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 Resources

PKD Clinical Trials Resources

FAQs about Rocket’s Gene Therapy Approach to PKD

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 in 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.

Blood stem cells are first collected from a patient. These stem cells are then genetically modified in a laboratory to introduce a correct copy of the PKLR gene using a virus that has been changed so that the virus cannot grow, spread or cause an infection. The patient is then given a type of chemotherapy medication called busulfan to remove existing bone marrow cells to make room for the genetically modified stem cells (this is also known as conditioning therapy). After receiving busulfan, the patient is given an intravenous infusion of the genetically modified blood stem cells, similar to having a transfusion. These genetically modified stem cells are expected to return to the bone marrow and to make new blood cells, including new RBCs with the functioning PK enzyme. Having a functioning PK enzyme is expected to prevent destruction of RBCs and as a result, correct anemia and reduce or prevent the need for blood transfusions in patients.

Eligible patients are 8-55 years of age who:

  • Have a PKD diagnosis with a confirmed PKLR mutation;
  • Have anemia;
  • Have been Splenectomized (spleen removed);
  • Have no evidence of severe organ damage;
  • Adequate heart, lung, kidney, and liver function;
  • Availability of detailed medical records, including accurate transfusion history and blood count assessments;
  • Willing and able to read and correctly understand the patient information sheet and provide consent (or informed assent for minors) regarding study participation, willing and able to comply with all study-related procedures including follow-up visits;
  • Negative serum pregnancy test for female patients of childbearing potential.

Full inclusion criteria can be found on clinicaltrials.gov.

Click here for information about steps involved in the trial.

Financial support, including travel arrangements and housing accommodation for patients and a family member, both for the treatment and follow-up visits, will be provided.  This will also include assistance with passports, medical visas and translation services for patients and families if these are needed.

To learn more about the PKD gene therapy clinical trial email:
[email protected]

Learn more about Rocket’s clinical trial for PKD

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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