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:

Leukocyte Adhesion Deficiency-I (LAD-I) Resources

Girl Painting with Hand

FAQs about Rocket’s Gene Therapy Approach to LAD-I

LAD-I is a rare genetic disorder affecting the immune system caused by defects in the ITGB2 gene. Patients with severe LAD-I can develop life-threatening infections because their white blood cells are unable to leave the bloodstream to fight them. Without a successful bone marrow transplant, severe LAD-I is most frequently fatal during the first 2 years of life.

Blood stem cells are first collected from a patient. These stem cells are then genetically modified to introduce a correct copy of the ITGB2 gene using a virus that has been changed in the laboratory, so that the virus cannot grow, spread or cause an infection. The genetically modified stem cells are returned to the patient after the patient receives a type of chemotherapy medication called busulfan to remove existing bone marrow cells in order to make room for the genetically modified stem cells to grow.

Patients with severe LAD-I who are at least 3 months old and who do not have an available human leukocyte antigen (HLA)-matched sibling donor for bone marrow transplant. Enrollment for this clinical trial is now closed, and the Biologics License Application is under review with the U.S. Food and Drug Administration.

  • University of California, Los Angeles (UCLA), California, USA
  • Hospital Infantil Universitario Niño Jesús, Madrid, Spain
  • University College London, Great Ormond Street Hospital for Children (UCL GOSH), London, UK

Before patients joined the study, they had to undergo several tests at the clinical center to determine whether they were eligible to join the trial. Following confirmation that a patient met the eligibility criteria for the trial, participating in the study involved:

  • Stem Cell Collection: A patient will receive medication to make stem cells enter the blood from the bone marrow. These stem cells have the potential to make different blood cells in the body for the remainder of a patient’s life. The stem cells will be collected from the body through a catheter temporarily placed in a vein. This procedure is called apheresis.
  • Infusion of Genetically Modified Stem Cells (the Investigational Gene Therapy): A patient’s stem cells will be genetically modified in a laboratory to introduce the correct copy of the ITGB2 gene. Prior to receiving the new cells, the patient will receive the chemotherapy medication busulfan to remove the existing bone marrow cells to make room for the genetically modified cells. The patient will then receive an infusion of these cells through the catheter.
  • Follow-up after Administration of the Investigational Gene Therapy: Patients will need to return for follow-up visits, including blood and bone marrow tests, over the next 2 years. In addition, patients will have long-term follow-up with their home physician approximately 1-2 times per year for another 13 years.

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

Send any questions to [email protected].

To read our Expanded Access statement, click here.

Learn more about Rocket’s clinical trial for LAD-I

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.
Scroll to Top