Cooperative research for new Hope

Cooperative research for new Hope


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.

SphinCS - Clinical Science for LSD | SphinCS - Clinical Science for LSD | Hochheim

For you as a patient

  • we offer the opportunity to participate in the latest drug trials.
  • we offer access to clinical trials and the latest scientific information.
  • we offer time and care.
  • we provide close cooperation with patient care facilities.
  • we promote your active role in clinical trials (patient reported outcome).

Current Studies

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.

SphinCS - Clinical Science for LSD | Current Studies

Lysosomal Storage Disorders

The Dwarf Pony

Mucopolysaccharidosis Type IVB

In mucopolysaccharidosis type IVA (MPS IVA, Morquio disease A, deficiency of the enzyme Acetylgalactosamine-6-Sulfatase) and type IVB (MPS IVB, Morquio disease B, deficiency of Beta-Galactosidase) predominantly the skeletal system is affected: Severe deformities of the spine, thorax and extremities result in disproportionate short stature, in severe cases the final height is about 120 cm. However, patients with a normal height have been described, too. Further characteristic features include joint laxity, instability oft the cranio-cervical junction, leading to paraplegia, corneal clouding and hearing problems. The intelligence is normal.

Mucopolysaccharidosis Type IVB | SphinCS - Clinical Science for LSD

What are Lysosomal Storage Disorders?

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.

SphinCS - Clinical Science for LSD | LSD

Looking forward to hear from you

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