Amyotrophic Lateral Sclerosis (ALS), also called Lou Gehrig’s disease, is a rapidly progressive and invariably fatal neurological disease. It attacks neurons responsible for controlling voluntary muscles. ALS results in muscle weakness, progressive disability, and eventually death, typically from respiratory failure. Time from onset to mortality is typically short in the range of two to five years. However, ALS is a distinctly heterogeneous disease and the clinical course is variable, with some patients dying within one year from symptom onset and other living for more than a decade.
Muscle weakness results from progressive degeneration of motor neurons in different parts of the central nervous system, where upper and lower neurons selectively die. The cause of damage to the neurons is unknown, but several theories have been proposed, including glutamate toxicity, protein misfolding, and oxidative stress.
Prevalence for ALS
The incidence of ALS is estimated at between 1-3 per 100,000 individuals per year globally. The patient population in the USA and Europe is estimated to be approximately 50,000 patients. In Japan, it is estimated that there are between 8,000-14,000 patients with ALS.
Sporadic Inclusion Body Myositis (sIBM) is an acquired, rare, and slowly progressing muscle disorder which becomes apparent during adulthood. Among individuals older than 50 years it is the most common muscle-wasting disorder. The disease is generally characterized by progressive weakness and degeneration (atrophy) of the muscles, especially those of the arms and legs, particularly in the quadriceps. sIBM typically affects the ability to grab or manipulate objects, causes trouble walking or rising, and can progress to cause severe disability. In addition, difficulty swallowing (dysphagia) due to weakness of throat muscles may occur. sIBM typically presents itself later in life with 87% of patients experiencing onset of symptoms at 50 years of age or more, and earlier symptoms usually only being recognized retrospectively. In most cases, the progression is slow and progresses over the next 10 to 15 years until the affected patient has lost mobility entirely.
Prevalence for sIBM
The size of the patient population in the USA and Europe is not fully elucidated, but a 2017 publication estimated a patient population of approximately 24.8 and 45.6 per million or at least 17,000-31,000 individuals in the USA and the major European countries
Niemann-Pick disease Type C (NPC) is a rare, genetic, and progressive disease that impairs the ability of the body to move cholesterol and other fatty substances (lipids) inside the cells. The result is an accumulation of lipids within the body’s tissue, including the brain tissue, causing damage to the affected areas. The symptoms upon onset of NPC vary from fatality during the first months after birth to a progressive disorder not diagnosed until adulthood. The disease affects neurologic and psychiatric functions as well as various internal organs. NPC is usually fatal and the majority of individuals with the disease die before the age of 20. Adults diagnosed with NPC are more likely to present with dementia or psychiatric symptoms.
Prevalence for NPC
NPC often presents in childhood but can present at any age. The incidence of the disease is estimated to be 1 in 120,000 births and it is estimated that the NPC patient population is between 1,000-2,000 in the USA and Europe.
About Gaucher DISEASE
Gaucher disease is a rare, inherited metabolic disorder causing certain sugar (glucose) containing fat (lipids and especially glycolipids) to abnormally accumulate in the lysosomes of cells, especially within the bone marrow, spleen, and liver, due to the lack of a certain enzyme (glucocerebrosidase). The symptoms vary greatly from patient to patient with some patients having few or no symptoms while others may experience significant complications. The usual symptoms of Gaucher disease include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), and blood cells promoting clotting (thrombocytopenia) and skeletal abnormalities. Like NPC, Gaucher disease is an autosomal recessive disorder.
Prevalence for Gaucher disease
The total number of Gaucher patients in the USA and Europe is conservatively estimated at 10,000-15,000 individuals. Of the total market, Orphazyme focuses on the 10-30% with neuropathic Gaucher disease, where no treatments are available today.