Studies

Should you participate in a clinical trial?

The doctors who are now treating you are probably the best people to talk to for answering this question. They are obligated to give full information about the trial and also explain the possibilities for treatment options outside of the trial.

To help you in your personal decision for or against participation, we offer you a downloadable brochure. The brochure answers most of the questions you might have about the trials. It explains what studies are, how they are planned and conducted. It describes the opportunities and risks generally associated with participation. It tells you what your rights as a participant are and what the doctors who are supervising the trial are obligated to do.

More information about clinical studies, offers "vfa. - Die forschenden Pharmaunternehmen" in its brochure. (Brochure only avaiable in german language).

Current Studies

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
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
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.

Information on current therapies

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 following article:

Pinto, E. Vairo F., D. Rojas Malaga, F. Kubaski, C. Fischinger Moura de Souza, F. de Oliveira Poswar, G. Baldo, and R. Giugliani. "Precision Medicine for Lysosomal Disorders" Biomolecules 10, no. 8 https://dx.doi.org/10.3390/biom10081110 (Jul 26 2020).

We have illustrated the topic of therapeutic concepts for lysosomal diseases in a comic strip in which we try to explain what is not working in the cell and, more importantly, how it could be fixed.