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

Alpha-Mannosidosis | SphinCS - Clinical Science for LSD

Alpha-Mannosidosis

ASMD | SphinCS - Clinical Science for LSD

ASMD

Cystinosis | SphinCS - Clinical Science for LSD

Cystinosis

Fabry Disease | SphinCS - Clinical Science for LSD

Fabry Disease

Gaucher Disease | SphinCS - Clinical Science for LSD

Gaucher Disease

GM1-Gangliosidosis | SphinCS - Clinical Science for LSD

GM1-Gangliosidosis

GM2-Gangliosidosis | SphinCS - Clinical Science for LSD

GM2-Gangliosidosis

Lysosomal acid lipase deficiency | SphinCS - Clinical Science for LSD

Lysosomal acid lipase deficiency

Mucolipidosis Type II and Type III | SphinCS - Clinical Science for LSD

Mucolipidosis Type II and Type III

Mucopolysaccharidosis Type I | SphinCS - Clinical Science for LSD

Mucopolysaccharidosis Type I

Mucopolysaccharidosis Type II | SphinCS - Clinical Science for LSD

Mucopolysaccharidosis Type II

Mucopolysaccharidosis Type III | SphinCS - Clinical Science for LSD

Mucopolysaccharidosis Type III

Mucopolysaccharidosis Type IVA | SphinCS - Clinical Science for LSD

Mucopolysaccharidosis Type IVA

Mucopolysaccharidosis Type IVB | SphinCS - Clinical Science for LSD

Mucopolysaccharidosis Type IVB

Mucopolysaccharidosis Type IX | SphinCS - Clinical Science for LSD

Mucopolysaccharidosis Type IX

Mucopolysaccharidosis Type VI | SphinCS - Clinical Science for LSD

Mucopolysaccharidosis Type VI

Mucopolysaccharidosis Type VII | SphinCS - Clinical Science for LSD

Mucopolysaccharidosis Type VII

Niemann-Pick Type C disease | SphinCS - Clinical Science for LSD

Niemann-Pick Type C disease

Pompe Disease | SphinCS - Clinical Science for LSD

Pompe Disease

Sialidosis & Galactosialidosis | SphinCS - Clinical Science for LSD

Sialidosis & Galactosialidosis

Therapy Options For LSD

Nowadays there are several possibilities of therapy available for the different LSD. For a first overview, we invite you to have a look at the following comic. Just click or tap on the first picture or download the comic as a PDF.

SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten SphinCS - Clinical Sciencce for LSD | Therapiemöglichkeiten

Current Trials

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 inactive

Patient admission closed

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
CARAT_EFC16158
A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of Venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy
Age

18 to 65

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Fabry Disease
PERIDOT_EFC17045
A randomized double-blind, placebo-controlled, 12-month phase 3 study to evaluate the effect of Venglustat on neuropathic and abdominal pain in male and female adults with Fabry disease who are treatment-naive or untreated for at least 6 months
Age

 ≥16 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Fabry Disease
Modify
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 closed

Institution SphinCS GmbH

Drug trial
Gaucher Disease
EFC 17215
Study to evaluate the efficacy and safety of Venglustat in adult and pediatric patients with Gaucher disease Type 3 who have reached therapeutic goals with ERT
Age

≥12 and <18 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Gaucher Disease
Prevail J3Z-MC-OJAE
An Open-label, Dose-Finding, Phase 1/2 Study to Evaluate the Safety and Tolerability of a Single Intravenous Dose of LY3884961 in Patients with Peripheral Manifestations of Gaucher Disease
Age

18-65 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
M. Niemann-Pick Typ C
CTD-TCNPC-301
A Phase 3, Double-blind, Randomized, Placebo-controlled, Parallel-group, Multicenter Study to Evaluate the Safety , Tolerability, and Efficacy of ( 2000 mg/kg) of Trappsol® Cyclo ™(Hydroxypropyl-β-cyclodextrin) and Standard of Care Compared to Placebo and Standard of Care in Patients with Niemann-Pick Disease Type C1
Age

without age restriction

Status active

Patient admission closed

Institution SphinCS GmbH

Drug trial
M. Niemann-Pick Typ C
IB1001-301
Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study
Age

From 4 years ago

Status active

Patient admission closed

Institution SphinCS GmbH

Drug trial
M. Niemann-Pick Typ C
CT-ORZY-NPC-002
Arimoclomol prospective double-blind, randomised, placebo-controlled study in patients diagnosed with Niemann-Pick disease type C
Age

6 - 23 Month

Status active

Patient admission closed

Institution SphinCS GmbH

Drug trial
Pompe Disease
Astellas Pompe AT845
A Study to Evaluate Seroprevalence of Antibodies to AAV8 and Assessment of Biomarkers in Patients with Late-Onset Pompe Disease
Age

16 to 69 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Natural-History-Study
Pompe Disease
Amicus-ATB200-04
An open-label study of the safety, pharmacokinetics, efficacy, pharmacodynamics and immunogenetics of ATB200/AT2221 in pediatric subjects with pompe disease
Age

0 >18 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Pompe Disease
Amicus-ATB200-08
An open-label study to evaluate the safety, pharmacokinetics, efficacy, pharmacodynamics and immunogenetics of cipaglucosidase alfa/miglustat in both ERT experienced and ERT-naive pediatric subjects with infantile-onset pompe disease
Age

0-18 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Mucopolysaccharidosis
DNLI-E-0007
A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants with Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II.
Age

≥ 2 to <26 years

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
Mucopolysaccharidosis
JR-141-GS31
A Phase III study of JR-141 in Mucopolysaccharidosis type II(Hunter Syndrome) patients
Age

from 36 months

Status active

Patient admission recruiting

Institution SphinCS GmbH

Drug trial
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´re looking forward to hear from you

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