RP-A501 is being developed for Danon Disease, 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. Rocket is the first company demonstrating safety and efficacy data in clinical studies for gene therapy targeting the heart.

An open-label, global Phase 2 pivotal clinical trial of RP-A501 for the treatment of Danon Disease has commenced. The trial is expected to enroll 12 male patients from the U.S. and EU. The trial will assess a co-primary endpoint consisting of LAMP2 protein expression and left ventricular (LV) mass reduction from baseline at 12 months.

Phase 2 Trial Sites

For more details about the RP-A501 for Danon Disease clinical trial, visit clinicaltrials.gov.

Frequently Asked Questions

The Natural History of a Disease is the typical progression of the disease over a person’s lifetime starting from its onset

Natural History studies are observational studies that gather comprehensive data on the course of the disease to gain a better understanding of its progression and impact on patients. Data captured may include information on the physical signs and symptoms patients experience, test results (for example blood tests or imaging), genetic information, and health-related quality of life, over a period of time. This information helps describe the disease course and identify important factors (e.g. demographic, genetic, and/or lab test results), that may contribute to better or worse disease outcomes.

Travel, accommodation, and food stipend would be provided. Study assessments are provided free of charge.

Natural History Studies are particularly important for rare diseases. Given the diversity of symptoms and the small size of the patient population, these studies are often the only opportunity for researchers and physicians to address significant knowledge gaps and obtain a robust understanding of the disease and patient experience.

Engaging in a Natural History Study offers numerous benefits to the community, such as:

  • Raising awareness in medical, academic and pharmaceutical sectors
  • Empowering rare disease patient communities with knowledge and support for advocating better healthcare policies and support services
  • Enhancing patient care with improved insights into disease progression, allowing for more personalized treatment plans and potentially earlier detection of complications
  • Contributing to advancements in healthcare

These studies provide various avenues to help inform and design clinical trials, such as:

  • Highlighting areas of unmet medical need
  • Understanding characteristics of the patient population to define a treatment benefit from a patient’s perspective.
  • Describing disease progression, enabling the identification of clinical outcome measures and biomarkers
  • Provide patient-centric data for health authorities such as the FDA, and other public health institutions to use in their review processes of investigational treatments.
Learn more about Rocket’s clinical trial for FA

Interested in learning more?
Visit our Patients & Caregivers page or email us at clinicaltrials@nullrocketpharma.com

View more details about the Phase 2 pivotal trial of RP-A501 and natural history study on clinicaltrials.gov.

To read our Expanded Access statement, click here.

Our Disease Focus

our focus hero

At Rocket, we are in pursuit of gene therapy cures for patients living with rare and devastating genetic diseases.

Our Pipeline

Rocket’s pipeline is comprised of first-in-class gene therapies that incorporate either AAV or LV approaches to gene therapy.

Cardiovascular

Danon Disease 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 for 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 cannot efficiently digest and recycle protein and other materials, leading to dysfunction in heart, muscle and brain cells.

RP-A501 is a gene therapy product consisting of a recombinant adeno-associated serotype 9 (AAV9) capsid containing a functional version of the human LAMP2B transgene (AAV9.LAMP2B) which is administered as a single intravenous (IV) infusion. RP-A501 has the potential to restore normal cardiac function in patients with Danon Disease.

PKP2 arrhythmogenic cardiomyopathy (PKP2-ACM), also known as ARVC or ARVD, is a high-risk cardiomyopathy caused by autosomal dominant mutations in the PKP2 gene. PKP2-ACM is characterized by frequent and life-threatening ventricular arrhythmias and structural ventricular myopathy. Available treatments fail to address the underlying genetics and disease biology and do not alter disease progression.

RP-A601 is an investigational gene therapy consisting of a recombinant adeno-associated serotype rh74 (AAVrh74) capsid containing a functional version of the human PKP2 transgene (AAVrh74.PKP2) which is administered as a single intravenous (IV) infusion.

BAG3-associated dilated cardiomyopathy (BAG3-DCM) is a rare genetically driven form of heart failure caused by mutations in the BAG3 gene. BAG3 protein is expressed predominantly in the heart, where it has multiple functions within the cell due to the presence of multiple protein binding sites. BAG3 protein has roles in sarcomere maintenance, normalization of protein quality control, inhibition of programmed cell death, and responsiveness to adrenergic signals. Because BAG3 plays a role in multiple critical myocardial cell functions, we believe gene therapy offers unique potential to directly restore proper cellular function. The preclinical program was acquired by Rocket through the acquisition of Renovacor, completed in December 2022.

Hematology

LAD-I is a rare genetic disorder affecting the immune system and is caused by a defect in the ITGB2 gene, leading to a deficiency in CD18. Due to this deficiency, white blood cells (primarily neutrophils) are unable to leave the bloodstream to go to sites of infection or inflammation. As a result, patients with severe LAD-I can develop life-threatening infections which they are unable to fight. Without a successful bone marrow transplant, survival beyond childhood is rare.

RP-L201 is a gene therapy product containing autologous (patient-derived) hematopoietic stem cells (HSCs) that have been genetically modified with a lentiviral vector to contain a functional copy of the ITGB2 gene.

FA is a rare genetic disorder affecting DNA repair. Approximately two-thirds of FA cases are caused by genetic defects in the FANCA gene, which results in the FA subtype known as FA Complementation Group A (FA-A). FA patients may develop bone marrow failure (very low blood counts), cancers of the blood or other cancers.

RP-L102 is a gene therapy product containing autologous (patient-derived) hematopoietic stem cells (HSCs) that have been genetically modified with a lentiviral vector to contain a functional copy of the FANCA gene. If given early in life, RP-L102 gene therapy has the potential to serve as a preventative measure, correcting bone marrow cells before there is progression to severe bone marrow failure.

PKD is a rare genetic blood disorder. PKD is caused by a defect in the PKLR gene which is responsible for energy production in red blood cells (RBCs). RBCs carry oxygen to the rest of the body. When the PKLR gene has a defect, RBCs are limited in their ability to produce energy and remain intact. As a result, patients with PKD frequently have anemia, chronic fatigue, yellowing of the skin and eyes (jaundice) and enlarged spleens.

RP-L301 is a gene therapy product containing autologous (patient-derived) hematopoietic stem cells (HSCs) that have been genetically modified with a lentiviral vector to contain a functional copy of the PKLR gene. RP-L301 has the potential to correct multiple disease elements associated with PKD. Due to the number of patients who could benefit from RP-L301, Rocket’s PKD program has the potential to become its largest lentiviral vector program.

Wave 2 Progams

We are using our successful disease-first approach to advance multiple undisclosed candidates to potential clinical development.

Find out more about our ongoing clinical trials for these disease areas here.

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