Danon disease (DD) is an extremely rare condition that is not very well understood in the medical community. It was first described in 1981, and it is named after the doctor who identified it. Danon disease is characterized by muscular dystrophy and cardiomyopathy as well as intellectual disability. The condition typically affects males much more severely than it affects females and females often develop symptoms much later in life.
Danon disease is caused by a mutated LAMP2 gene. While researchers are still unsure of the specific role this gene plays in the body, we do know it is located within the lysosomes.
The condition is often mistaken for Pompe disease as the muscular effects of both conditions appear the same. However, they are completely different illnesses.
Like many diseases, rare and common, Danon disease patients have the best outcomes when they are treated with a collaborative approach. Their treatment should include specialists in the fields of genetics, cardiology, rehabilitation medicine, neurology, physical therapy, and ophthalmology, in addition to their primary care physician.
You can read more about Danon disease on this website or in this informational packet. The website was created by Matthew Taylor, MD in 2006. He is a physician dedicated to the study of Danon disease. His hope is that this website will provide both patients and the public with information about the condition and eventually lead to a disease registry. He also hopes it will help in the search for patients who want to participate in research.
Currently, the website has information on Dr. Taylor’s new Phase 1 clinical trial for the disease which is currently enrolling patients.
A New Clinical Trial
This Phase 1 Clinical trial for Danon disease will investigate a gene therapy product called RP-A501. The therapy will be administered using an adeno-associated virus serotype 9 (AAV9).
The study will enroll between 12 and 24 male DD patients as young as 8 years old. These participants will be divided into four cohorts by age and dose level. Two of the cohorts will receive a lower dose of the therapy and two of the cohorts will receive a higher dose. The first cohort to enroll will include patients age 15 and older. This cohort will be given a low dose of the therapy. If data from this cohort provides adequate evidence of safety, enrollment in the next cohort will begin.
This trial is being sponsored by the March of Dimes.
To learn more about this trial or for information on how to participate, you can email Dr. Taylor directly.