Studying
Danon Disease
Illuminating the course of disease and evaluating an investigational treatment
Seeking Participants for Danon Disease Clinical Research
Danon disease is a rare X-linked dominant disorder caused by a pathogenic lysosomal-associated membrane protein 2 (LAMP2 gene), which results in lysosomal dysfunction and impaired autophagy. Its key clinical feature is cardiomyopathy with a high rate of progression to heart failure; available treatments are primarily supportive in nature and are used to reduce heart failure symptoms and risk of arrhythmias³. Cardiac transplant is currently the only definitive therapy; however, its use is limited by availability and significant risk of morbidity and mortality⁴ ⁵ ⁶.
Due to the rarity of the condition and the lack of evidence-based Danon disease studies,
more research is needed to understand the natural history of the disease in both males and females
LAMPLIGHT Natural History Study
Recent small prospective and retrospective natural history studies have been completed in Danon disease, but more data is needed to understand the clinical course of this condition and contribute to the development of new therapies.
The LAMPLIGHT-NH study is a global observational study designed to collect both retrospective and prospective longitudinal data.
The goal of this natural history study (enrolling both males and females) is to characterize the clinical outcomes of patients treated with currently available standard of care therapies, serve as an external comparator to contextualize the results of the gene therapy study, and inform future trials.
Key Eligibility Criteria of LAMPLIGHT-NH
The Natural History Study has a prospective arm and a retrospective arm
Prospective arm:
☑️ Males, Age 8 years or older
☑️ Females, Ages 8 through 50 years
☑️ Diagnosis of Danon disease
☑️ Documentation of a pathogenic, or likely pathogenic variant, of the LAMP2 gene
☑️ Females with evidence of left ventricular hypertrophy
Retrospective arm:
● Patients meeting the above criteria who have a history of cardiac transplantation, mechanical circulatory support, or are deceased may participate in the retrospective cohort.
For the complete listing of inclusion/exclusion criteria for the Natural History study go to: https://clinicaltrials.gov/study/NCT06214507
LAMPLIGHT-2 Gene Therapy Clinical Study
A Phase 2 study (LAMPLIGHT-2) designed to assess the efficacy and safety of RP-A501 in treating Danon disease-associated cardiomyopathy.
RP-A501 is a one-time investigational AAV gene therapy designed to correct the underlying LAMP2 genetic defect with the intent of normalizing myocardial structure and function in Danon disease. Currently, the only definitive option for patients with advanced heart disease is cardiac transplantation, which is reserved for end stage disease due to limited availability and significant risk of morbidity and mortality.
Thus, there is an urgent unmet medical need for therapies that have the potential to enable early treatment of Danon disease, prevent the severe cardiomyopathy and associated arrhythmias, and improve clinical outcomes for patients with this rare and fatal disease.
About the Gene Therapy
RP-A501, investigational gene therapy under development for Danon disease, uses a recombinant adeno-associated virus serotype 9 (rAAV9) capsid to deliver the human LAMP2 transgene with the goal of restoring the autophagic defect responsible for the development of cardiomyopathy.
Gene therapy will be delivered in a one-time intravenous infusion (IV); patients will also receive a transient immunomodulation regimen (rituximab, sirolimus, corticosteroids) with the goal of mitigating potential AAV-related immune toxicities. Follow up will continue for five (5) years after gene therapy administration.
Key Eligibility Criteria of LAMPLIGHT-2
Inclusion
☑️ Males, Age 8 years or older
☑️ A confirmed diagnosis of Danon disease
☑️ Documentation of a pathogenic, or likely pathogenic variant, of the LAMP2 gene
☑️ Presence of LV hypertrophy with preserved systolic function (LEFV >50%, or other specific criteria based on age)
☑️ Have not received any organ transplant, especially heart
☑️ NYHA Class II or III
☑️ High sensitivity cardiac troponin I(hsTnI[CLM1] ) ≥ 20% above ULN
Exclusion
⛔ Severity of cardiovascular disease, such as requiring mechanical circulatory support (MCS) or mechanical ventilation, or intravenous inotropic, vasodilator, or diuretic therapy
⛔ Severity of other comorbid conditions
⛔ Prior or concomitant therapies such as:
- immunosuppressive treatments
- anticoagulants for conditions other than atrial fibrillation or flutter
- pegcetacoplan or other C3 inhibitors
⛔ Currently participating in any other investigational clinical studies or has received any previous gene therapy
For the complete listing of inclusion/exclusion criteria for the Gene Therapy study please visit https://clinicaltrials.gov/study/NCT06092034
Background Information
Study Design and Process
The LAMPLIGHT-2 is a Phase 2 global, multi-center, single arm, open-label study, designed to assess the efficacy and safety of a single intravenous dose of the gene therapy (RP-A501) in treating the cardiomyopathy associated with Danon disease. The trial will include a total of 5 years of follow-up after administration of the gene therapy.
Screening
Immunomodulation
Treatment & Inpatient Observation
5 Years
Follow Up
References:
https://clinicaltrials.gov/study/NCT06092034 and https://clinicaltrials.gov/study/NCT06214507
Data on file, Rocket Pharmaceuticals, Inc. 2026.
https://pmc.ncbi.nlm.nih.gov/articles/PMC4133537/#sec7
https://pubmed.ncbi.nlm.nih.gov/34775111/
Frequently Asked Questions by Patients
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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.
Referring a Patient to a
LAMPLIGHT Danon Disease Study
If you have a patient you think might be a match for either the LAMPLIGHT-NH or LAMPLIGHT-2 studies, here’s how you can refer them to a study site:
Send caregivers and patients to Lamplightstudy.com for a patient-friendly explanation of the study, with a form to submit to be contacted by the study’s support team. The support team will work to navigate the patient to the study site.
Alternatively you can send caregivers and patients to our support line [1-800-000-000]
This website is for the use of US residents only.
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.
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