Introduction
The genetic makeup of an adult human can be broken down into compartments with varying sizes, heritabilities, and diversity. Different kinds of genetic diseases can be attributed to disruptions in any of these compartments, which frequently interact with environmental factors. Families and healthcare providers have been plagued by genetic disorders for decades. Different diagnostic and therapeutic challenges are caused by the distinctive characteristics of each human genetic compartment. The non-targeted introduction of new genetic material to replace the lost or harmful function of altered regions, however, is a more practical kind of gene therapy for many patients. Genetic disorders are when parents pass on the abnormal genes that cause these disorders to their offspring, and hereditary diseases develop. Since genes are to blame, gene therapy is researched with high hopes. Healthy people with genetic disorders participate in a clinical study to help researchers and physicians better understand genetic disorders such as Sandhoff disease and associated conditions. This clinical research assists researchers in learning more about an illness and identifying safer ways to diagnose, cure, or prevent disease.
What Is Sandhoff Disease?
A rare genetic disorder called Sandhoff disease occurs when fatty substances called lipids build up in brain cells and other tissues, causing them to malfunction and die gradually, killing the nerve cells in the brain and spinal cord. A beta-hexosaminidase deficiency causes it. Beta-hexosaminidase is critical in supporting the central nervous system, encompassing the brain and spinal cord, due to its high dependence on this enzyme. Lysosomes, organelles in cells that degrade toxins and serve as recycling hubs, include this enzyme. Both parents must pass on the faulty gene for a child to suffer Sandhoff's illness. The typical onset age is six months, and the typical death age is 3, most frequently from respiratory infections.
What Are the Symptoms of Sandhoff Disease?
Neurological signs might be:
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Degradation of the nervous system with time.
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Difficulty initiating and regulating movements and muscles.
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Early blindness.
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Spasticity (involuntary movements).
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Myoclonus (muscle contractions that resemble a shock).
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Having an enlarged head.
Other signs can include:
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Cherry red spots in the eyes.
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Frequently affected by respiratory infections.
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Facial appearance of a doll.
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Enlarged spleen and liver.
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Heightened dread or sensitivity to sound.
The Sandhoff disease cannot be specifically treated or cured. Therefore, supportive treatment involves:
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Maintaining an open airway.
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Getting enough calories and water.
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Alleviating some of the symptoms, such as prescribing anti-seizure medications.
Can Sandhoff Disease Be Diagnosed?
1. Before Conception: Parents can learn whether they carry the disease-causing gene before being pregnant. People with the abnormal gene for a disorder but do not exhibit any symptoms or outward signs of the disease are known as carriers. There is a chance that those who carry the gene will pass the condition on to their offspring. Therefore they should get genetic counseling. The genetic disorder Sandhoff disease may manifest when both parents have the gene.
2. During Pregnancy: Sandhoff disease in the fetus can be detected during pregnancy using prenatal screening tests, chorionic villus sampling, or amniocentesis.
3. After Birth: Blood tests can be performed after delivery to check for deficient enzyme hexosaminidase A levels or to examine the DNA.
What Is Gene Therapy?
Gene therapy refers to the utilization of one or multiple genes to treat, prevent, or cure a disease or medical condition. Gene therapy involves:
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Replacing a damaged gene in a patient's cells with a healthy copy or inserting new copies of a damaged gene.
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Turning off the malfunctioning gene.
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Adding a new gene without replacing a gene.
Gene therapy has been used to treat acquired disorders like leukemia and hereditary conditions like hemophilia and sickle cell disease. Human gene therapy aims to change a gene's expression or the biological makeup of live cells for therapeutic purposes.
Dr. James A. Wyngaarden, director of the National Institutes of Health, approved the first clinical protocol to introduce a foreign gene into cancer patients' immune cells on January 19, 1989. Currently, gene therapy is being investigated for treating diseases, including cancer, genetic disorders, and infectious diseases.
What Is Gene Therapy for Sandhoff Disease?
According to current studies, Sandhoff's disease may be treated using gene therapy. Gene therapy uses a viral vector to transfer functional copies of the HEXA and HEXB genes into the cells to slow or halt the course of the disease. Scientists have figured out a safe way to harness viruses' propensity for entering cells as a vehicle for delivering functional genes. Only therapeutic (intended) genes are supplied, as the viral genes would have been removed. The viral vectors containing the functional HEXA and HEXB genes are given simultaneously through a single injection. This injection may be intra-cisterna magna, which means it will be administered near the base of the skull into the fluid-filled cavity that houses the brain and spinal cord. Similar to a lumbar puncture, an intrathecal injection might be administered. This gene therapy is in vivo since the medication is given directly into the patient's body. When the functioning genes are supplied, cells are told to produce the missing HexA enzyme. The objective is to eliminate and stop the accumulation of harmful gangliosides to restore how lysosomes operate.
The current standard of therapy for Sandhoff's disease focuses on symptom relief rather than modifying or halting the disease's potential progression. In clinical trials and preclinical investigations, better therapeutic alternatives for persons with these disorders, including gene therapy, are now being researched. The study method must include clinical trials, which try to comprehend how a medicine or treatment will interact with the human body and determine if it is safe and effective. Even earlier research stages, called preclinical studies, evaluate a treatment's efficacy and safety in cell- or animal-based models before moving on to human clinical trials. The design of clinical trials can vary in several ways. It would be helpful to explore the choices with a healthcare professional or a clinical trial research team member if one thinks about participating in experimental gene therapy through a clinical study.
Conclusion
Nearly 1000 clinical studies have been started since the first human gene therapy was performed in 1990. Though promising approaches have raised expectations due to early success, it is crucial to maintain a realistic outlook on gene therapy since further advancement would need modest, methodical growth.
