Our goal is to advance clinical research on rare diseases and to develop a therapy for previously untreatable lysosomal storage diseases (LSD). At the same time, we are committed to the health concerns of affected patients.
We do this by providing the scientific and medical community with insights into LSDs and by helping to develop innovative therapies. Our patients are valuable players and partners in this process. We work with a personal approach and in an atmosphere of trust.
Clinical research for lysosomal diseases is fortunately receiving more and more attention. We would like to help you stay up to date and inform you accordingly about studies currently taking place.
An overview of the current therapy concepts with gene therapy, haematopoietic stem cell transplantation (bone marrow transplantation), enzyme replacement therapy, substrate reduction therapy and chaperone therapy is scientifically presented in the article "Precision Medicine for Lysosomal Disorders" (Jul 26 2020). Furthermore, we have tried to illustrate the topic of therapy concepts for lysosomal diseases in a comic.
In Niemann-Pick disease type C, a defect in the NPC1 gene (approximately 95% of cases) or in the NPC2 gene (approx. 5% of cases) leads to impaired intracellular cholesterol trafficking and consecutive to accumulation of unesterified cholesterol in the cells of various organs. The age of manifestation extends from the perinatal period to late adulthood. Clinical symptoms are very heterogeneous. In addition to visceral signs – consisting of a splenomegaly or hepatosplenomegaly – neurological symptoms, such as progressive cerebellar ataxia, dysarthria, vertical supranuclear gaze palsy, epilepsy, cataplexy and progressive dementia are characteristic. For the treatment of progressive neurological symptoms, substrate reduction therapy with miglustat is currently available.
Lysosomal Storage Disorders (LSD) are a group of more than 50 rare inherited metabolic diseases. The diseases are characterised by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies.
Lysosomal storage diseases affect the lysosome; a structure in the cells that breaks down substances such as proteins, carbohydrates, and old cell parts so the body can recycle them. As a result, different parts of the body may be affected, including the: skeleton, brain, skin, heart, and central nervous system. New lysosomal storage disorders continue to be identified.
