Topics of the Week - Archive
June 29, 2007
Thought of the Week
It is difficult to say what is impossible, for the dream of yesterday is the hope of today and the reality of tomorrow.
-- Robert H. Goddard
Summing up the Research Development of NTSAD's 2007 Fiscal Year
This has truly been a very exciting year for the development of potential therapeutic approaches for the lysosomal storage diseases!
- Researchers at the University of Minnesota published a p aper in Nature Bone Marrow Transplantation demonstrating that N -acetly- L -cysteine (NAC) increases the chance of success bone marrow transplantation (BMT) in advanced Adrenoleukodystrophy. With this new insight into BMT the physicians at the U of MN felt it was time to try the new protocol in other allied diseases. Krystie Karl-Steiger is 17 months old and affected by Tay-Sachs. Krystie is currently 37 days post transplant and doing relatively well. Follow her progress at http://www.caringbridge.com/visit/krystie .
- Simplified: After success with a less toxic protocol for bone marrow transplant in Adrenoleukodystrophy cases, it is now being tried in an Infantile Tay-Sachs case.
- Simplified: After success with a less toxic protocol for bone marrow transplant in Adrenoleukodystrophy cases, it is now being tried in an Infantile Tay-Sachs case.
- In March a breakthrough paper was published in Nature Medicine on the multiple mechanisms which stem cells act to benefit mice with Sandhoff disease. This paper was the result of an international collaboration led by Evan Snyder , MD, PhD, and spearheaded by a member of his lab, Jean-Pyo Lee, P.D, of the Burnham Institute for Medical Research (“Burnham”). This study yielded many scientific firsts, including the first successful use of human embryonic stem cells (hESCs) in degenerative disease, significantly preserving function and prolonging life in the Sandhoff mouse model and laying the ground work for a p otential clinical trial, first use of hESCs grown in a manner suitable for clinical use, and the first head-to-head comparison of human embryonic and ‘adult' stem cells in the same disease model using the same metrics in the hands of the same investigators – just to name a few of the first breakthroughs in this paper! The NTSAD Research Initiative is proud to be acknowledged as a supporter of this important work.
- Simplified: Stem cell therapy significantly prolonged life and increased functioning level in mice with Sandhoff disease. It also demonstrated that the therapeutic effects of stem cells act through several different ways.
- Simplified: Stem cell therapy significantly prolonged life and increased functioning level in mice with Sandhoff disease. It also demonstrated that the therapeutic effects of stem cells act through several different ways.
- The past year also brought about in a trans-Atlantic collaboration of a group of dedicated scientists determined to bring gene therapy for Tay-Sachs and Sandhoff to clinical trial in the next three – five years, a very ambitious goal. NTSAD is honored to be valued member of this collaboration and will continue to promote the interests of our membership and all those affected by these diseases. Two Research Initiative Grants was awarded to two very promising researchers who are key members of this group effort.
- Simplified: Successful research comes from collaborations!
- Simplified: Successful research comes from collaborations!
- In April ExSAR Corporation announced that the FDA approved Phase I clinical trials of EX-101 for the potential treatment of Late Onset Tay-Sachs and Sandhoff. EX-101 is a small molecule pharmacological chaperone for Hex-A. Pharmacological chaperones stabilize normal and misfolded (mutant) enzymes and promote trafficking from the endoplasmic reticulum to the target organelle – in this case the lysosome, where Hex A breaks down gangliosides, the fatty substance that accumulates. EX-101 is administered orally and has shown remarkable efficacy in cell-based models of Late Onset Tay-Sachs and Sandhoff. It is already FDA approved for other indications. NTSAD is in close contact with trial sites and will be contacting potential trial participants directly in the near future.
- Simplified: A molecular chaperone increases enzyme activity by binding to the misfolded enzyme and help it fold into the correct shape. EX-101 is believed to have this effect on the Hex-A enzyme.
Please, remember that you can call the office and speak with Diana or Kim with any concerns,
questions or suggestions - our door is always
open!
Diana Pangonis
Interim Executive Director
Diana@ntsad.org
800-906-8723