WHAT ARE LYSOSOMAL STORAGE DISORDERS?

LSD are genetic, hereditary diseases that lead to the lysosomal digestion of the cell no longer functioning. The effects on humans are complex and complicated, sometimes we do not understand the attributions sufficiently.
What we do understand, however, is that unmetabolized substances accumulate in the cell and damage the cell. The cells - and consequently the organs belonging to these cells - that are damaged are very dependent on the substances that are not broken down. 

In M. Pompe, for example, glycogen cannot be metabolized lysosomally in the muscle. Consequently, M. Pompe is a muscle disease.

Glycolipid - a glucosylceramide - is produced during the digestion and renewal of blood cells, especially in the spleen and bone marrow. In M. Gaucher, glucosylceramide is not metabolized. It accumulates in the macrophages of the spleen and bone marrow. Spleen enlargement and infiltration of the bone marrow are the most important findings in Gaucher's disease. 

Further information on diagnostics and our diagnostic service.

Lysomal Storage Disorders

How do I diagnose LSD?

When diagnosing storage disease, four questions must be addressed:

  • Is there evidence of enzyme deficiency or defect in another protein?
  • Which substance is enriched?
  • Which clinical symptoms and findings explain the suspicion?
  • What genetic changes cause the disease?
SphinCS - Clinical Science for LSD | Diagnosing LSD

How can lysosomal diseases be treated?

[Test is machine translated from German language] Treatment not possible, rare, complex, difficult to understand, poor prognosis, ... these are the keywords that have stuck from medical school. But if we summarize current 2020 research, there are already effective and approved therapies and further therapeutic approaches give hope.

Treatment of the central nervous system is a particular challenge that continues to evolve through substrate inhibition and gene therapy
As understanding of what happens in cells and organs in lysosomal diseases improves, basic research continues to develop new targets for therapies

Bone marrow transplantation

In 1983, the first bone marrow transplantation was performed for a lysosomal disease. A boy with MPS 1 was transplanted in London by Dr. Hobbs. It has not been proven that all lysosomal diseases can be treated in this way. It is the severe courses of a few diseases, such as MPS 1 and Farber's disease, for which bone marrow transplantation remains the treatment of choice in 2020. 

Enzyme replacement therapy

In 1991, a murmur went through the medical press. Roscoe Brady and his team at the NIH had treated 12 Gaucher patients in a study with the very enzyme ( glucocerebrosidase ) that is missing in this disease. The enzyme was given via infusions 14 days a week. The disease symptoms spleen enlargement deficiency of platelets and bleeding tendency responded excellently to the therapy. At that time, the enzyme was obtained from placenta, but nowadays it is produced biotechnologically in larger quantities and more safely.

Substrate reduction

The principle of therapy is based on the fact that the substance that cannot be degraded (=substrate) is only produced to a very limited extent. The substrate-building enzyme is inhibited, then the lack of the enzyme that breaks down the substrate is hardly noticeable.

Chaperone therapy

Chaperones bind specifically to misfolded enzymes and stabilize the structure of the enzyme. The type of mutation can be used to determine whether a mutation causes misfolding. Patients with such mutations are eligible for chaperone therapy. 

Gene therapy

Gene therapies cure inherited diseases by introducing a defect-free gene copy. Sounds simple, but it is highly complicated. The introduction is achieved by viral vectors. In particular, successful basic research with the AAV9 vector, which introduces the healthy gene into nerve cells, has led to the development of numerous therapy studies for lysosomal diseases in the last two years. 

A humorous presentation

For a different kind of overview, we invite you to look at the following comic. Just click or tap on the first image or download the comic as a PDF.

Current Trials

ASMD
LTS13632
A long-term study to assess the ongoing safety and efficacy of olipudase alfa in
patients with acid sphingomyelinase deficiency
Age

No information
(participation in previous study required)

Status active

Patient admission closed

Institution SphinCS GmbH

Drug trial
ASMD M. Niemann-Pick Typ C
INPDR-NP registry
International Niemann-Pick Disease Registry – An International Rare Disease Registry for
Niemann-Pick Disease Type A, B or C.
Age

No age limit

Status active

Patient admission recruiting

Institution SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)

Register-Study
ASMD
PIR 16813
A prospective and retrospective cohort study to refine and expand the knowledge on patients with chronic forms of ASMD
Age

No age limit

Status active

Patient admission recruiting

Institution SphinCS GmbH

Natural-History-Study
GM1-Gangliosidosis GM2-Gangliosidosis
Gangliosidosis „8 in 1“
This is a retrospective and prospective and longitudinal, non-interventional study on the natural course of gangliosidoseovers over 5 years
Age

No age limit

Status active

Patient admission recruiting

Institution SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)

Register-Study
Lysosomal Acid Lipase Disease
ALX-LALD Register
An Observational Disease and Clinical Outcomes Registry of Patients with Lysosomal Acid Lipase (LAL) Deficiency
Age

No age limit

Status active

Patient admission recruiting

Institution SphinCS GmbH

Natural-History-Study
Fabry Disease
Modify Idorsia
A multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of Lucerastat oral monotherapy in adult subjects with Fabry Disease
Age

> 18 Years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Gaucher Disease GM1-Gangliosidosis GM2-Gangliosidosis
Retrieve
Natural history study for pediatric parents with early onset of either GM1 gangliosidoses, GM 2 gangliosidoses, or Gaucher disease typ 2
Age

Birthdate after or at 1 of january 2000

Status active

Patient admission recruiting

Institution SphinCS GmbH

Natural-History-Study
The "U.S. National Library of Medicine" provides a complete list of all international studies at www.clinicaltrials.gov. The comparable EU website is less comprehensive: www.clinicaltrialsregister.eu.

We are looking forward to the cooperation

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ASMD
LTS13632
Eine Langzeitstudie zur Beurteilung der Langzeitsicherheit und -
wirksamkeit von Olipudase alfa bei Patienten mit Mangel an saurer Sphingomyelinase
Alter

Keine Angaben
(Teilnahme an Vorgängerstudie erforderlich)

Status Aktiv

Patientenaufnahme abgeschlossen

Institution SphinCS GmbH

Medikamenten-Studie
ASMD
M. Niemann-Pick Typ C
INPDR-NP Register
Internationales Niemann-Pick -Krankheitsregister- Ein internationales Register für die Erkrankungen saurer Sphingomyelinase-Mangel (ASMD oder Morbus Niemann-Pick Typ A oder B) und Morbus Niemann-Pick Typ C
Alter

Keine Alternsbegrenzung

Status Aktiv

Patientenaufnahme rekrutierend

Institution SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)

Register-Studie
ASMD
PIR 16813
Eine prospektive und retrospektive Kohortestudie zur Vertiefung und Erweiterung der Kenntnisse zu Patienten mit chronischen Formen von saurem Sphingomyelinase-Mangel (ASMD)
Alter

Keine Altersbegrenzung

Status Aktiv

Patientenaufnahme rekrutierend

Institution SphinCS GmbH

Natural History-Studie
GM1-Gangliosidose
GM2-Gangliosidose
Gangliosidose „8 in 1“
Es handelt sich um eine retrospektive und prospektive und longitudinale, nicht-interventionelle Studie zum natürlichen Verlauf von Gangliosidosen über 5 Jahre
Alter

Keine Altersbegrenzung

Status Aktiv

Patientenaufnahme rekrutierend

Institution SphinCS Lyso gemeinnützige UG (haftungsbeschränkt)

Register-Studie
LAL-Defizienz
ALX-LALD Register
Ein beobachtendes Register über die Erkrankung und die
klinischen Ergebnisse von Patienten mit Lysosomaler Saurer
Lipase Defizienz (LAL-Mangel)
Alter

Keine Altersbegrenzung

Status Aktiv

Patientenaufnahme rekrutierend

Institution SphinCS GmbH

Natural History-Studie
M. Fabry
Modify Idorsia
Eine multizentrische, doppelblinde, randomisierte, placebo-kontrollierte ParallelgruppenStudie zur Untersuchung der Wirksamkeit und Sicherheit der oralen LucerastatMonotherapie bei erwachsenen Patienten mit Fabry-Krankheit.
Alter

> 18 Jahre

Status Aktiv

Patientenaufnahme rekrutierend

Institution SphinCS GmbH

Medikamenten-Studie
M. Gaucher
GM1-Gangliosidose
GM2-Gangliosidose
Retrieve
Verlaufsstudie mit pädiatrischen Patienten, bei denen ein früher Ausbruch von GM1-Gangliosidose, GM2-Gangliosidose oder Morbus Gaucher Typ 2 vorliegt
Alter

Geburtsdatum am oder nach dem 1. Januar 2000

Status Aktiv

Patientenaufnahme rekrutierend

Institution SphinCS GmbH

Natural History-Studie
The "U.S. National Library of Medicine" provides a complete list of all international studies at www.clinicaltrials.gov. The comparable EU website is less comprehensive: www.clinicaltrialsregister.eu.