In a story from BioPharma Dive, a number of high-profile clinical trials are under way that could see conclusive results by the end of 2023. While some of these are for widespread uses or conditions, such as the treatment of pain or obesity, some of them are for rare or chronic conditions with limited treatment options. Further discussion in this article will focus on some of the latter trials, which could have major impacts in the rare disease space if successful.
Gene Therapy for Duchenne Muscular Dystrophy
Sarepta Therapeutics made history recently when its gene therapy Elevidys was recently approved by the US Food and Drug Administration (FDA) as a treatment for Duchenne muscular dystrophy. However, the gene therapy earned approval from the agency under Accelerated Approval protocols. This means that for the approval to be permanent, the therapy must still prove itself in an ongoing trial that is expected to finish up by year’s end. Elevidys is currently approved for a narrow age range of four- and five-year-old patients. 126 patients are involved in the trial. If the therapy succeeds, then Elevidys will stay on the market and will likely see its label expand to a larger age range of patients. If it fails, then its approval will be rescinded.
Acoramidis for Transthyretin Amyloid Cardiomyopathy
This drug improved several markers of heart function after one year of treatment in a phase 3 study. However, patients in the placebo group actually did better on a walk test, meaning that the treatment missed a key outcome of the trial. However, later this summer, developer BridgeBio will reveal treatment outcomes after a two-and-a-half-year treatment period. Endpoints include lack of hospitalization and increased lifespan. A successful outcome would help revive the fortunes of the drug—and potentially improve outcomes for patients with this rare heart disease.
Tolebrutinib and Evobrutinib for Multiple Sclerosis
Sanofi and Merck are neck and neck in the development of BTK inhibitors that are being evaluated in phase 3 trials as treatment for multiple sclerosis. These inhibitors are more capable of breaching the blood-brain barrier than earlier versions. The BTK inhibition mechanism halts the activity of several different immune system cells, which could be effective in multiple sclerosis (including the much rarer and currently less treatable “primary progressive” form) and potentially other autoimmune illnesses too. Both trials are expected to conclude by the end of the year.
Gene Editing for Heterozygous Familial Hypercholesterolemia
Gene editing has been making waves in recent years as a groundbreaking method for treating genetic disease, and Verve Therapeutics is hoping to use it as a treatment for heterozygous familial hypercholesterolemia, a genetic condition that results in dangerously high cholesterol levels. This treatment is in the early stages of development and the company is expected to release initial findings from its trial later this year.