Potential Gene Therapy for Danon Disease Moving to Phase 1 Clinical Trial Soon

Danon disease is a rare condition caused by a mutated LAMP-2 gene. This gene has three different forms- LAMP-2A, 2B, and 2C. Depending in which variant is mutated, individuals with Danon disease will experience different symptoms. Those who have a mutated LAMP-2B gene generally suffer from severe cardiac disease. Danon disease progresses rapidly and generally results in heart failure. It can also cause skeletal myopathies, cognitive impairment, and cardiomyopathy.

Unfortunately, this disease currently has no effective treatments. Some patients undergo cardiac transplantation, however even this does not cure the disease.

This condition affects somewhere between 15,000 and 30,000 individuals in the United States and European Union alone.

An Investigation for a New Treatment

Rocket Pharmaceuticals has been working to develop a gene therapy which could treat Danon disease. They have been utilizing an adeno-associated viral vector, or AAV for this investigation. The research has been done in collaboration with University of California San Diego’s School of Medicine.

The company has just received notice that their Investigational New Drug (IND) application has been accepted by the FDA! Their treatment is called RP-A501. This approval was given after just three months of research and it marks Rocket’s first application cleared using an AAV.

Rocket can now move forward with a Phase 1 clinical trial for the therapy. It will be initiated at UC San Diego Health and the university will remain the lead center as it spreads to other trial sites. Their goal is to begin the trial within the second quarter of this year. It will specifically examine the preliminary efficacy, tolerability, and safety of RP-A501 as a treatment for Danon Disease.

Looking Forward

In addition to this study, Rocket is working on a comprehensive literature review for Danon Disease. They also plan to conduct a retrospective chart review as a part of this project. Furthermore, the organization has stated their plan to begin a natural history study which will begin enrolling in the first quarter of this year.

Ultimately, no one can say for sure yet what this research will hold. But the approval of Rocket’s IND application and their movement forward for a Phase 1 study is certainly progress for the Danon disease community. Hopefully these patients will have a new therapeutic option soon!

You can read more about this trial and Rocket’s Danon disease research here.


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