CoA dehydrogenase or VLCAD is a rare disease caused by a genetic mutation. This mutation stops the enzyme responsible for breaking down fatty acids and converting them to energy.

Patients may face low blood sugar and heart failure when the condition is not treated. However, eating a special diet in addition to taking a therapy called Vockley which can manage symptoms, allows patients to live a better life.

Unfortunately, there was one symptom that continued despite this combination therapy. This symptom is called rhabdomyolysis, which is muscle breakdown.

This ongoing symptom allowed researchers to understand that there has to be another pathway through which this disease is acting, besides the ones already treated by the original two therapies.

Finding The Other Pathway

Dr. Vockley explains that the episodes of rhabdomyolysis, in many ways, looked like an inflammatory muscle disease. However, while inflammatory muscle diseases are consistent, these symptoms come in waves.

Nonetheless, he was convinced there was some sort of inflammatory link. Through blood samples, he uncovered there were high levels of inflammatory markers when the rhabdomyolysis episodes were occurring.

He also consulted with Dr. Vallejo at Pittsburgh’s School of Medicine. Together, their teams closely examined the samples. These samples included both patient samples previously collected by Dr. Vockley and new samples.

One of these new samples was from a 15-year-old girl named Bella Linz who has been facing these episodes incredibly frequently- over a dozen times each year. With each episode leading to a week in the hospital, it has been a long road.

But thankfully, with regular infusions of an anti-inflammatory drug, she went 10 months without hospitalization. Although she has faced the hospital a few times since then, the visits have been much less frequent.

Now, Dr. Vockley’s team is continuing to examine other anti-inflammatory medications which may aid in the treatment of this symptom. These may be able to be used off-label through the compassionate use program.

Through their research, the team has confirmed that there is a cytokine storm occurring with the onset of this symptom. This occurs when immune cells produce inflammatory molecules which attack the body. The inflammatory markers were present when the episodes were not occurring, but not nearly to the same extent.

The next research challenge is understanding why these cytokine storms don’t look exactly like other cytokine storms. The cells aren’t communicating with each other in the same way they typically would.

Nonetheless, the team is clearly on the right path for better understanding this condition and how we may best treat it.

You can read more about this research here.