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 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.

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.

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