When the enzymes are simply missing - The LAL-D deficiency.

Rare Disease Day 2021 is coming up – we, SKC, want to do our part to generate more awareness for these diseases. This time for the LAL-Deficiency.

Mon, 2021 / 02 / 22

As part of the Rare Disease Day 2021 blog series, we would like to take you on a journey through the world of rare diseases and show you, through six examples, how terrible the life of patients can be, suffering from a disease that often cannot even be properly diagnosed. In addition to exemplary courses of the disease, we will show you where new therapies already exist, but where they also reach their limits. At the end, we will come back to the subject who should always be in focus: The patient.

The first part is about a group of diseases that does not even seem to have an own name: LAL Deficiency (LAL-D). LAL stands for Lysosomal Acid Lipase, an enzyme responsible for breaking down fats in the lysosome. In the absence of this enzyme, fats can no longer be processed. The result is storage in various organs, such as the liver or spleen, which eventually leads to severe organ damage and organ failure. The disease is one of the rare diseases, with a prevalence of 1 to 9 in 100,000 patients (1), which further complicates diagnosis and explains the low awareness of this disease among both physicians and the general population. The most severe form in particular, Wolman disease, is often diagnosed in infancy and is fatal in these young patients. If left untreated, they often die in the first year of life (2). This disease is so rare that no self-help group exists to enable affected individuals and patients to share their experiences.

Until a few years ago, no drug treatment alternative existed for this disease, the only way to save the patients was a stem cell transplantation, which was mandatory especially for Wolman's disease (2)). This changed with the launch of Alexion's enzyme replacement therapy Kanuma®. With this, a first therapy is now available, which can ensure the survival of patients and stop the rapid progression. Due to the genetic cause, which is not yet directly treatable, this drug must be administered for the rest of the patient's life. The therapy regime is administered as an intravenous infusion with a duration of approximately two hours. For children and adults at least once every two weeks, for infants younger than six months weekly. An underestimated but nevertheless significant aspect is that patients must see their doctor regularly. And this does not mean the family doctor in the vicinity, but a specialist, of which there are only a handful in Germany.

The development of a therapy to treat the disease in this indication once again demonstrates the great importance of clinical research, but also makes it clear that the patient and his or her suffering must not be ignored when evaluating new drugs. After all, the development of a drug therapy is usually only one of several steps to achieve the goal of medicine and all related disciplines: Improving the reality of care for the patient.

Further information can be found here:

(1) General information about the disease can be found on the Orphanet site.

(2) The National Association of Statutory Health Insurance Physicians also provides some information. The focus here is on the treatment of the disease.

(3) On the Alexion website, you can access the current Kanuma specialist information. Here, risk information is provided, and the course of therapy is described.

Author: Sebastian Marben, M.Sc.