by Gene Therapy Offers Hope for Rare Diseases
Gene therapy involves modifying or manipulating genes for therapeutic benefits. In recent years, it has shown immense promise in treating many rare inherited genetic diseases which traditionally had no treatment options. Let’s explore how gene therapy is revolutionizing the treatment of rare diseases.
What are Rare Diseases?
Rare diseases, also known as orphan diseases, are conditions that affect a small percentage of the population. In the United States, a disease is considered rare if it affects fewer than 200,000 people. There are estimated to be between 6,000-8,000 rare diseases collectively affecting 30 million Americans.
Most rare diseases are serious, chronic, progressive illnesses that are often life-threatening. Many have no approved treatment options. Due to their small patient populations, rare diseases have traditionally received little funding and research attention from pharmaceutical companies. Gene therapy is now opening new avenues and hope for patients suffering from these previously untreatable conditions.
First Successful Gene Therapies
Some of the earliest successful gene therapy treatments were for rare genetic diseases affecting children. In 1990, 4-year-old Ashanthi DeSilva became the first person in the world to receive gene therapy for ADA-SCID, also known as bubble boy disease. Since then, numerous other gene therapy clinical trials have shown promise in treating rare diseases like inherited blindness, hemophilia, and muscular dystrophy.
In 2019, the US Food and Drug Administration approved the first gene therapy Zolgensma for spinal muscular atrophy (SMA). SMA is a leading genetic cause of infant mortality, affecting around 1 in 10,000 live births. Zolgensma delivers a functional copy of the SMN1 gene missing in SMA patients, helping children with this disease achieve developmental motor milestones.
Similarly, Luxturna was approved in 2017 as the first gene therapy for an inherited retinal disease called Leber congenital amaurosis. It delivers a normal copy of the RPE65 gene, restoring vision in affected individuals. These approvals demonstrated gene therapy’s potential to one day treat many previously incurable inherited conditions.
How Does Gene Therapy Work?
Gene therapy works by delivering normal, functional copies of genes to replace mutated, non-functional genes responsible for causing disease. There are different methods used to deliver new genes into cells and tissues.
One approach involves using modified, non-pathogenic viruses to ferry the healthy gene into the patient’s cells. Viruses have evolved to efficiently penetrate cellular membranes and introduce their genome within host cells. Researchers leverage this ability by removing the virus’s harmful genes and replacing them with therapeutic genes.
Other methods utilize non-viral vectors like naked DNA plasmids or modified lipids to shuttle genes into target cells. These synthetic carriers have advantages like lower safety risks compared to viral vectors but can be less efficient in gene delivery. Choosing the right vector is important for achieving therapeutic benefits.
Ongoing Clinical Trials and Future Prospects
There are currently over 2,000 gene therapy clinical trials underway globally seeking to treat various inherited and acquired conditions. Many of these involve rare genetic diseases. Some examples of ongoing rare disease gene therapy studies include:
– Spinal muscular atrophy – Numerous clinical trials are evaluating various gene therapy approaches for different types and stages of SMA.
– Hemophilia – Several trials are assessing one-time gene therapy to produce missing clotting factors for lifetime cure of hemophilia A and B.
– Inherited blindness – In addition to approved Luxturna, more are being developed for various retinal conditions causing vision loss.
– Lysosomal storage disorders – Gene therapies for rare metabolic disorders like Gaucher, Pompe, and MPS I diseases have shown early promise.
While still in relatively early research stages, gene therapy is showing great promise to transform treatment of rare genetic disorders. As delivery methods improve further and costs decrease with economic of scale, many see gene therapy becoming the mainstay treatment for numerous inherited conditions in the future. The treatments offer hope for curing previously incurable diseases through a single administration for lasting impact.
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1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it
