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Friedreich’s ataxia (FA) is a rare degenerative multi-system disorder affecting about one in 40,000 people in the United States. FA is caused by a gene mutation that disrupts the normal production of an important protein called frataxin, that functions in the mitochondria (the energy producing factories) of the cell. Symptoms generally begin in childhood. Patients develop progressive muscle incoordination and weakness, and most develop heart disease, typically hypertrophic cardiomyopathy, as well as arrythmias. FA often leads to shortened lifespan. The majority of FA related deaths are due to heart failure. 

Rare Pediatric Disease Designation (FDA), US Orphan Drug Designation.

Arrhythmogenic right ventricular cardiomyopathy is a genetic heart disease frequently caused by genetic mutations that impair the structure of desmosomes, which connect heart muscle cells, resulting in cardiac cell death, fibrosis, heart dysfunction, rhythm abnormalities, and sudden death. The US prevalence of ARVC is estimated at 1:2000-1:5000 people. More than 40% of ARVC patients die or have heart transplantation within 10 years of diagnosis.

Arrhythmogenic right ventricular cardiomyopathy is a genetic heart disease frequently caused by genetic mutations that impair the structure of desmosomes, which connect heart muscle cells, resulting in cardiac cell death, fibrosis, heart dysfunction, rhythm abnormalities, and sudden death. The US prevalence of ARVC is estimated at 1:2000-1:5000 people. More than 40% of ARVC patients die or have heart transplantation within 10 years of diagnosis.

Hypertrophic cardiomyopathy (HCM) is one of the most common forms of genetic cardiomyopathy and is caused by mutations that affect the cardiac sarcomere in approximately 75% of cases. It is inherited as an autosomal dominant trait, with over 500,000 patients in the United States alone who have a genetic form of HCM.

Alzheimer’s is a progressive neurodegenerative disorder that is the leading cause of cognitive decline in late adult life. It is associated with anormal build-up of proteins in and around brain cells. The common apolipoprotein (APOE) alleles (E4, E3, E2) are the major genetic risk factors for Alzheimer’s disease (AD) with the E4 allele recognized as the strongest risk factor for AD development at an earlier age. APOE4 homozygous (APOE4/4) carriers are approximately 15 times more likely to develop Alzheimer’s than the general population. It is estimated that there were 6.2 million patients living with Alzheimer’s disease in 2021 in the United States alone. Aging of the population is expected to significantly increase the socioeconomic burden of this disease in the coming decades.

Fast Track Designation (FDA).

Alzheimer’s is a progressive neurodegenerative disorder that is the leading cause of cognitive decline in late adult life. It is associated with anormal build-up of proteins in and around brain cells. The common apolipoprotein (APOE) alleles (E4, E3, E2) are the major genetic risk factors for Alzheimer’s disease (AD) with the E4 allele recognized as the strongest risk factor for AD development at an earlier age. APOE4 homozygous (APOE4/4) carriers are approximately 15 times more likely to develop Alzheimer’s than the general population. It is estimated that there were 6.2 million patients living with Alzheimer’s disease in 2021 in the United States alone. Aging of the population is expected to significantly increase the socioeconomic burden of this disease in the coming decades.

Alzheimer’s is a progressive neurodegenerative disorder that is the leading cause of cognitive decline in late adult life. It is associated with anormal build-up of proteins in and around brain cells. The common apolipoprotein (APOE) alleles (E4, E3, E2) are the major genetic risk factors for Alzheimer’s disease (AD) with the E4 allele recognized as the strongest risk factor for AD development at an earlier age. APOE4 homozygous (APOE4/4) carriers are approximately 15 times more likely to develop Alzheimer’s than the general population. It is estimated that there were 6.2 million patients living with Alzheimer’s disease in 2021 in the United States alone. Aging of the population is expected to significantly increase the socioeconomic burden of this disease in the coming decades.

Batten disease is the common name for a broad class of rare, fatal, inherited disorders of the nervous system also known as neuronal ceroid lipofuscinoses. CLN2 Batten disease is caused by a defect in the CLN2 gene responsible for producing the protein TPP1, which breaks down proteins in the lysosomes of neurons. Developmental delay begins around the end of age two and children progressively lose motor and cognitive function, become unable to communicate and develop seizures and blindness. Most children with CLN2 Batten disease die between the ages of six and twelve.

Rare Pediatric Disease Designation (FDA), US Orphan Drug Designation.