Sanfilippo syndrome, otherwise known as Mucopolysaccharidosis (MPS) III, is a group of four genetic diseases, referred as: MPS IIIA, MPS IIIB, MPS IIIC or MPS IIID, that are among 60 known lysosomal storage disorders. Children with MPS III are missing the enzyme needed to break down used mucopolysaccharides (long chains of sugar molecules); specifically, heparan sulfate (HS).
With the missing enzyme, cells within the body are not functioning properly and are not able to fully break down and replace HS, a material which is necessary for building connective tissues.
The partially broken down HS remains stored in cells of the body causing progressive damage. Infants and even toddlers may not show signs of the disease, but as more cells are damaged throughout the body, symptoms gradually appear. Children begin to show neurological and physical decline.
Some examples might include: speech, walking, eating, difficult behavior and sleep issues. This regression continues to full loss of speech, ability to feed oneself, and eventually the ability to transition and walk independently, leading to a severely shortened lifespan.
The combined incidence of Sanfilippo is estimated to be 1 in 70,000 births. To date, there is no cure and treatments are supportive in nature.
Our products, ABO-101 and ABO-102, are clinical stage one time intravenous gene therapy treatments of MPS IIIA and MPS IIIB, respectively.
Epidermolysis Bullosa (EB) is a group of life threatening genetic skin disorders impacting children that is characterized by skin blisters and erosions all over the body. Recessive Dystrophic Epidermolysis Bullosa (RDEB) patients lack functional type IIV collagen due to a mutation in COL7A1.
Skin blisters cause a considerable amount of intense pain for patients with EB, and the disease is often complicated by the development of an aggressive form of squamous cell carcinoma.
Our product, EB-101, is a clinical stage gene-corrected skin graft for the treatment of RDEB patients who are often called butterfly children.
Batten Disease, otherwise known as Neuronal Ceroid Lipofuscinosis (NCL) or CLN3 is another rare and inherited lysosomal storage disorder that impacts children. Juvenile NCL (JNCL) typically appears between 4 and 7 years of age as a result of mutations in the CLN3 gene.
Often the first noticeable sign of JNCL is a change in vision which declines rapidly, resulting in blindness. As the buildup of waste product in cells continues, children lose previously acquired skills such as the ability to speak in complete sentences as well as the ability to walk or sit. They also develop movement issues such as rigidity or stiffness, slow or diminished movements and stooped posture. Beginning in mid- to late childhood, children may have recurrent seizures (epilepsy), heart problems, behavioral challenges, anxiety, dementia, and difficulty sleeping. Most live into their twenties or thirties. As of yet, no specific treatment is known that can halt or reverse the symptoms of juvenile Batten disease. The juvenile form is the most common of neuronal ceroid lipofuscinoses (NCLs) that in total affect an estimated 2 to 4 in 100,000 births in the United States.
Infantile Neuronal Ceroid Lipofuscinosis (INCL), also known as infantile Batten disease or CLN1 is another form of Batten disease similar to JNCL, presenting with visual impairment, speech and motor deterioration, and seizures. However, INCL is typically earlier onset—in the first 1-3 years of life—and progresses more quickly than JNCL, with children living into mid- to late childhood. INCL is caused by a defect in the CLN1 gene resulting in enzymatic deficiencies in palmitoyl protein thioesterase 1 (PPT1). This deficit causes accumulations in the lysosome and subsequent cell death, particularly in neurons. INCL impacts 1:100,000 live births and there are currently no FDA approved treatments.
Our products, ABO- 201, and 202, are preclinical programs for the treatments of both CLN3 and CLN1.