Our Research

We are focused on understanding the cell-protective properties of heat shock proteins (HSPs) and translating this science to create a novel treatment for rare neurodegenerative diseases.

ARIMOCLOMOL: Pipeline-in-a-Product Potential

Scroll over the pipeline chart to read more about each disease area.
DESIGNATIONS
STAGE OF DEVELOPMENT
ANTICIPATED MILESTONES
Orphan Drug
Fast Track
BTD**
PC
Ph1
Ph2
Ph3
Filed
Anticipated Milestones
Niemann-Pick disease type C*

DESIGNATIONS

Orphan Drug
Fast Track
BTD**
Orpha Drug
Orpha Drug
Orpha Drug
STAGE OF DEVELOPMENT
PC
Ph1
Ph2
Ph3
Filed
Ph 2/3 (data reported)
ANTICIPATED MILESTONES

U.S. FDA accepted New Drug Application (NDA) for review; Submitted MAA (EU) 2020

Niemann-Pick disease type C (NPC) is a rare progressive neurodegenerative disease. It belongs to the family of lysosomal storage diseases. Niemann-Pick disease type C can be difficult to recognize, which leads to diagnostic delays. There are no approved treatments in the United States for Niemann-Pick disease type C.
Gaucher disease***

DESIGNATIONS

None

Orphan Drug
Fast Track
BTD**
STAGE OF DEVELOPMENT
PC
Ph1
Ph2
Ph3
Filed
Ph 2 (top-line
data reported)
ANTICIPATED MILESTONES

Gaucher disease is a rare, inherited lysosomal storage disorder causing certain sugar-containing fats to abnormally accumulate in the lysosomes of cells, especially within cells of the blood system and nerve cells, thereby affecting organs such as the brain, bone marrow, spleen, and liver. The typical systemic symptoms of Gaucher disease, which can appear at any age, include an abnormally enlarged liver and/or spleen and low levels of circulating red blood cells and platelets. Currently no treatments are available that can cross the blood brain barrier to help reduce neurological symptoms.
Amyotrophic lateral sclerosis

DESIGNATIONS

Orphan Drug
Fast Track
BTD**
Orpha Drug
Orpha Drug
STAGE OF DEVELOPMENT
PC
Ph1
Ph2
Ph3
Filed
Ph 3 (registrational)
ANTICIPATED MILESTONES

Top-line results
H1 2021

Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurological disease. ALS attacks neurons responsible for controlling voluntary muscles—resulting in muscle weakness in limbs—and impacts speaking, chewing, swallowing, and breathing, leading to progressive disability and eventually death—typically from respiratory failure and aspiration pneumonia. Currently, there are limited treatment options available.
Inclusion body myositis

DESIGNATIONS

Orphan Drug
Fast Track
BTD**
Orpha Drug
Orpha Drug
STAGE OF DEVELOPMENT
PC
Ph1
Ph2
Ph3
Filed
Ph 2/3 (registrational)
ANTICIPATED MILESTONES

Top-line results reported on March 29, 2021; did not meet primary and secondary endpoints in IBM

Inclusion body myositis (IBM) is a progressively debilitating muscle-wasting disease. IBM is characterized by a build-up of protein aggregates and atrophy of muscle cells, which leads to weakness and over time severe disability. There are no approved treatments for IBM.
*Early-access program is underway at multiple sites; **Breakthrough Therapy Designation (BTD);
***Type 1 and Type 3 Gaucher disease.
Rare pediatric disease designation

Our development program covers two types of disease:

LYSOSOMAL STORAGE DISEASES (LSDS) are inherited metabolic disorders in which enzyme deficiencies result in an accumulation of toxic materials in the cells of the body. These deficiencies are often caused by mutations leading to premature misfolding and degradation of the enzymes. In both NPC and Gaucher disease, as well as other LSDs, mutations lead to misfolding and loss of enzyme functions involved in the breakdown and recycling of critical cellular components within the cells recycling centers, the lysosomes. Our research in LSDs focuses on the natural cellular machinery that helps proteins to remain folded in their active state. In particular, we are evaluating HSP family members called HSP70. By amplifying the production of HSPs, this pathological cascade can be addressed by rescuing the function of the recycling enzymes and helping them perform better in the lysosomes.


The U.S. Food and Drug Administration (FDA) has accepted our new drug application (NDA) for arimoclomol for the treatment of NPC and designated it for priority review, with a target action date of June 17, 2021 under the Prescription Drug User Fee Act (PDUFA). We submitted a marketing authorization application to the European Medicines Agency (EMA) for NPC in November 2020.

In a Phase 2 study in neurological Gaucher disease Type 1 and Type 3, arimoclomol demonstrated marked improvements in key clinical markers including liver and spleen size.

NEUROMUSCULAR DISEASES may occur as a consequence of protein misfolding, which is a hallmark of many neurodegenerative diseases. Two neuromuscular diseases – Inclusion Body Myositis (IBM) and Amyotrophic Lateral Sclerosis (ALS) – are debilitating rare diseases with limited or no current treatments. Amplifying the production of HSPs may help restore balance, repair the dysfunctional protein processing and clear protein aggregation.


The Company reported topline results from the Phase 2/3 trial in IBM on March 29, 2021 - arimoclomol did not meet the primary and secondary endpoints in the Phase 2/3 trial in IBM. Additional analyses are being performed and the Company expects to present further information at a medical meeting. Topline results in ALS are anticipated in H1 2021.

Clinical Trials

We are researching arimoclomol in four indications: Amyotrophic Lateral Sclerosis (ALS), Gaucher disease, Niemann-Pick disease type C (NPC), and Inclusion Body Myositis (IBM).

To learn more about our clinical trials go to https://www.clinicaltrials.gov/

Early Access Program

Orphazyme has an Early-Access Program (EAP) in the United States, France and Germany for people living with Niemann-Pick disease type C (NPC). EAPs are sometimes referred to as Expanded Access Programs, compassionate use or similar locally defined pre-approval access programs. We expect the EAP to remain open until the investigational treatment arimoclomol becomes commercially available in these markets.

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