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Development Programs ┬╗ Facioscapulohumeral Dystrophy (FSHD)

Advancing Novel Treatments for Patients with Muscle Disease

Facioscapulohumeral dystrophy (FSHD) is a progressive, heritable muscle disorder affecting up to 40,000 people in the United States.

FSHD Program Overview

Standard of Care / Unmet Need

FSHD is caused by aberrant expression of the DUX4 gene in muscle tissue, which leads to death of muscle and replacement by fat.

Weakness in FSHD is often asymmetric in contrast to many other muscle disorders, and usually progresses in a descending pattern, affecting the face, shoulders, and upper arms, followed by the distal legs, and hips. Upper extremity weakness is often most pronounced, but many patients will encounter significant difficulty walking, and about 20% will eventually require a wheelchair.

FSHD is caused by abnormal expression of DUX4, a gene that is toxic to muscle tissue. DUX4 is expressed during early embryogenesis and in adult germ line and thymus, but normally silent in muscle. DUX4 is part of a longer DNA element (D4Z4) that is most often repeated ten to more than 100 times in healthy individuals. When the number of D4Z4 repeats decreases, the D4Z4 elements change configuration in a way that enables expression of the normally-repressed DUX4 gene, leading to myocyte death and fibrofatty replacement. Inheritance of FSHD is autosomal dominant, though up to 30% of cases are de novo.

Presently there are no approved disease-modifying medicines for FSHD. Supportive treatments including physical therapy, braces, and walking assistive devices may mitigate disability, but do not slow the progression of disease.

Our Approach

Kate Therapeutics is combining its capsid and cargo technologies to deliver a microRNA against DUX4 potently and uniformly to skeletal muscles throughout the body, knocking down DUX4 in skeletal muscles while avoiding off-target tissues like the liver, supporting the potential to be a one-time safe and effective gene therapy.

FSHD Resources

Disease State Information

Advocacy Organizations

New Hope for Patients with Muscle and Heart Disease

Kate Therapeutics is a privately-held company with experienced leadership, a world-class scientific advisory team, and leading investor partners.