GDP: Pompe Disease http://www.fightpompe.com/about/21/about-juan - PowerPoint Presentation

Slide1

GDP: Pompe DiseaseSlide2

http://www.fightpompe.com/about/21/about-juanWhat is Pompe Disease? What does it look like?Slide3

http://pompestory.blogspot.com/2009/04/joannes-cassianus-pompe-1901-1945.htmlSlide4

THREE TYPES, but general model: Slide5

SymptomsEarly onsetCardiac and respiratory infections/failure

Other difficulties: Floppiness, inability to gain weight

Death (within 1 year)

Late onset

Skeletal and joint muscles

Difficulty breathingSlide6

Genetic Basis of Pompe DiseasePompe disease is caused by a variety of mutations that occur on the GAA gene (alpha-glucosidase) located on chromosome 17. The

wildtype function of alpha-glucosidase is to cleave alpha glycosidic

linkages between glucose and glycogen. This provides the cell with usable glucose.

Mutations in the gene cause the protein to malfunction, causing decreased or completely eliminated activity. Without functioning alpha

glucosidase

, glycogen builds up in the cells. Overtime, this buildup prevents proper movement and function of muscles. Slide7
Slide8

Optimal TreatmentMyozyme was the first drug developed and is injected intravenously into pompe patients. However, this can often be a frustrating process as the treatment is not a cure and the patients must visit the hospital many times per year. For children, this can heavily interfere with their schoolwork and their self-confidence

. Slide9

Myozyme“Myozyme (alglucosidase

alfa) is a lysosomal glycogen-specific enzyme indicated for use in patients with Pompe disease (GAA deficiency). Myozyme has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control, whereas use of

Myozyme

in

patients with other forms of Pompe disease has not been adequately studied to assure safety and efficacy

.”

Problems

Infusion reactions occurred in 20 of 39 (51%) of patients treated with MYOZYME in clinical

studies

Most patients who develop antibodies do so within the first 3 months of exposureSlide10
Slide11

Reasons for further research…Not 100% effectiveCostSlide12

Research Goal

Main Idea: Reverse Pompe disease before birth through genetic manipulation

Modeled after induced pluripotent stem cells (iPSC)Slide13

Also similar to sickle cell anemia studies

Mice models would be used in early stages of research, with human embryonic cells used in the future if research looks promising for potential medical applicationsSlide14

Steps for Research

Proteins are introduced into infected cells. These proteins cleave gene at specific loci.

Wild-type gene is inserted at cleaved loci.

Cells with the corrected mutation are re-introduced into the organism.

Outline of Potential ResearchSlide15

Three Main Policy Goals:1) Lifting Restriction of Research2) Funding Research3) Educating the Public and Encouraging Genetic TestingSlide16

Lifting Restriction of Research:This goal relates specifically to our research question. We would focus on altering the current restrictions on embryonic research.

Many scientists currently write about the ethical concerns of using embryonic stem cells. The general consensus is usually that human embryos are not conscious and in this way it is no more unethical to work on these embryos than on mice.Slide17

Funding Research:The government should not only lift its restrictions, but also help fund the research or at least promote the research in a positive light so other organizations will fund it.

In addition, the government does not need to fund embryonic research per-say, but research to improve enzyme replacement therapy for example.Even though this requires money, medicine will never progress if we do not invest money into medical/scientific research. We just need to be smart about investing in the area that looks most promising. Slide18

Educating the Public and Encouraging Genetic Testing:The public (especially couples who are considering having children) need to educated about Pompe

Disease by their physicians.Part of the education process is to let them know about genetic testing for Pompe Disease and encourage couples who may have high risk of being carriers to get themselves tested.

This

will let couples know if they are actual carriers of the mutant allele, which will allow them to make a more informed decision, whether it is getting their child tested, or preparing themselves for facing the disease in the future (if they happen to have it).Slide19

http://www.5min.com/Video/The-Effects-of-Pompe-Disease-326730554