International Niemann–Pick Disease Alliance

Clinical Trials and Therapeutic Development

Clinical Trials and Therapeutic Development:

Information on current trials is listed on 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.


ASMD Niemann-Pick type B:

Sanofi Genzyme:

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. identifier: NCT02004704 (A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency); NCT02004691 (Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency). For the most recent announcement from Sanofi Genzyme, please click here. 


Niemann-Pick type C:

Actelion Pharmaceuticals Ltd:

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:

Currently no active NPC clinical trials. 

Aparito – Wearable Technology:

In partnership with patient organisations such as Niemann-Pick UK, hospitals and research institutions across the world, Aparito has developed wearable technology and disease-specific mobile apps that provide remote patient monitoring outside of the hospital environment, collecting meaningful patient data that aims to improve well-being and enhance diagnosis, treatment and drug development. A wearable device captures functional data from the patient relating to their ambulation. This data is transmitted to a parent or carer’s phone via Bluetooth. Functional data is transmitted to the central web app via a secure connection along with additional data input through the patient/carer app.Clinicians can monitor the patient’s progress. The system can send notifications and reminders to user’s app to prompt data input. Health care usage can be recorded in the Visits function; i.e. the date, time, whether the visit was planned or an emergency, and the type of health care professional seen. Complete Patient (Parent) Reported Outcome questionnaires are included in the app. These are in bite-sized pieces, easy to complete by just clicking on a multiple choice answer, and don’t require a hospital visit.

Patients can keep a simple diary of medications taken – they simply click yes or no to confirm taken or missed doses using the inbuilt schedule and can add extra doses and new medications as and when required. In addition, events such as falls, seizures, and missed days of schools can be recorded in real time with just a few clicks, so there is no need to rely on memory to recall event details weeks later in the doctor’s office. Aparito has so far initiated five studies, in four different diseases, across three countries. Learn more about Aparito’s approach at their website. 

For a patient’s perspective on this amazing technology, please click here.

CTD Holdings:

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. identifier: NCT02912793 (Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1); NCT02939547 (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. 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. 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. 

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