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Danon Disease Resources
Danon Disease is a rare genetic disorder characterized by thickening and weakening of the heart muscle, often resulting in heart failure, and for male patients frequent death during adolescence or early adulthood.
FAQs about Rocket’s Gene Therapy Approach to Danon Disease
Danon Disease (DD) is a rare, genetic disorder that is characterized by severe and primarily hypertrophic cardiomyopathy. Skeletal muscle weakness and mild cognitive impairment are also common. The causative mutation has been identified in the gene-encoding, lysosome-associated membrane protein (LAMP2), and in particular the LAMP2B version of the gene which is primarily expressed in heart, skeletal muscle and brain tissue. Affected cells can no longer efficiently digest and recycle protein and other materials, leading to dysfunction in heart, muscle and brain cells.
Patients with DD receive a single (one-time) intravenous infusion with an engineered virus containing the non-mutated version of the LAMP2B gene, in an effort to restore the loss of LAMP2B function in affected heart, skeletal muscle, and brain tissue.
Eligible subjects include male adults, adolescents, and children aged 8 or above with 1) a diagnosis of DD (confirmed by LAMP2 mutation), 2) at least one abnormal finding on electrocardiogram (ECG), echocardiogram, magnetic resonance imaging (MRI) or heart electrophysiology study, and 3) several other eligibility requirements that can be explained by the enrolling physician.
Ineligible subjects are those with 1) a prior heart transplant or advanced heart failure 2) significantly abnormal liver function or other kidney and blood abnormalities, and 3) lack of several other eligibility requirements that can be explained by the enrolling physician.
Please contact the enrolling physician and his or her research team to learn more about eligibility.
- UC San Diego Health, California, USA
- Children’s Hospital of Philadelphia, Pennsylvania, USA
Before you begin the study, you will need to have several tests to determine eligibility for the trial. These tests include an exercise test, heart MRI, and other heart tests including a biopsy, muscle and nerve assessments, and blood tests. These tests can take up to 2 weeks to complete.
After the doctors conducting the study confirm that you are eligible for the trial, participating in the study will involve:
- Infusion of the investigational product:
You will receive a single-dose infusion of the investigational therapy in a hospital setting at a facility experienced with investigational therapeutics for cardiovascular disorders. Following a 48 to 72 hour hospitalization, you may be discharged. You will also receive a daily medication to prevent an immune reaction against the therapy. This medication is known as a corticosteroid (such as prednisone) and will be prescribed for approximately 2-3 months.
- Follow-up after 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-ups may continue for an additional 2-5 years.
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.