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Y a t il des enfants ou adultes atteint de cystinose qui on déjà fait des hémorragie intestinale ? ...

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#CystinosisResearchUpdate: Bone marrow stem cells hold the promise of a cure for cystinosis. Dr. Stéphanie Cherqui’s work is our hope – not only has the treatment reversed cystinosis in mice, last year she successfully cured corneal cystinosis in the mouse model as well as thyroid dysfunction after a single stem cell transplantation.

Dr. Cherqui, of UC San Diego Health, continues to work with the FDA on the safety studies for this approach to obtain FDA approval for a Phase I clinical trial for cystinosis. These studies are conducted in mice but she is also using patients’ stem cells. In fact, the strategy is to use patients’ own stem cells and then to gene-correct them to introduce a functional CTNS gene before transplanting them back in the patients. This approach, called autologous transplantation, is safer than using foreign stem cells, but requires optimization of the gene correction step.

We are grateful to the many volunteers with cystinosis who have donated their blood for this study so that Dr. Cherqui’s group can determine the most efficient protocol to obtain corrected stem cells. We are optimistic that the FDA will authorize us to commence the first autologous stem cell and gene therapy clinical trial in 2017.

#TogetherWeAreOne #ResearchIsOurHope #CureCystinosis
...

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Just wandering who is linked up to ndis (national disability insurance scheme) in their state ? If so what are they helping you with? ...

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Update from USA.

#CystinosisResearchUpdate: Bone marrow stem cells hold the promise of a cure for cystinosis. Dr. Stéphanie Cherqui’s work is our hope – not only has the treatment reversed cystinosis in mice, last year she successfully cured corneal cystinosis in the mouse model as well as thyroid dysfunction after a single stem cell transplantation.

Dr. Cherqui, of UC San Diego Health, continues to work with the FDA on the safety studies for this approach to obtain FDA approval for a Phase I clinical trial for cystinosis. These studies are conducted in mice but she is also using patients’ stem cells. In fact, the strategy is to use patients’ own stem cells and then to gene-correct them to introduce a functional CTNS gene before transplanting them back in the patients. This approach, called autologous transplantation, is safer than using foreign stem cells, but requires optimization of the gene correction step.

We are grateful to the many volunteers with cystinosis who have donated their blood for this study so that Dr. Cherqui’s group can determine the most efficient protocol to obtain corrected stem cells. We are optimistic that the FDA will authorize us to commence the first autologous stem cell and gene therapy clinical trial in 2017.

#TogetherWeAreOne #ResearchIsOurHope #CureCystinosis
...

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An interesting link to an article about Gabbie (a little girl with Cystinosis) and her families work to raise awareness and find a cure.

http://www.parentdish.ca/2015/01/26/cystinosis-gabbie-wish/