Early Onset FSHD Patients Focus of New Clinical Study

Margarida Azevedo, MSc avatar

by Margarida Azevedo, MSc |

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aTyr Pharma, Inc., has announced an expansion of its Phase 1b/2 clinical trial to continue the development and evaluation of efficacy and safety of the Resolaris clinical program, for the treatment of early onset facioscapulohumeral muscular dystrophy (FSHD) patients.

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscular disorder, characterized by progressive muscle degeneration, weakness and atrophy, specially affecting muscles in the face, shoulder blades and upper arms. FSHD is caused by a genetic mutation on chromosome 4, although 30% of new FSHD cases are a result of congenital spontaneous genetic mutation (no family history). Early onset FSHD refers to patients that experience symptoms of muscle degeneration at a young age, even with serious myopathy symptoms. According to the Facioscapulohumeral Muscular Dystrophy Society, this genetic disorder is estimated to affect about 870,000 people worldwide, although this number might be higher due to undiagnosed cases.

Resolaris is aTyr’s first clinical product candidate for the therapy of rare myophaties with an immune component (“RMICs”), developed through psysiocrine biology, namely the Resokine pathway identified by the company’s scientists which is believed to promote skeletal muscle and lung health and homeostasis. Besides being evaluated in an ongoing Phase 1b/2 clinical trial for the treatment of adult FSHD and, now, of early onset FSHD, the Resolaris program also recently initiated a Phase 1b/2 clinical trial with limb girdle muscular dystrophy (LGMD2B), a rare genetic myopathy comprised of 20 different subtypes with no approved therapies. In the three trials, Resolaris’ immunogenicity and biological activity will be assessed through blood borne markers and magnetic resonance imaging (MRI) of skeletal muscle.

For the early onset FSHD trial, clinical sites now are preparing to screen patients for inclusion and expect to enroll up to 16 patients, in two groups, who displayed signs or symptoms of the disease before age 10. A first-stage group will include up to eight patients ages 16–25, and a second stage of up to eight patients ages of 12–15. This trial is a multicenter, open-label, dose escalation study designed to assess the safety, tolerability, immunogenicity, and biological activity of Resolaris.

John Mendlein, Ph.D., CEO and executive chairman of aTyr Pharma, announced in a press release, “The initiation of our early onset FSHD Resolaris program is an important step in addressing the needs of some of the most severely affected FSHD patients. With this trial, we continue to advance our new class of Physiocrine-based therapeutics to harness the body’s natural immune processes in rare muscle disease.”