The future of orphan drugs technology: From gene therapies to AI

Pharmaceutical companies historically encountered various obstacles in developing orphan drugs and technology support, targeting rare diseases affecting a small portion of the population. Limited financial incentives posed a significant challenge. A mere 5% of orphan diseases currently have approved drugs, creating a substantial need for novel treatments. Consequently, pharmaceutical companies have redirected their drug development efforts toward addressing orphan diseases.

Nevertheless, recent advancements in technology and evolving therapeutic approaches are transforming the orphan drug landscape. This article delves into the optimistic outlook for orphan drugs emphasizing emerging technologies and therapeutic frontiers. Newer modalities such as cell and gene therapies, antibody-drug conjugates, or bispecific antibodies dominate the orphan products.|

Gene and cell therapies

The emergence of gene and cell therapies has unlocked fresh opportunities for addressing rare diseases at their fundamental origins. Gene therapy entails the introduction, removal, or modification of genetic material within a patient’s cells, aiming to treat or prevent diseases.

The pharmaceutical research and development pipeline is filled with cutting-edge CAR-T cell therapies, targeted cancer drugs, and other innovative modalities, several of which have received orphan designations. Likewise, cell therapies leverage engineered cells’ capabilities to substitute or mend damaged tissues. These methods present potential remedies for genetic disorders that were once considered incurable, instilling optimism among patients with rare diseases. 

The pharmaceutical industry is witnessing an increase in the participation of various companies in the development of rare therapies. This is coupled with the surge in cell and gene therapy assets and technology, leading to rapid growth. This inturn is intensifying competition in the market for rare disease treatments. This scenario is leading to information gaps for pharmaceutical companies as they navigate clinical and commercial decision-making processes.

Moreover, the emergence of precision medicine has been identified as a significant contributor to progress in this field. The significance of precision medicine persists for rare diseases. Given that most of them currently lack any treatment, and majorly exhibit genetic heterogeneity. Progress in genomic medicine, improved comprehension of rare diseases, effective advocacy, and sustained incentives encouraging sponsors’ engagement in orphan drug development. All of these contribute to the ongoing trends of rising product approvals and orphan drug designations.

Related reading: Navigating the future of infectious disease control with molecular diagnostics

Antibody-drug conjugates or bispecific antibodies

In the realm of antibody drugs, recent advancements have seen the rise of next-generation antibodies, including antibody-drug conjugates (ADCs), and bispecific antibodies (bispecific Abs) alongside the traditional monoclonal antibodies. ADCs have swiftly evolved as one of the most rapidly advancing drug classes in the field of oncology. This is primarily due to their minimized side effects, expanded range of treatment applications, and increased therapeutic index.

The future progress of ADCs is being influenced by recent progress in manufacturing technology for antibodies, payloads, and linkers, coupled with innovative bioconjugation platforms and cutting-edge analytical techniques For instance, a monotherapy  (moxetumomab pasudotox) developed by a pharma giant for the treatment of hairy cell leukemia (HCL) which is categorized as a rare cancer, received FDA approval in 2018. 

Moreover, similar to ADCs, most bispecific antibodies (BsAbs) under development target cancer, while others are directed toward addressing chronic inflammatory, autoimmune, and neurodegenerative diseases. BsAbs possess the capability to target two distinct antigens, enabling enhanced precision, heightened specificity, and diminished toxicity. Bispecific antibodies (BsAbs) typically engage a tumor epitope in conjunction with CD3 on T-cells, initiating T-cell activation and subsequent destruction of tumor cells.

These therapies demonstrate significant potential in patients with multiple myeloma (MM), with an inaugural agent, a monoclonal antibody securing regulatory approval in 2022. Also, in 2023, a groundbreaking biparatopic 2+1 BEAT bispecific antibody designed to target CD38 and CD47 received orphan drug designation from the FDA for treating relapsed/refractory multiple myeloma patients.

Artificial Intelligence (AI) in drug discovery

The pharmaceutical drug development space is seeing tangible change as numerous prominent companies increasingly concentrate on orphan drugs tailored for small, specialized markets. AI and machine learning algorithms hold the potential to profoundly influence the development of orphan drugs. They achieve this by simplifying the drug discovery process, forecasting drug-target interactions, and pinpointing potential opportunities for repurposing drugs for rare diseases.

Machine learning algorithms analyze vast datasets to identify potential drug candidates, predict their efficacy, and optimize treatment regimens. AI accelerates the identification of novel compounds and streamlines the drug development pipeline, reducing costs and timelines. In the context of orphan drugs, where resource constraints are common, AI offers a cost-effective and efficient approach to drug discovery. 

The USFDA has recognized the potential of AI/ML in drug development. The FDA acknowledges the growing utilization of AI/ML across the drug development life cycle and in various therapeutic domains. For instance, in 2023, an AI-driven biotech company received the inaugural Orphan Drug Designation from the FDA for a drug identified and developed utilizing AI. The designated drug is the company’s primary candidate in the pipeline, known as INS018_055, which is a small molecule inhibitor designed for treating idiopathic pulmonary fibrosis (IPF).

Therapeutic frontiers in orphan drug development

Protein replacement therapies are proving as therapeutic frontiers in treating various orphan diseases characterized by protein deficiencies. They are being studied for various conditions ranging from enzyme deficiencies to rare genetic disorders. In addition, the advent of gene replacement therapies marks a transformative era in orphan drug development. By targeting the root genetic cause of rare diseases, these therapies aim to restore normal cellular function. CRISPR-based technologies, viral vectors, and other innovative tools have paved the way for precise gene editing and replacement. 

Patient advocacy and regulatory reforms

Rising patient advocacy and awareness are propelling regulatory changes aimed at simplifying the development of orphan drugs. Governments and regulatory entities are implementing incentives. These include prolonged market exclusivity and tax credits, to incentivize pharmaceutical firms to dedicate resources to rare disease research. Moreover, accelerated approval processes and specialized regulatory pathways for orphan drugs expedite the accessibility of innovative treatments for patients.

Future aspects of orphan drug development

The future of orphan drugs is promising, with emerging technologies and therapeutic frontiers reshaping the landscape of rare disease treatment. Protein and gene replacement therapies hold great promise for transforming the lives of individuals affected by rare diseases. The outlook for individuals affected by rare diseases is increasingly optimistic as these approaches continue to evolve. This offers new hope for improved outcomes and ultimately, the possibility of cures.

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