How is idursulfase produced?

How is idursulfase produced?

Idursulfase is produced by recombinant DNA technology in a human cell line. Idursulfase is an enzyme that hydrolyzes the 2-sulfate esters of terminal iduronate sulfate residues from the glycosaminoglycans dermatan sulfate and heparan sulfate in the lysosomes of various cell types.

What is Hunter’s syndrome?

Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. In Hunter syndrome, the body doesn’t have enough of the enzyme iduronate 2-sulfatase.

Who manufactures ELAPRASE?

Authorisation details

Publication details
Marketing-authorisation holder Takeda Pharmaceuticals International AG Ireland Branch
Revision 24
Date of issue of marketing authorisation valid throughout the European Union 08/01/2007
Contact address Block 3 Miesian Plaza 50-58 Baggot Street Lower Dublin 2 D02 Y754 Ireland

How is ELAPRASE produced?

Elaprase is designed to be comparable to a naturally occurring enzyme and is produced by recombinant DNA technology in a human cell line. Life-threatening anaphylactic reactions have occurred in some patients during and up to 24 hours after ELAPRASE infusions.

Is Hunter syndrome fatal?

No cure is available for Hunter syndrome. The most severe cases can be life-threatening, with life expectancy typically between 10 and 20 years. People with mild cases of the disease typically live longer into adulthood.

How is enzyme replacement therapy done?

Enzyme Replacement Therapy: The Basics

The most common method of ERT is through IV infusions, in which the replacement enzyme is administered directly into the bloodstream through a controlled drip of fluids.

What is Niemann Pick?

Publications. Definition. Niemann-Pick disease (NP) refers to a group of inherited metabolic disorders known as lipid storage diseases. Lipids (fatty materials such as waxes, fatty acids, oils, and cholesterol) and proteins are usually broken down into smaller components to provide energy for the body.

What is Noonan syndrome?

Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.

When was ELAPRASE approved by the FDA?

Approval Date: 07/24/2006.

What does ELAPRASE treat?

ELAPRASE (idursulfase) is a prescription medicine for patients with Hunter syndrome (Mucopolysaccharidosis II, MPSII), which was approved by the FDA in 2006.

How often is ELAPRASE given?

ELAPRASE is administered as an intravenous infusion at a recommended dose of 0.5 mg per kg of body weight given once a week.

How do you test for Hunter syndrome?

A definitive diagnosis of Hunter syndrome is made by measuring iduronate-2-sulfatase (I2S) activity. This can be done by taking blood and testing the I2S activity in serum or white blood cells, or by taking a skin biopsy and testing the I2S activity in skin fibroblasts.

What type of doctor treats Pompe disease?

Because Pompe disease can affect many parts of the body, it’s best to see a team of specialists who know the disease well and can help you manage your symptoms. This might include: A cardiologist (heart doctor) A neurologist, who treats the brain, spinal cord, nerves, and muscles.

How much does enzyme therapy cost?

Paying for Enzyme Replacement Therapy
ERT can be very expensive, totaling up to $200,000 or more each year. Insurance may cover most of this cost, and resources are available if you need help paying for ERT treatments.

How much does enzyme replacement cost?

Enzyme replacement therapy (ERT) resulted in 4.21038 quality-adjusted life years (QALY) per $381,852. The incremental cost per QALY was $96,809 and the incremental cost per life years gained (LYG) was 74,429 over a 22-year time horizon. Sensitivity analysis indicated the robustness of the results.

What is Gaucher disease?

Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.

What is Kabuki syndrome?

What is Kabuki syndrome? Kabuki syndrome is a rare congenital disorder, meaning that a child is born with the condition. Children with Kabuki syndrome usually have distinctive facial features, mild to moderate mental impairment and growth problems.

Is Noonan syndrome a form of autism?

ASD & Noonan Syndrome
There is a 15-30% prevalence of autism in NS. This is not surprising given genome analysis has shown the RAS/MAPK pathway is involved in autism and mutations in this pathway are responsible for Noonan Syndrome. This is significantly higher incidence of ASD than in the non-NS population (1.5%).

How much is ELAPRASE?

Shire Pharmaceuticals’ Elaprase ($375,000 per year) treats an ultra-rare metabolic disorder called Hunter’s syndrome.

What is the life expectancy of a person with Hunter syndrome?

The life expectancy the person with Hunter syndrome is reduced and ranges from about 10 to 20 years of age. However, with mild disease, some individuals live into adulthood. Obstruction of breathing or heart disease are the major causes of death.

What are some treatments for Hunter syndrome?

Emerging treatments

  • Enzyme therapy. This Food and Drug Administration-approved treatment uses man-made or genetically engineered enzymes to replace your child’s missing or defective enzymes and ease the disease symptoms.
  • Stem cell transplant.
  • Gene therapy.

Can you live a normal life with Pompe disease?

Life Expectancy in Late-Onset Pompe Disease
Patients with LOPD experience muscle weakness and respiratory difficulties. If the condition starts in childhood, patients may survive up to the age of 30 years; if it starts in adulthood, they can live to 50 years of age.

How do people get Pompe?

Pompe disease is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease.

Which diseases can be treated with enzyme therapy?

The most common conditions treated by ERT are lysosomal storage diseases (LSDs).

Pompe Disease

  • Poor muscle development.
  • Trouble eating, breathing, and/or hearing.
  • Respiratory problems.
  • Enlarged liver and/or heart.
  • Problems with motor function.

What are the side effects of enzyme replacement therapy?

The most frequent of the infusion-related symptoms were rigors, flushing, pyrexia, dyspnoea, headache and nausea. These reactions occurred initially within the first 1–4 months of the start of treatment.

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