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.

Patients & Caregivers:

Plakophilin-2 Related Arrhythmogenic Cardiomyopathy (PKP2-ACM) Resources

hand print and women smiling PKP2-ACM

FAQs about Rocket’s Gene Therapy Approach for PKP2-ACM

PKP2-ACM, also known as ARVC and ARVD, is an inherited heart disease caused by mutations in the PKP2 gene and characterized by life-threatening ventricular arrhythmias, cardiac structural abnormalities, and sudden cardiac death. PKP2-ACM affects approximately 50,000 adults and children in the U.S. and Europe. Patients living with PKP2-ACM have an urgent unmet medical need, as current medical, implantable cardioverter defibrillator (ICD), and ablation therapies do not consistently prevent disease progression or arrhythmia recurrence, are associated with significant morbidity including inappropriate shocks and device and procedure-related complications, and do not address the underlying pathophysiology or genetic mutation.

RP-A601 is being investigated as a one-time, potentially curative gene therapy treatment that may improve survival and quality of life for patients affected by this devastating disease. Patients receive a single (one-time) intravenous infusion with an engineered, non-active adeno-associated (AAV) virus that delivers the corrected version of the PKP2  gene, in an effort to restore normal PKP2 function in the affected heart tissue.

  • Eligible patients are adults with a clinical diagnosis of ACM as defined by the 2010 revised Task Force Criteria (TFC), documentation of a pathogenic or likely pathogenic truncating variant in PKP2, anti-AAVrh.74 capsid neutralizing antibody titer ≤1:40, and history of implantable cardioverter-defibrillator (ICD) implantation ≥6 months prior to enrollment.
  • Ineligible patients have cardiomyopathy caused by a genetic mutation other than PKP2 truncating variant, previously participated in a study of gene transfer or gene editing, severe right ventricular (RV) dysfunction, left ventricular ejection fraction by echocardiogram ≤50%, or New York Heart Association (NYHA) Class IV heart failure.
  • Please contact the enrolling physician and their research team to learn more about eligibility.

Before you begin the study, you will need to have several tests to determine eligibility for the trial. After the doctors conducting the study confirm that you are eligible, the study will involve a single-dose infusion of the investigational gene therapy (RP-A601) in a hospital setting. Following the infusion, patients will be monitored and return for follow-up visits throughout the duration of the study.

  • UC San Diego Health, California, USA
  • Children’s Hospital of Philadelphia, Pennsylvania, USA

Visit clinicaltrials.gov for more information

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.

Send any questions to [email protected].

Read our infographic for more information about the Phase 1 study
Learn more about Rocket’s Phase 1 clinical trial for PKP2-ACM

For additional resources, we encourage you to reach out to the groups below.

If your group would like to be included in our list of patient resources, please reach out to us at patients@nullrocketpharma.com.

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