Can ex vivo gene therapy treat familial hypercholesterolemia?

Can ex vivo gene therapy treat familial hypercholesterolemia?

An ex vivo approach to gene therapy for familial hypercholesterolaemia (FH) has been developed in which the recipient is transplanted with autologous hepatocytes that are genetically corrected with recombinant retroviruses carrying the LDL receptor.

Can familial hypercholesterolemia be treated with gene therapy?

Liver directed gene therapy for FH The homozygous form of FH would be an excellent candidate for gene therapy since the plasma lipid profile, total cholesterol, LDL-C, HDL-C and LDL/HDL ratio, can be measured providing a convenient clinical endpoint to evaluate the response to therapy [71,72].

WHO criteria FH?

According to this criterion, definite FH is defined as: total cholesterol higher than 6.7 mmol/L or LDL-C greater than 4.0 mmol/L in a child whose aged under 16 years or total cholesterol greater than 7.5 mmol/L or LDL-C higher than 4.9 mmol/L in an adult (levels either pre-treatment or highest on treatment).

What are treatment options for family members with FH?

The most common treatment for FH is statin drug therapy. Statin drugs work by blocking an enzyme that produces cholesterol in the liver and increases your body’s ability to remove cholesterol from the blood. They can lower your LDL cholesterol levels by 50 percent or more.

How can gene therapy cure hypercholesterolemia?

LDL receptor (LDLr) deficiency is the most prevalent cause of FH. Therefore, hepatocyte-directed LDLr gene transfer constitutes an important strategy for the treatment of this monogenetic disease. Nowadays, homozygous FH patients are treated with lipid-lowering drugs complemented by plasma or LDL apheresis.

Which human disorder is being treated with gene therapy?

Gene therapy holds promise for treating a wide range of diseases, such as cancer, cystic fibrosis, heart disease, diabetes, hemophilia and AIDS. Researchers are still studying how and when to use gene therapy.

Does gene therapy treat LDL receptor deficiency?

Gene therapy using safe vectors to deliver functioning LDL receptors offers the possibility of stable, long-term correction of the fundamental defect in HoFH.

Which cell type would be a direct target for gene therapy?

Gene therapy has the potential to target cancer cells while sparing normal tissues.

What is the minimum age for screening of FH?

The American Academy of Pediatrics recommends universal screening at age 9–11 years with an aim of identifying not only FH, but also other lipid disorders [30]

Is there a genetic test for familial hypercholesterolemia?

Genetic testing for familial hypercholesterolemia (FH) looks for inherited genetic changes in three different genes (LDLR, APOB, and PCSK9) known to cause FH. If your doctor suspects that you have FH or a family member has been diagnosed with FH, your doctor may refer you for genetic counseling and testing for FH.

What is the best statin for familial hypercholesterolemia?

Rosuvastatin has the strongest lipid-lowering potential of all the statins currently available. It is indicated for adults with primary hyperlipidemia and mixed dyslipidemia, homozygous FH, primary dysbetalipoproteinemia, and hypertriglyceridemia.

Which chromosome is affected in familial hypercholesterolemia?

Familial hypercholesterolemia is a defect on chromosome 19. It is inherited as an autosomal dominant trait, which means that you only need to get the abnormal gene from one parent to inherit familial hypercholesterolemia.

Is the FH gene dominant or recessive?

Familial hypercholesterolemia (FH; OMIM ID-143890) is an autosomal dominant inherited disease, the cause of which is most often a variant in the gene for the LDL receptor (LDLR), less often a variant in the gene for its ligand, apolipoprotein B 100 (APOB).

Which is an example of ex vivo gene therapy?

Ex vivo gene therapy is most often used in blood-related disorders. This includes certain cancers — such as specific types of leukemia and lymphoma — and genetic disorders. FDA-approved ex vivo gene therapies include Tecartus (brexucabtagene) and Zynlonta (loncastuximab tesirine). Both treat types of lymphomas.

What is the average cholesterol level for someone with FH?

Patients with heterozygous FH can have total cholesterol levels in the 350-550 mg/dL range. Patients with homozygous FH have total cholesterol levels in the 650-1,000 mg/dL range. In most of these cases, the high density lipoprotein cholesterol (HDL-C) and triglyceride levels are relatively normal.

What is the life expectancy of someone with familial hypercholesterolemia?

A: Without treatment, the life expectancy of those with familial hypercholesterolemia can be reduced by approximately 15-30 years. However, in people with homozygous familial hypercholesterolemia, the life expectancy may only be 20 years or less.

How much does genetic testing for FH cost?

2.4. Costs

Test or Office Visit	Cost in 2018 U.S. Dollars	Proportion Receiving
Empty Cell
FH Genetic Test*	$250.00	100%
Lipid Panel	$26.46	100%
ECG	$25.84	100%

How much is genetic testing for familial hypercholesterolemia?

For example, Athena’s LDLR test costs $1,235, the APOB test is $620, and the hypercholesterolemia evaluation, which combines the LDLR and APOB tests, is priced at $1,485. These prices may be reasonable for genetic tests but are unnecessary cost for FH, says Hopkins.