SCIEH5R12 - Pharmaceutical Regulatory Affairs - Case Study Of Gauchers Disease - Medical Science Assignment help

Assigment Task:

Gauchers Disease

Gauchers disease is the most common lysosomal storage disorder. It is an autosomal recessive disorder, caused by recessive mutations in the GBA gene which is located on the chromosome 1.The disease is prevalent in pediatrics and adults, both male and female. The GBA gene codes for the synthesis of Glucocerebrosidase (GCase), an enzyme that breaks down the fatty chemicals. As GCase is a lysosomal enzyme it is synthesized on Endoplasmic Reticulum (ER), bound polyribosomes. The mutations of the GBA gene results in protein misfolding, affecting the metabolism of the sphingoloipids. The mutant GCase variants also trigger ER associated degradation (ERAD) process. The improper functioning / dysfunction of the enzyme, allows the accumulation of the fat glucocerebrocide in different organs like liver, kidney, spleen, brain and bone marrow.

Types of Gauchers Disease

GD TYPE I (non-neuropathic):

• It is most common in Western countries and least severe form of the disease.
• Mainly affects liver, spleen and bone. Brain and nervous system are not affected.
• Symptoms may include liver and spleen enlargement, skeleton disorder like early onset of osteoporosis, fatigue.
• It is considered as treatable disease.

GD TYPE II (acute infantile neuropathic):

• It is rare and considered as the severe form of the disease.
• The disease onset is observed within 6months of the birth.
• Affects the organs such spleen, liver, bone marrow, extensive and progressive brain damage, seizures, limb rigidity, it involves severe neurological abnormalities.
• Untreatable and children affected with this type usually die by age two.

GD TYPE III (chronic neuropathic):

• The disease onset can be from childhood or at adulthood.
• It is slowly progressive and involves the severity between type I and type II with symptoms of type I and some neurological involvement.
• People affected with this disease often live into their early teens and adulthood.
• With proper treatment they can live up to 50’s.

Symptoms Of The Disease:

The common signs and symptoms of the Gaucher are

• Anemia

• Fatigue

• Enlargement of liver and spleen

• Bone infections

• Low platelet count

Studies on Disease:

• The Gauchers disease is considered as orphan disease ( Disease that affects less than 200000 people in a nation) as the drug development companies are not interested in developing the treatment due to its rare occurrence among the population. 

• Few nonprofit organizations are dedicated in serving the affected people through financial support, educational programs and also funds medical centers to develop treatment for the disease. One such is National Gaucher Foundation, NGF of The United States.

Some of the studies related to the disease are:

• International Collaborative Gaucher Group (ICGG) is an ongoing registry that tracks the outcome of the disease.

• Gaucherite – A study to stratify Gaucher disease.

• Thrombocytopathy in Gauchers disease patients.

• It is understood through the studies that there are over 300 different GBA1 mutations that results in the Gauchers disease, among which four mutations N370S, L444P, 84gg and IVS2[+1] are most common.

Currently Available Challenges And Treatment:

• There is no cure for the disease. Currently available medical treatment for the disease is ERT Enzyme Replacement Therapy. 

• The treatment replaces the deficient enzyme in the body. It is the primary treatment for Type I and for the non neurological symptoms of the Type III disease. 

• However, the treatment does not fix the genetic defect. The drug has to be administered for every 2 weeks, intravenously throughout the lifespan of the patient which costs upto $200000 annually. 

• There are three ETR drugs currently available in the market. They are imiglucerase (Cerezyme), velaglucerase alfa (VPRIV) and taliglucerase alfa (Elelyso).

Orphan Disease Challeges And Opportunities:

The disease that occurs in less than 200,000 people within a nation is known as Orphan Disease.

Challenges:

• Drug industries lack interest in developing the new treatment due to its rare occurrence.

• Also optimal dosage and dose frequency finding is difficult as only small group of people are available for the study.

• Wide variety of mutations among small population makes it difficult to study and draw out the standard conclusions.

Opportunities:

• In 1983, Congress has passed an act, Orphan Drug Act (ODA) to encourage drug and biological manufactures to manufacture orphan drugs. Similar legislation is also implemented in Japan, Australia and Europe.

Some of the benefits include:

• Tax credits for clinical research 

• Research aids

• Simplification of marketing authorization procedures

Gene Therapy For Gauchers Disease:

• So far, the treatment available for the Gauchers disease, concentrates on regulating and maintaining the enzyme levels by timely drug administration.
•  There is a possibility of treating the disease in much better way through implementing the gene therapy.
•  In gene therapy, the defective gene is targeted and replaced by the properly functioning gene which can restore the normal functionality of the protein /enzyme.
•  Viral vectors are used as carriers to deliver the interested gene into the host cell. It can be done in two ways. They are ex-vivo and in-vivo. In ex-vivo the host cells are extracted out and the therapeutic gene is inserted and the host cells are reintroduced whereas in in-vivo, the therapeutic gene carrying vector is directly inserted into the host body to enter the targeted cells.
• However it is a very slow process and needs extensive research and also includes many challenges such as the identification of the right kind of vector, designing of the vector, multiplicity of the vector, accurate delivery and insertion of the therapeutic gene, developing the strategies and methods to suppress the immune response etc.

This SCIEH5R12: Medical Science  has been solved by our Medical Science experts at My Uni Paper. Our Assignment Writing Experts are efficient to provide a fresh solution to this question. We are serving more than 10000+ Students in Australia, UK & US by helping them to score HD in their academics. Our Experts are well trained to follow all marking rubrics & referencing style.

Be it a used or new solution, the quality of the work submitted by our assignment experts remains unhampered. You may continue to expect the same or even better quality with the used and new assignment solution files respectively. There’s one thing to be noticed that you could choose one between the two and acquire an HD either way. You could choose a new assignment solution file to get yourself an exclusive, plagiarism (with free Turnitin file), expert quality assignment or order an old solution file that was considered worthy of the highest distinction.