Morquio Syndrome, also known as Mucopolysaccharidosis Type IV (MPS-IV), is a rare inherited lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). Without this enzyme, glycosaminoglycans (GAGs) cannot be fully broken down and removed from the body. The accumulated GAGs result in toxic effects throughout the body that cause the characteristic features of Morquio Syndrome.
Morquio Syndrome (MPS-IV) Drug Industry Current Treatment Options
Currently, the only FDA-approved treatment for Morquio Syndrome is enzyme replacement therapy (ERT) with Elosulfase Alfa (Vimizim). Elosulfase alfa aims to partially break down the accumulated GAGs in cells to reduce their harmful effects. While ERT has shown benefits in joint mobility and lung function, it does not fully cross the blood-brain barrier. Thus, it provides little benefit for neurological features of MPS-IV.
Bone marrow/umbilical cord blood transplantation (BMT) is another option that has been used in some severe cases. However, BMT is a high-risk procedure with serious potential complications. It also only benefits patients if administered early in the disease course before irreversible damage occurs. Due to the risks, BMT is usually only recommended for the most severe cases.
Promising Drugs in Development
Several pharmaceutical companies are actively working to develop new treatments that improve on current options. One promising candidate is ERP-1007, a recombinant human GALNS enzyme being developed by Enobia Pharma. ERP-1007 utilizes a cell line that aims to maximize Morquio Syndrome (MPS-IV) Drug uptake and distribution throughout the body. In animal and early human studies, ERP-1007 has demonstrated improved uptake in the brain and other tissues versus Elosulfase Alfa. Ongoing phase 3 clinical trials will reveal if these preclinical benefits translate to meaningful clinical outcomes for MPS-IV patients.
Another therapy under investigation is AAV-based gene therapy. This approach utilizes an adeno-associated virus (AAV) vector to deliver a functioning copy of the GALNS gene directly into cells. In animal studies, AAV gene therapy for MPS-IV has shown robust, widespread enzyme expression and reduction of GAGs throughout the body—including the brain. Small early-stage human trials have also shown promise. Larger, long-term studies are still needed but AAV gene therapy holds promise as a potentially curative one-time treatment.
Challenges Remain for MPS-IV Patients
While new treatments are advancing, major challenges remain for patients. Current ERT only partially addresses symptoms and must be administered for life via frequent infusions. Patients continue to experience progressive multi-organ dysfunction. Transitioning between pediatric and adult care can also pose difficulties for managing a rare disease over a lifetime.
Lack of natural history data also makes it difficult to measure meaningful clinical outcomes for new therapies. With such a rare disease, conducting large, well-controlled clinical trials presents many logistical difficulties. This challenges drug approval and reimbursement. Access to emerging therapies before broad approval is another obstacle many patients face.
Finally, due to the multisystemic nature of MPS-IV, no approved therapies yet address important aspects of the disease such as neurological degeneration, skeletal abnormalities, and cardiac valves disease—which are major drivers of patient morbidity and mortality. More transformative treatments are still needed.
Progress Requires Continued Efforts
While progress has been made, more work remains to provide truly effective therapies that transform the lives of those living with MPS-IV. Achieving this goal will require continued collaboration between researchers, clinicians, patient advocacy groups, regulators, and industry. Sustained funding for natural history studies and clinical trials must continue to advance promising candidates currently in development.
An individualized approach recognizing the heterogeneity of MPS-IV is also important. Together, through such efforts, we hope to one day offer a cure for all patients affected by this devastating disease.
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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
