What is Danon Disease?
Danon Disease (DD) is a rare, X-linked disease that is characterized by severe cardiomyopathy (predominantly hypertrophic), and in many cases also includes skeletal myopathy and mild cognitive impairment. The causative mutation has been identified in the gene encoding lysosome-associated membrane protein (LAMP2), and in particular, the LAMP2B isoform, which is primarily expressed in heart, skeletal muscle and brain tissue. LAMP2B is an important mediator of autophagosome-lysosome fusion. Absence or reduced expression of LAMP2B results in the accumulation of intracytoplasmic vacuoles containing autophagic material which results in the clinical sequelae.
What is the purpose of this DD gene therapy clinical trial?
This study is a non-randomized, open-label Phase 1 clinical trial to assess the safety of infusing a single intravenous (IV) dose of recombinant adeno-associated virus serotype 9 (rAAV9) containing the LAMP2B transgene.
Who is eligible to participate in the DD gene therapy clinical trial?
Eligible subjects include male adults, adolescents, and children aged 8 or above, who at a minimum, have 1) a diagnosis of DD (confirmed by LAMP2 mutation) and 2) at least one abnormal finding on electrocardiogram (ECG), echocardiogram, cardiac magnetic resonance imaging (MRI) or electrophysiology study.
Subjects who have had a cardiac transplantation, are in advanced heart failure, or have significant hepatic, renal, and hematologic abnormalities will be ineligible to participate.
Where will the DD gene therapy clinical trial be taking place?
The University of California, San Diego (UCSD) Medical Center will be enrolling DD patients in this gene therapy clinical trial.
What does participation in the DD gene therapy clinical trial involve?
Patient screening, which may take up to 2 weeks to complete, will include a cardiac work-up (i.e., cardiopulmonary exercise testing, MRI, and cardiac biopsy), along with neuromuscular assessments and bloodwork.
Once a patient’s eligibility has been confirmed, study participation will involve:
- Infusion of the investigational gene therapy: A single IV dose of the investigational gene therapy will be infused inpatient followed by a 48 to 72 hour hospitalization post-infusion. Patients will also receive corticosteroids prophylactically to prevent or ameliorate any immune-mediated toxicities for approximately 3 months (including the taper).
- Follow-up after administration of the investigational gene therapy: Patients will need to return for follow-up visits over the 3 years following the investigational treatment to monitor safety and toxicity. Subsequent yearly follow-up may continue for an additional 2-5 years.
How much will it cost to participate in the trial?
Travel arrangements, hotel accommodations for patients and a family member, and daily meals/incidentals allowance, for the initial evaluation, treatment, and follow-up visits, will be provided.
Who can I contact with additional questions about the clinical trial?
Send any questions to danonclinicaltrial@