Monday, September 26, 2016

Multiple sulfatase deficiency

Dylan Finglas is a happy, beautiful little 3 year old boy. Today Dylan smiles, laughs, enjoys playing, interacts, he can feed himself and he is not in any pain nor does he receive any medication. He is beginning to show minor signs of the condition. Without something to stop this devastating illness, most children don’t get to see their 10th birthday. Rapidly in the next few years he will develop breathing difficulties, he will lose his sight, his hearing, the ability to walk, to swallow and his organ functions will deteriorate and eventually fail. Children with MSD would be expected to have severe brain damage by the age of five or six. This tragic outcome is inevitable. It is a 100% certainty unless the treatment is developed for humans. Currently there is no ready cure, nor is there any treatment to slow the condition. It’s any parent’s worst nightmare to have to watch their innocent child’s health and wellbeing deteriorate.

Gene therapy at The Telethon Institute of Genetics & Medicine in Italy has successfully stopped MSD in lab tests. Unfortunately the positive research results have stopped there. Funding is critical and urgently needed to push clinical advancements to human stages as soon as possible. Every donation counts in our goal to save Dylan and all children with MSD throughout the world. Time is of the essence in order to treat these children before significant symptoms of the condition progress. Months, weeks, and days matter… Your help spreading the word and donating will help ensure the cure is produced for all affected patients. Please give these children a chance at life.



  1. Spampanato C, De Leonibus E, Dama P, Gargiulo A, Fraldi A, Sorrentino NC, Russo F, Nusco E, Auricchio A, Surace EM, Ballabio A. Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder. Mol Ther. 2011 May;19(5):860-9.

    Multiple sulfatase deficiency (MSD), a severe autosomal recessive disease is caused by mutations in the sulfatase modifying factor 1 gene (Sumf1). We have previously shown that in the Sumf1 knockout mouse model (Sumf1(-/-)) sulfatase activities are completely absent and, similarly to MSD patients, this mouse model displays growth retardation and early mortality. The severity of the phenotype makes MSD unsuitable to be treated by enzyme replacement or bone marrow transplantation, hence the importance of testing the efficacy of novel treatment strategies. Here we show that recombinant adeno-associated virus serotype 9 (rAAV9) vector injected into the cerebral ventricles of neonatal mice resulted in efficient and widespread transduction of the brain parenchyma. In addition, we compared a combined, intracerebral ventricles and systemic, administration of an rAAV9 vector encoding SUMF1 gene to the single administrations-either directly in brain, or systemic alone -in MSD mice. The combined treatment resulted in the global activation of sulfatases, near-complete clearance of glycosaminoglycans (GAGs) and decrease of inflammation in both the central nervous system (CNS) and visceral organs. Furthermore, behavioral abilities were improved by the combined treatment. These results underscore that the "combined" mode of rAAV9 vector administration is an efficient option for the treatment of severe whole-body disorders.

  2. Although he is unable to talk, walk or even hold a simple object in his undersized hand, Izzy will participate in a research project, which could potentially be the first major step in attempting to procure a cure for the terminal neurological disorder, Multiple Sulfatase Deficiency (MSD), (Click on Link: ), as well as other forms of the homicidal disease, medically referred to as Leukodystrophy. Approximately 18 months ago, Alan Finglas, individual living in Ireland, (Click on Link: ) who noticed my promotion of Izzy's disease to the general public, via the wonderment of social media, contacted me to discuss Izzy’s medical diagnosis, and ominous prognosis. In a subsequent telephone conversation, he indicated to me that his precious son Dylan, slightly younger than Izzy, was also diagnosed with the exceedingly rare MSD form of Leukodystrophy. Alan created the "MSD Action Foundation", in addition to a promotional website, (Click on Link: ), creating further awareness regarding this exceptionally rare disease, in a prudent attempt to raise the much-required funds, to potentially be the impetus to commence medical research, regarding this excessively rare form of a markedly rare disease, which has recorded less than 100 cases worldwide to date. Alan has also reached out, via social media, to the general public, seeking to locate and unite the smattering of families with children suffering from MSD, throughout the world; successfully uniting approximately 25 such heroic families. He has reached out to pharmaceutical companies, regulatory agencies, and a multitude research facilities, including the Children’s Hospital in Philadelphia (CHOP), where he has been in contact with nationally prominent gene therapy expert, Dr. Beverly Davidson, (Click on Link: ), regarding the possibility of her lab pursing research on potential treatments for MSD.

    I am pleased to report, that Dr. Davidson will be leading an research effort, funded by Mr. Finglas's MSD Action Committee, in an attempt to study the potential effects of FDA approved medical drugs, on Induced Pluripotent Stem (IPS) cells (Click on Link: ). Recent studies have demonstrated the ability to reprogram adult fibroblasts into pluripotent stem cells by introducing key factors using viral vector technologies. Such induced pluripotent stem cells (iPS cells) hold much promise for the advancement of stem cell research. Dr. Davidson and Dr. Rebecca Ahrens-Nicklas (Click on Link: ) have committed to undertaking to perform a research project where they screen 2500 FDA approved drugs on MSD cells. CHOP has the capability to create IPS cells from our angelic children’s blood. This is helpful because they can create an unlimited number of cells for testing purposes. Drs. Davidson and Ahrens want to use IPS cells to run the 2500 drug screen study. In order for them to procure blood samples from our heroic children, which will enable them to create the aforementioned IPS cells, they will require blood draws from our human angels, which will be submitted to CHOP. This will to be done in conjunction with our primary pediatrics physicians, and coordinated between them and preeminent doctors at CHOP; who will be willing to create 6 MSD IPS cells so they can run the scan on a variety of the mutations. This will hopefully assist in ensuring that the drugs that come up testing positive, are effective upon multiple mutations. (continued)

  3. (continued)This process has been deemed to be safe, as well as potentially efficacious, as indicated in the following article (Click in Link: ). I frequently scribe about my passionate and unyielding attempt to beseech the benevolent God to perform a miracle that will potentially cure Izzy, as well as similar patients, who are likewise currently suffering from the same debilitative and destructive disease that he is. Miracles can manifest themselves in a multiplicity of manners; including via a gentleman from Ireland, who professionally work in the construction industry, combining forces with preeminent gene therapy researchers in Philadelphia Pennsylvania. I have personally been in contact with my "Team Izzy" senior genetic advisor, Dr. Avi Bitterman, (Click on Link: ), who confidently proclaims that this is the first viable opportunity that he has been made aware of, that could potentially save the lives of MSD inflicted children, perhaps correcting the disease while they are still in utero. While we are a long journey away from the transformation of this hypothesis until its actual realization, it could potentially be the great first step on the most important journey of MSD; the one, which with God's divine assistance, could theoretically save the lives of future generations of MSD inflicted children.

    We are honored to be part of this process, which will enable Izzy to potentially save the lives of others, as we continue to cherish his every day of his most meaningful life.

    From Dr. Davidson’s lab to God’s ears,
    Let’s CHOP MSD

  4. Sulfatases EC are enzymes of the esterase class that catalyze the hydrolysis of sulfate esters. These may be found on a range of substrates, including steroids, carbohydrates and proteins. Sulfate esters may be formed from various alcohols and amines. sulfatase