Diagnosed with Danon Disease?
Clinical studies can shed new light on the progression of the disease and investigate new potential treatments.
Join a Clinical Study in Danon Disease
Danon disease is caused by changes in the LAMP2 gene, which prevents cells from clearing waste properly. Over time, waste buildup can harm the heart and other organs, leading to decreased heart function and other serious complications.
Doctors currently treat this disease by managing its symptoms, focusing on heart problems, since they are the most dangerous. While a heart transplant is currently the only intervention that can restore the heart's function, it is difficult to get because of a shortage of donor hearts and the risk of serious side effects. Scientists are currently studying other investigational treatment options.
Joining a Danon disease clinical study provides the opportunity to contribute to research on investigational new treatments led by expert Danon disease clinicians.
Danon Disease Clinical Research Studies
Observational study to collect the medical history and day-to-day experiences of people with Danon disease to provide researchers a greater understanding of this condition. No treatment added in this study.
Interventional study for Danon disease, with the gene therapy designed to deliver a functional LAMP2 gene into a patient's cells to replace the damaged gene.
Danon Disease Natural History Study
You have the opportunity to help researchers better understand Danon disease and make an impact on the care of future patients. Because Danon disease is such a rare condition, and there is limited information available, this study helps researchers understand the disease and how it may potentially be treated. Researchers need to learn from the real-life experiences of people living with Danon disease, and by joining the LAMPLIGHT Natural History Study, you can provide the information needed.
What to expect during the study:
Yearly lab and echocardiogram (ECHO) and electrocardiogram (EKG) assessments, reporting on key events, and the impact of the disease on quality of life, as it is managed with current treatments, for a total of 3 years.
You do not receive any new therapy as part of the study.
Visits take place at a study site or, in some cases, can be conducted remotely.
You will continue to see your doctor for regular care.
Note: Costs associated with participation are covered by the study.
Who Can Participate?
Males, age 8 years or older
Females, age 8 to 50 years
Diagnosed with
Danon disease
LAMPLIGHT Danon Disease Gene Therapy Study
The LAMPLIGHT Gene therapy study is an investigational clinical study. The goal of this clinical study is to understand the long-term safety and efficacy of the gene therapy in improving heart function for patients living with Danon disease.
How does gene therapy work?
Replacing the gene: The goal of gene therapy is to deliver a working copy of the LAMP2 gene to the heart cells and enable them to clear waste properly.
Single-dose infusion: Treatment is given only once, as a single intravenous (IV) infusion. You will also be given medications to prevent activation of your immune system before, during and after infusion.
Who Can Participate
Males, age 8 years
or older
Diagnosed with
Danon disease
Have not received a heart transplant
Please note: this study is not available to those currently participating in any other investigational clinical studies or who have received any other gene therapy treatment
How to Join the Gene Therapy Study
STEP 1
Support Team Interview
Share your diagnosis, symptoms, and
treatment history. If you qualify, you
will be directed to a leading Danon disease specialist participating in the clinical study.
STEP 2
Study Site Review
The study site team will review your medical history and confirm
whether you can move forward in
the clinical study process.
STEP 3
Eligibility Screening & Discussion
This will occur at the study site and
includes lab assessments and a more
detailed medical history review.
In certain cases, this step may be
done remotely.
What to Expect When Joining
STEP 1
Initial Testing
This will occur at the study site and
includes ECHO, EKG, cardiac MRI, heart
biopsy* and additional lab assessments that include blood and urine tests.
STEP 2
Treatment & Monitoring
You will receive pre-treatment to
prepare your immune system. You
will be hospitalized for gene therapy
treatment and for safety monitoring
which will continue as an outpatient.
STEP 3
Follow-Up
You will return to the clinical
site for ongoing monitoring over
the course of 5 years.
*ECHO: echocardiogram: uses ultrasound to evaluate your heart’s size, shape, and assess performance.
EKG: electrocardiogram: is a non-invasive test that records the electrical signals in the heart. Sticky pads (electrodes) connected to the ECG machine will be attached to the skin on your arms, legs, and chest. The ECG is used to measure the rate and rhythm of heartbeats, the size and position of the heart chambers, and may identify damage to the heart.
Cardiac MRI: uses a magnetic field and radio waves to produce detailed pictures of the structures within and around the heart. It is used to monitor heart disease. The MRI also involves the injection of a material known as gadolinium into the bloodstream through a catheter; this acts as a contrast agent to allow the MRI to show some specific features of the heart muscle.
Heart biopsy: A heart biopsy involves a doctor inserting a small tube (a catheter) into a vein in the neck and advancing it to the right side of your heart. The catheter has special sensors in it that the doctors will use to measure the pressure and blood flow within your heart. Once the catheter is inserted, the doctor uses a special type of moving x-ray called fluoroscopy, which allows the doctor to guide the catheter to reach portions inside the heart. Once the catheter is in the correct location, a device at the end of the catheter, called a bioptome, can remove small pieces (smaller than a grain of rice) of the heart muscle. The procedure will require either local or general anesthesia. General anesthesia means you will be put to sleep for the procedure. Local anesthesia means that the area of the skin where the catheter is placed will be numbed, but you will remain awake for the test.
Frequently Asked Questions
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A genetic test, ordered by a healthcare provider, can detect whether there is a damaged or missing LAMP2 gene.
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A natural history study is also called an “observational study” because unlike an interventional study, patients do not receive any treatment. Researchers observe and collect information, including lab assessments, about a condition. People in the study stay on the treatments they already use and will continue to see their doctor for regular care.
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First, fill out and submit the form with the basic information. The support team will then contact you to review the information and discuss the study’s requirements. If the patient meets the criteria, the support team will connect you with a clinical study site.
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Yes. If a male patient joins the Natural History study and is interested in learning more about participation in the Gene Therapy study, a discussion should be had with the Natural History study Principal Investigator to receive a referral to the Gene Therapy study team.
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The costs associated with study visits and treatment, including travel, lodging, and meals are covered by the study.
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Participation is voluntary, and up to you and your family. You can withdraw from the Natural History study, and discontinue the process of screening and testing for the Gene Therapy study at any time. This will not impact your regular clinical care.
Sources:
1. https://clinicaltrials.gov/study/NCT06092034 and https://clinicaltrials.gov/study/NCT06214507
2. Data on file, Rocket Pharmaceuticals, Inc. 2026.
3. https://pmc.ncbi.nlm.nih.gov/articles/PMC4133537/#sec7
4. Clinical Profile of Cardiac Involvement in Danon Disease | Circulation: Genomic and Precision Medicine https://pubmed.ncbi.nlm.nih.gov/34775111/
5. Boucek D, Jirikowic J, Taylor M. Natural history of Danon disease. Genet Med. 2011;13(6): 563-568.
6. Brambatti M, Caspi O, Maolo A, et al. Danon disease: Gender differences in presentation and outcomes. Int J Cardiol. 2019;286:92-98.
Ready to Join?
Fill out the form here so we can contact you with more information about joining our
LAMPLIGHT Danon disease studies