- Abnormal bones, including shortened stature and spine problems
- Intellectual disabilities
- Heart disease
- Enlarged liver and spleen
- Joint stiffness
- Vision or hearing loss
- Chronic Pain
- Shortened lifespan
Hurler syndrome (also known as Mucopolysaccharidosis I, or MPS I) and Hunter syndrome (also known as Mucopolysaccharidosis II, or MPS II) are rare genetic diseases that result in the toxic buildup of complex sugars in the body called glycosaminoglycans, or GAGs. MPS I and MPS II can lead to serious medical problems including early death. Symptoms may not present at birth, but frequently appear in early childhood and may include delayed development, enlarged internal organs, heart conditions, stunted growth, skeletal abnormalities, and joint problems.
MPS I and MPS II are caused by mutations in a patient’s DNA, which lead to an inability to produce the enzyme alpha-L-iduronidase (IDUA) or iduronate-2-sulfatase (IDS), which normally breaks down GAGs. As a consequence, GAGs accumulate in the patient’s cells throughout the body and interfere with normal function. The severity of the disease varies, depending on the type of genetic mutation and rate of GAG buildup. MPS I and MPS II both encompass a broad spectrum of patients with mild-moderate or severe disease. Mild-moderate MPS I is also known as Scheie or Hurler-Scheie syndrome.
Sangamo Therapeutics is developing genome editing treatments, SB-318 and SB-913, which are currently being tested for MPS I and MPS II. SB-318 and SB-913, are one-time experimental gene therapies designed to specifically insert a functional copy of the gene for the missing IDUA (MPS I) or IDS (MPS II) enzyme in the liver. The liver can then produce the missing enzyme potentially at high levels inside the body with the hope of improving or curing the disease, and possibly eliminating the need for lifelong ERT. SB-318 and 913 are being developed using Sangamo’s zinc finger nuclease (ZFN) genome editing technology. To learn more about how hour genomic therapies work, click the More Information button, below.