Biopharma Companies Move Forward with Clinical Research for Rare Diseases

Medical Development Laboratory

Later this year, Fulcrum Therapeutics will launch a Phase III study of losmapimod in people with facioscapulohumeral muscular dystrophy (FSHD), hoping to become the company to produce the first approved drug aimed at one of the most common forms of the disease.

Fulcrum’s Phase III REACH trial of losmapimod in this indication, builds on the Phase IIb ReDUX4 study that showed treatment with losmapimod slowed progression of FSHD and improved function in patients. According to the company, the primary endpoint of the REACH study will be changed in a reachable workspace (RWS), which is a measure of upper extremity range of motion critical to self-care and quality of life for FSHD patients

Classified as a rare disease, FSHD is characterized by fat infiltration of skeletal muscle, which leads to muscular atrophy in the face, scapula and shoulders, upper arms and abdomen. For patients, this fat infiltration causes a decrease in the ability to perform some basic daily living tasks. It also causes the loss of function in the upper limbs, as well as mobility and independence. Patients also experience chronic pain. There are no approved therapies for FSHD.

Bryan Stuart, president and chief executive officer of Fulcrum, said data from the IIb ReDUX4 study provided promising results. Based on that data, as well as other insights gained from other research. Stuart said Fulcrum anticipates the REACH study to be the basis for approval of losmapimod in FSHD, should the data be positive.

Fulcrum wasn’t the only company with a rare disease focus to make an announcement this morning.

New Jersey-based Tonix Pharmaceuticals announced the U.S. Food and Drug Administration granted Orphan Drug designation to the company’s intranasal potentiated oxytocin asset TNX-2900, a potential treatment for Prader-Willi syndrome. The syndrome is a genetic disease that causes life-threatening childhood obesity. In adults, Prader-Willi causes hyperphagia, the pathological over-eating condition, leading to obesity and complications associated with significant mortality. In newborns, Prader-Willi causes a deficiency in suckling, which has been shown to be normalized by oxytocin treatment.

TNX-2900 is based on Tonix’s patented intranasal potentiated oxytocin formulation. The company believes this formulation will increase specificity for oxytocin receptors relative to vasopressin receptors as well as to enhance the potency of oxytocin.

Tonix CEO Seth Lederman, M.D, said the Orphan drug designation underscores the unmet need for patients diagnosed with Prader-Willi syndrome. He said the recognition from the FDA is an important milestone for TNX-2900 and validates the company’s efforts to investigate the candidate for this indication.

Before beginning a Phase II study, Utah-based Recursion said it will conduct a dose optimization study in a sheep efficacy model of Tay-Sachs disease before enrolling infants in the clinical trial assessing REC-3599 in the ultra-rare indication infantile GM2 gangliosidosis. The company said this will delay the beginning of the problem by two years. Recursion did not provide any more detail regarding the decision

While that study will be delayed, Recursion noted that other studies remain on track. The company anticipates enrollment of patients in the Phase II study of REC-994 in Cerebral Cavernous Malformation to begin within the next few weeks. It will also enroll patients in a Phase II/III study of REC-2282 in Neurofibromatosis Type 2 in the second quarter of this year.

The company also expects to enroll patients in a Phase II study of REC-4881 in Familial Adenomatous Polyposis later this year and enroll patients in the Phase I study of REC-3964 in recurrent C. difficile colitis in the second half of 2022.

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