Nathan was diagnosed a year ago today.
We are so grateful that you continue to check the website and we wish we were better at posting updates, but we have been so busy advocating and caring for the boys. We hope you will help us do the same.
Nathan can no longer sit up on his own and it is heartbreaking. We need to get him help quickly. We keep him as active as possible; he swims everyday and kicks around the pool wearing his floaties and fins. When he swims, his face lights up and he is so happy. He also walks on a weight-bearing treadmill device to maintain the motor skill and keep his leg muscles in tact. Exercise is critical to the brain so we make it a point to keep him moving.
On the other hand, Dillon does not stop moving. He is incredibly active, started walking at 13-months and he does not stop…he has a wonderful sense of humor and loves his brother more than anything. His main objective is to give Nathan as many kisses as he can. However, he still does not have any words and is exhibiting the same signs as Nathan at his age – he says “da” for just about everything.
Ataluren (aka PTC-124)
When we returned from Korea, we had Nathan’s Hex-A protein levels checked. Unfortunately they did not change. During the same visit our doctor at Cedars told us about an investigational drug called Ataluren (aka PTC-124). We hope this drug can stop the progression of the disease.
PTC Therapeutics, based in New Jersey, has developed Ataluren which is currently in clinical trials for the treatment of two different diseases, (Cystic Fibrosis and Duchenne’s Muscular Dystrophy), that are both caused by a particular and very rare type of genetic mutation, a nonsense mutation. A nonsense mutation in a gene causes a premature termination codon, which prematurely halts the synthesis of a critical protein; the boys are not able to produce Hex-A properly. This particular drug is not disease specific and Nathan and Dillon have exactly the type of mutation this medicine addresses.
We need access to the drug to save their lives and the Company has refused to help us. We have made several requests to the Company asking them for a sample to test in the lab on Nathan’s cells to see if it is a viable treatment option. PTC Therapeutics has refused each request, stating that they are determining the long-term safety of the drug via the current clinical trials. The long-term safety of Tay- Sachs disease is certain death. This response is irresponsible and unacceptable. We have also contacted the FDA to request assistance to obtain the drug but have been told that there is nothing that can be done if the Company refuses to provide it to us.
PTC Therapeutics states that they have cataloged over 2400 genetic diseases that can potentially be cured by Ataluren. The drug is novel in its ability to address a particular mutation and as such, the FDA has granted Ataluren Subpart E designation for expedited development, evaluation, and marketing and has been granted Orphan Drug designation.
The clinical trials have proven that the drug is effective and very easily tolerated.
We contacted chemistry labs in China and Russia to obtain samples of the drug, however, we do not believe these samples are active and they are certainly not safe for human consumption.
The current clinical trial of Ataluren will end in 2009 with results expected to be announced in the first half of 2010. Once approved by the FDA, any drug can be used off-label with a prescription.
Association Nathan & Dillon
In France, Sebastian’s mother, Marielle Robaut, has created the Nathan & Dillon Foundation, a nonprofit organization dedicated to providing moral and financial support to her grand children’s plight. Thanks to the generous contribution of drawings, paintings, and photographs by such prestigious artists as choreographer Carolyn Carlson, fashion designers Karl Lagerfeld, Christian Lacroix and Jean-Paul Gaultier, photographers Paolo Roversi and Giovanni Gastel, the Foundation mounted a benefit art exhibition and sale in Paris on July 3.
Our heartfelt thanks go out to the Foundation and its extraordinarily hard-working volunteers for bringing such an ambitious project to fruition. We are especially grateful to the more than 80 artists who so generously donated their work in support of our cause, and to the numerous exhibition visitors and foundation members for their financial support.
Gene Therapy
The science of gene therapy has been advancing very quickly over the past five years. The concept of using gene therapy to treat Tay-Sachs disease is to use molecular vectors to transport one or more therapeutic genes into diseased cells in the brain. Once inside the cells those vectors will direct the production of large amounts of normal Hex-A enzyme, which will be distributed throughout the entire brain. This will lead to elimination of lysosomal storage in the brain, and possibly reversal of deficits and resumption of normal neurological development.
Tay-Sachs disease is an excellent candidate for gene therapy because:
Tay-Sachs is caused by mutations in a single gene (the Hex-A gene). Therefore, only the activity of one enzyme needs to be restored.
Cells have the ability to take Hex-A from outside the cell and absorb it. If Hex-A ican be created in the brain, the cells are adept at picking it up and using it.
Gene therapy research is currently being conducted by two groups, the Tay-Sachs Gene Therapy Consortium and by Dr. Chester Whitley from the University of Minnesota.
The Consortium is composed of researchers from six highly regarded academic institutions (Auburn University, Boston College, Cambridge University, NYU and Massachusetts General Hospital/Harvard Medical School). Their work as individual scientists has focused on lysosomal storage diseases affecting the brain. These researchers have combined their expertise with the goal of initiating a gene therapy clinical trial for Tay-Sachs disease (and Sandhoff disease) by June 2012 or sooner.
On August 20, 2009 the National Institutes of Health awarded the Tay-Sachs Gene Therapy Consortium a four year $3.5 million grant. They are currently working on animal models, vector systems, delivery methods, and determining the best timing for intervention. This first year of research produced unbelievable success in small animal models and vector distribution throughout the brain. The second year of research focused on large animal models. There are naturally occurring models in both cat and sheep populations. If we can save these animals the research should transfer to human clinical trials. In year 3 of 4 (depending on success with large animal models) the Consortium will be preparing a clinical trial protocol and seek approval from regulatory agencies in the US (FDA) and UK.
Dr. Whitley, PhD., M.D. is the Director of the Gene Therapy Center at the University of Minnesota and his specialties include Clinical Biochemical Genetics, Clinical Genetics, and Pediatric Medical Genetics. Dr. Whitley has conducted multiple clinical trials and is hopeful that a clinical trial for gene therapy for Tay-Sachs will begin in 2010. We met with Dr. Whitley in October to discuss his plans and to introduce him to the boys. As we have learned, it is wonderful to get face time with doctors and researchers because they remember that they are dealing and developing cures for real people. He told us the visit truly motivated him. We will do whatever we can to get these trials started.
