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:

Pyruvate Kinase Deficiency (PKD) Resources

PKD Clinical Trials Resources

Pyruvate Kinase Deficiency (PKD) is a rare, genetic blood disorder characterized by excessive rupture of red blood cells (RBCs), resulting in frequent, chronic anemia that can lead to life-threatening complications for patients with the severe form of the disease. PKD is caused by a defect in the PKLR gene which is found in RBCs. RBCs are responsible for carrying oxygen to the rest of the body. The PKLR gene in RBCs produces a protein (enzyme) called pyruvate kinase (PK), which is necessary for producing energy in RBCs and helps keep RBCs intact. When the PKLR gene has a defect, RBCs are limited in their ability to produce energy and stay intact because they lack the PK enzyme. Without the PK enzyme, RBCs break down faster than the body can make them. As a result, patients with PKD frequently have anemia, chronic fatigue, yellowing of the skin and eyes (jaundice) and large spleens.

RP-L301 is an investigational gene therapy that contains autologous, or patient-derived, hematopoietic stem cells (HSCs) that have been genetically modified with a lentiviral vector to contain a functional copy of the PKLR gene for the treatment of PKD. RP-L301 has the potential to correct multiple disease elements associated with PKD.

Learn more about Rocket’s clinical trial for PKD

For additional resources and more information, check out:

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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