As if every child is our own
Apriligen’s mission is to cure rare, monogenic pediatric diseases. Our first clinical gene therapy program, APR-2020, is a purpose-built lentiviral vector to treat RPS19 deficient Diamond Blackfan Anemia (“DBA”).
Apriligen’s goal is to develop therapies for pediatric monogenic illnesses that have no cure. Our first program, APR-2020, is an autologous solution for RPS19 deficient DBA patients. We believe this platform can be applied to many DBA variants as well as other monogenic illnesses. Once approved for RPS19, Apriligen’s long-term vision is to leverage its lentiviral platform and seek additional regulatory approvals for applications in rare diseases beyond DBA.
Our Challenge
Our First Clinical Focus, Diamond Blackfan Anemia (“DBA”) (RPS19 variant)
RPS19-deficient Diamond-Blackfan Anemia (DBA) is a rare, pediatric bone marrow failure syndrome characterized by a patient’s inability to produce red blood cells (RBCs). RBCs carry oxygen throughout the body, without them human beings cannot survive.
Treatments for DBA include chronic red blood cell transfusions and corticosteroid therapy, both of which can cause serious side effects including organ failure, iron overload and cancer. Currently, the only “curative” treatment for DBA is a bone marrow transplant (HSCT). This procedure requires high-intensity myeloablative chemotherapy to eliminate the existing hematopoietic system to allow the donated cells to engraft. Patients who survive transplantation generally live with chronic graft vs. host disease as well as the well-known side effects of chemotherapy - which can include terminal forms of cancer.
DBA is considered an ultra-rare pediatric and orphan disease. APR-2020, Apriligen’s lead therapeutic candidate has been granted Orphan Drug, Rare Pediatric Disease, Fast Track and Rare Disease Evidence Principles (RDEP) designations by the US Food and Drug Administration (FDA) and Orphan Drug Designation by European Medicines Agency (EMA). It is estimated that there are approximately 5,000 - 10,000 patients living with DBA and between 50-100 new cases per year, globally. Due to this low incidence rate, new therapies with better outcomes and side-effect profiles have been slow to develop.
Our Therapy and Process
Hope from a Familiar Place
The APR-2020 treatment process involves collecting stem cells from a patient, inserting a functioning/healthy replacement RPS19 gene into those stem cells, ex vivo, and then reinfusing the ‘updated’ patient’s cells back into their body. The insertion of the healthy gene is accomplished by using a proprietary lentiviral vector as the delivery mechanism. Once the stem cells containing the corrected gene have been reinfused intravenously into the patient, the cells integrate into the patient’s bone marrow cells. From there the cells repopulate the bone marrow and regenerate naturally, thereby restoring normal functionality and ‘curing’ the patient’s inability to produce red blood cells.
Since APR-2020 is autologous (uses the patient’s own cells), no-transplant or bone marrow donor is required. This gives APR-2020 a potential advantage because the patient’s immune system doesn’t have to be suppressed and there is no risk of graft vs. host disease. In addition, a reduced intensity protocol can be used with APR-2020 to ‘make room’ in the marrow for the new cells, rather than the myeloablative chemotherapy regiment required for an allogenic (donor) transplant. This makes our method potentially far less toxic and beneficial to the patient in comparison to a bone marrow transplant or other therapies that require high doses of chemotherapy.
The IND for APR-2020 was filed with the FDA on August 4th 2025 and on September 3rd, 2025, the FDA issued Apriligen a Safe to Proceed letter for APR-2020. Phased FDA human clinical trials of APR-2020 are expected to begin in 1Q2026. Trial sites have been selected in the United States. European trial sites are expected to open towards the end of 2H2026.
In addition to receiving Orphan Drug and Rare Pediatric Disease Designations from the FDA and EMA, in 1Q2026, APR-2020 was awarded Fast Track (https://www.fda.gov/patients/fast-track-breakthrough-therapy-accelerated-approval-priority-review/fast-track) and RDEP designations (https://www.fda.gov/industry/fda-rare-disease-innovation-hub/cdercber-rare-disease-evidence-principles-rdep), both of which provide an accelerated regulatory approval pathway. Fast Track offers early and frequent communications with the FDA to rapidly resolve issues and questions, including a rolling review process, to expedite drug approval. RDEP allows a program to receive approval through a single, well-controlled clinical trial. Both programs were implemented and designed to support the development of medicines for rare diseases.
Expanded access policy
Apriligen does not currently offer an expanded access program. While Apriligen is committed to making APR-2020 broadly accessible to the Diamond-Blackfan Anemia (DBA) patient population, our first priority is safety. As we believe this critical objective is best achieved through clinical trials that are well regulated and monitored, access to APR-2020 is currently possible only through participation in our clinical trial.
Pre-clinical testing has shown that APR-2020 works in both research models and patient cells (ex. vivo). A Phased clinical trial is expected to begin in 1Q2026. The goal of this trial is to prove that APR-2020 ‘cures’ the RPS19 variant of DBA and results in permanent and normal bone marrow function without graft vs. host disease, the need for long-term immunosuppressants or high intensity chemotherapy required for allogeneic bone marrow transplants.
Red blood cell-generating stem and progenitor cells are withdrawn from a patient with RPS19-deficient DBA and combined with a delivery mechanism (the “Vector”) in a laboratory setting that contains a healthy copy of the RPS19 gene. The Vector binds with the patient’s cells and introduces the corrected gene that in turn binds in the target location within the patient cells. Because we are reintroducing the patient’s own cells back into the patient, the body and system will consider these cells native and a perfect match. To ensure there is sufficient room in the bone marrow for the corrected stem and progenitor cells to grow naturally and to overtake defective cells, a reduced dose of bone marrow conditioning is administered prior to reinsertion.
Our Progress
Our Vision
Ensuring Our Gene Therapy is Accessible
Developing gene therapies is time consuming and expensive. Correcting a gene is one of the most complicated and specialized fields in medicine. As a result, few companies and even fewer capital sources are willing to focus their efforts on developing cures like APR-2020. Access to novel gene therapies, particularly for rare pediatric diseases, is often hindered by both availability and expense. Given their low incidence rates, locating a specialized physician with the necessary expertise and experience with the disease can be challenging. When available, these experts are rarely located near the patient who may have resource constraints or be too sick to travel.
Apriligen’s Founders have committed to supporting rare pediatric disease research, the development of gene therapies using lentiviral vectors, and ensure patients who need access to cutting-edge medicines for rare, genetic illnesses, such as APR-2020, can receive treatment.
More Cures, More Birthdays
At Apriligen, our goal is to have APR-2020’s success serve as a first step to serially develop and release gene therapies by leveraging APR-2020’s technology platform (i.e. the vector/plasmid construct and gene sequencing expertise), regulatory pathway and the aggregated safety and efficacy data. We believe that our novel approach to autologous cellular gene therapy is scalable and has many significant advantages over donor matched cell transplants, including removing the need for immunosuppression and reducing the amount of toxic, pre-treatment chemotherapy administered.
Given the slow development of novel treatments and orphan drugs for rare pediatric diseases and the potential benefits from our autologous cellular gene therapy platform, we see the potential for APR-2020-style therapy to treat—and potentially cure—many conditions caused by faulty or non-functioning genes.
Our Science
A New Take on Established Science
Having been under development for almost 20 years at two of the leading academic medical and research institutions in Europe, APR-2020’s cellular gene therapy platform utilizes two established and trusted methods combined in a unique way to create a novel therapy. It is based on proven scientific and clinical principles that have been used successfully in a number of approved cellular gene therapies. In the case of APR-2020, autologous CD34+ cells are transduced with a lentiviral vector that has been embedded with a corrected target gene. Lentiviral vectors work by inserting, modifying, or removing genes in host cells.
With APR-2020, the lentiviral vector integrates a corrected copy of the RPS19 gene into the defective red blood cell-generating stem and progenitor cells. The inserted genes increase the expression of the final protein product, which reduces the amount of RPS19 gene transduction necessary for the corrected patient cells to engraft into the patient’s bone marrow, begin erythropoiesis and normalize cellular activity.
Once the defective red blood cell-generating stem and progenitor cells have been transduced with a working copy of the RPS19 gene, they are infused back into the patient. There, they can begin regular bone marrow activity and red blood cell production.
