Our CLINICAL PROGRAMMEs

Arimoclomol Programme

    Lysosomal Storage Disease

  • Niemann-Pick Type C

    • Niemann-Pick type C (NPC) is a lysosomal storage disease affecting around 1 in 150,000 newborns and is caused by mutations in the NPC1 or NPC2 genes which are inherited from both parents
    • It is marked by an accumulation of lipid molecules in structures called lysosomes in the cells of internal organs and the central nervous system
    • NPC results in a range of motor and cerebral impairments including progressive loss of muscle control and intellectual capacity
    • NPC diagnosis is usually in childhood, and the prognosis is generally poor: the majority of NPC patients die before the age of 20 and very few live into middle age
    • Currently there is only one approved therapy for NPC, and that has only been approved for use in the EU. It is called miglustat, and it extends life by a few months in a sub-group of patients
    • Based on preclinical experiments indicating that arimoclomol may correct the underlying pathology of NPC we are currently conducting a phase II/III study in children and adolescents suffering with NPC to investigate the effects of arimoclomol on disease progression

    Click here for more information about the trial


  • Gaucher's Disease

    • Gaucher’s disease is a lysosomal storage disease which affects around 1 in 100,00 newborns
    • It is a recessive, autosomal genetic disorder, meaning both parents must be carriers of the mutation to pass on the condition, and is caused by mutations in the GBA gene
    • There are three subtypes, but all are marked by an accumulation of lipid molecules in lysosomes of the cells in a number of different organs around the body, including the spleen, liver and central nervous system (types 2 & 3 only). White blood cells called macrophages are particularly vulnerable to lipid accumulation in Gaucher’s disease
    • There are approved treatments for Gaucher’s disease, including enzyme replacement therapy and substrate reduction therapy, along with symptom management, however these therapies do not address the central nervous system manifestations of the disease
    • Based on encouraging preclinical experiments with arimoclomol we are advancing our pre-clinical Gaucher’s disease programme and aim to advance our clinical programme in the near future

  • Protein Aggregation Disorders

  • SOD1-ALS

    • Amyotrophic lateral sclerosis (sometimes called motor neurone disease or Lou Gehrig’s disease) is a rapidly progressing neurodegenerative disorder
    • Although rare, ALS is the most common neuromuscular disease, affecting around 3-4 in 100,000 individuals from all backgrounds
    • The cause of ALS is not clearly understood, with genetic errors in at least 13 genes implicated in some (but not all) ALS cases – mutations in the SOD1 gene were the first discovered genetic link to ALS, but SOD1 mutations are only found in 1-2% of ALS patients. In fact, up to over 90% of ALS cases are sporadic, meaning there is no family connection to the disease
    • People with ALS are usually diagnosed at age 40-60 and the prognosis is poor, with most patients dying within 3 years of diagnosis. Only ~20% of patients survive for 5 years after diagnosis
    • There is no cure for ALS, and no new treatments have been approved in the EU/US since Riluzole that has a moderate effect on survival was approved in 1995
    • Encouraging results have come from preclinical experiments and in particular from an investigator-led phase II trial into the effects of arimoclomol in SOD1-associated ALS. We are now meeting with regulatory authorities to agree on the next steps for the development of arimoclomol for SOD1-ALS

  • s-IBM

    • Sporadic inclusion body myositis is marked by a progressive atrophy of the muscles, particularly in the legs, arms and neck
    • Approximately 40 in 100,000 people are diagnosed with sIBM, but it is slightly more common in men than women
    • sIBM generally presents in adulthood. Increasing muscle weakness leads to progressive disability and in the more severe cases to death is caused by respiratory or the inability to swallow
    • The pathology involves inclusion bodies inside cells, which are caused by aggregations of a range of different proteins which clump together and cause the cells stress and toxicity
    • Preclinical experiments and a phase II study into the effects of arimoclomol in sIBM has produced encouraging results and we are moving forward with clinical research in this disease


New Molecular Entities