We want to empower you and anyone else affected by Niemann-Pick disease, so that you may become effective advocates for your own health (or that of your loved one). Naturally this requires that you have adequate information, an understanding of Niemann-Pick disease, and comprehension of all of the associated health conditions that come with it. With this in mind we want to strive to provide everyone with information in a format they can easily access – as we are aware of the challenges that can surround clinical trials. Our goal then, with regards to you and clinical trials, is to promote informed decision-making: this way you always fully comprehend what is going on every step of the way, and will therefore have a strong confident voice going forward.
You can find information regarding current trials on ClinicalTrials.gov. This includes clinical sites, inclusion criteria, protocols etc. For your own convenience trial numbers are listed below alongside the relevant company name(s), simply input these numbers in the search bar to learn more about each respective trial. Company websites can be accessed by clicking the company name, and a summary of current Clinical Trials is shown below against each Pharmaceutical Company.
Sanofi Genzyme is the specialty care global business unit of Sanofi, focused on rare diseases, multiple sclerosis, immunology, and oncology. They help people with debilitating and complex conditions that are often difficult to diagnose and treat.
(1) Purpose of Clinical Trial (NCT02004704)
The primary objective of this study is to obtain data regarding the safety of olipudase alfa in patients with acid sphingomyelinase deficiency (ASMD) who are exposed to long term treatment with olipudase alfa.
The secondary objectives of this study are to obtain data regarding the efficacy of olipudase alfa and to characterize olipudase alfa pharmacodynamics (PD) and pharmacokinetics (PK) following long-term administration.
Clinicaltrials.gov identifier: NCT02004704 (A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency)
(2) Purpose of Clinical Trial (NCT02004691)
The primary objective of this phase 2/3 study is to evaluate the efficacy of olipudase alfa (recombinant human acid sphingomyelinase) administered intravenously once every 2 weeks for 52 weeks in adult patients with acid sphingomyelinase deficiency (ASMD) by assessing changes in 1) spleen volume as measured by abdominal magnetic resonance imaging (MRI) (and, for the United States [US] only, in association with patient perception related to spleen volume as measured by splenomegaly related score (SRS)); and 2) infiltrative lung disease as measured by the pulmonary function test, diffusing capacity of the lung for carbon monoxide (DLCO).
For the most recent announcement from Sanofi Genzyme, please click here.
Actelion Pharmaceuticals Ltd is a biopharmaceutical company headquartered in Switzerland. Actelion focuses on the discovery, development and commercialisation of innovative treatments to serve high unmet medical needs.
Zavesca© (Miglustat), developed by Actelion Pharmaceuticals, received approval in 2009 for the treatment of NP-C in the European Union and in many other countries across the world. Zavesca© was the first, and is currently the only, licensed treatment available for people with NP-C1. It is licensed for the treatment of progressive neurological manifestations in adult patients and paediatric patients.
Actelion Pharmaceuticals Ltd continue to support research into NP-C and they have developed the ‘NP-C Info’ website, which provides access to comprehensive information about the symptoms, diagnosis and management of Niemann-Pick type C disease, for both patients and healthcare professionals: http://www.niemann-pick-c.com/
Currently no active NPC clinical trials.
The mission of CTD Holdings Inc. is to develop, manufacture, and distribute cyclodextrin-based high value products. Their products treat disease, improve quality of life, and provide solutions in a broad range of applications including pharmaceutical formulation, medical diagnostics, cosmetics, nutraceuticals, and nutrition.
(1) Purpose of Clinical Trial (NCT0291279)
This research study is being conducted to find out whether Trappsol® Cyclo™, an experimental treatment for people with Niemann-Pick disease Type C1 (NPC-1) is safe at 3 different dose levels and what effects it has on people who have this condition. NPC-1 is caused by a defect in a protein which is important for the transport of fatty substances like cholesterol out of cells. Without this protein, fats build up in the cells ultimately leading to organ damage. The way in which this experimental treatment works is not fully understood but laboratory experiments have shown that it can potentially remove cholesterol build up from the cells in people who have NPC-1
Clinicaltrials.gov identifier: 3 (Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1);
(2) Purpose of Clinical Trial (NCT02939547)
This research study is being conducted to find out whether Trappsol® Cyclo™, an experimental treatment for people with Niemann Pick disease Type C (NPC-1) is safe at 2 different dose levels and what effects it has on people who have this condition. NPC-1 is caused by a defect in the protein which is important for the transport of fatty substances like cholesterol out of cells. Without this protein, fats build up in the cells ultimately leading to organ damage
Clinicaltrials.gov identifier: CT02939547 (Study of the Pharmacokinetics of Trappsol and Effects on Potential Biomarkers of Niemann-Pick C1 (NPC1)).
For the most recent announcement from CTD Holdings, please click here.
Galyatech are different to other companies in that their single focus is to develop effective treatments for NP-C. Working with researchers at the University of Pennsylvania (UPenn), Galyatech are moving forward with the preclinical studies necessary to support a Phase I clinical trial starting with GALYA-1, Gene Therapy for Niemann-Pick type C.
Currently no active NPC clinical trials.
Orphazyme are dedicated to the development of paradigm-changing medicines to improve the lives of patients affected by diseases of protein misfolding. They are harnessing the power of heat shock protein therapy, and strive to bring together our expert knowledge and world-class meticulous research, to delay or halt disease progression and improve patient lives.
Purpose of Clinical Trial (NCT02612129)
A prospective, randomised, double-blind, placebo controlled therapeutic study in patients with confirmed diagnosis of NiemannPick disease type C (NPC). The purpose of this study is to assess the efficacy and safety of arimoclomol (compared to placebo) when it is administered as an add-on therapy to the patient’s current prescribed best standard of care; patient’s standard of care may, or may not, include miglustat.
Clinicaltrials.gov identifier: NCT02612129 (Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C).
For the most recent announcement from Orphazyme, please click here.
Perlara is a scientific discovery Public Benefit Corporation that works with patients like me and drug companies to find treatments for diseases previously believed to be too rare to cure. They are a diverse team with expertise in genetics, pharmacology, cell biology, data science and automation. We share an enthusiasm for scientific discovery and a commitment to transparency and engagement.
Currently no active NPC clinical trials. For the most recent announcement from Perlara, please click here.
Vtesse, Inc. is a rare disease company dedicated to developing drugs for the unmet medical needs of patients suffering from severe and life-threatening diseases. Vtesse is the first spin-out company from Cydan Development, Inc., an orphan-drug accelerator that identifies and de-risks programs with therapeutic and commercial potential.
Purpose of Clinical Trial (NCT02534844)
This study evaluates the efficacy and safety of 2-hydroxypropyl-β-cyclodextrin (VTS-270) in patients with neurologic manifestations of Niemann-Pick Type C1 (NPC1) Disease. Approximately two-thirds of patients will receive the study drug, 2-hydroxypropyl-β-cyclodextrin (HP-β-CD), while the remaining study participants will receive sham control.
Clinicaltrials.gov identifier: NCT02534844 (Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease).
For the most recent announcement from Vtesse/Sucampo, please click here.
Kim Stratton, Chief Executive Officer at Orphazyme, commented, “We are delighted with FDA’s decision to grant Breakthrough Therapy Designation to arimoclomol for NPC. Arimoclomol has been shown to have a clinically meaningful effect on disease progression in NPC that is further supported by a biomarker effect indicating an effect on the biological underpinnings of the disease and a favorable safety and tolerability profile. We are committed to bringing this product to patients as soon as possible. Breakthrough Therapy Designation is designed to expedite the development and review of products for serious diseases with the direct involvement of senior staff and we look forward to working closely with the FDA to further advance arimoclomol. Our preparations for filing in the US are underway and we are on track to submit a New Drug Application in H1 2020.”Read more