TOWARD DEVELOPMENT OF TREATMENT FOR MORQUIO PATIENTS

Dear parents,

My name is Shunji Tomatsu, Assistant Professor of Department of Biochemistry and Molecular biology, St. Louis University, School of Medicine. I have been working for 10 years with Morquio disease (mucopolysaccharidosis IVA) in Japan, and United States. And we achieved a lot of things from purification of deficient enzyme, cloning of the Morquio gene and genetic diagnosis and now we are making mice model of Morquio disease and developing a new treatment. Our goal is to cure affected patients with Morquio disease and to prevent from progress of disease. Recent advanced technology made it possible to cure patients who have a rare inherited metabolic disease; for example, Gaucher disease, Mucopolysaccharidosis type I (Hurler, Hurler/Scheie, Scheie). And recently one group (see other paper) presented treatment of Hurler syndrome (MPS I) at last ASHG (American Society of Human Genetics) meeting at the end of October. It was really an exciting report for us scientists because of knowing improvement of clinical manifestations in MPS I patients. Enzyme replacement therapy (not gene therapy) has been first given to Gaucher disease patients (one of the lysosomal diseases) and this treatment contributed to curing this disorder greatly without severe side effect in many patients. This time ten MPS I patients have been treated by the same enzyme replacement therapy and no doubt treatment is quite effective improving the patient’s quality of life dramatically. Under these circumstances, we had a contact with two commercial companies who had the capability to produce mass productive Morquio enzyme. Although both companies have interest to cooperate with our group, other scientists groups who have been interested in another different enzyme replacement therapy also had contact with the same companies to produce another enzyme. That means the company will decide what is the next target disease to be treated by enzyme replacement therapy from various points of view. According to our understanding, there seems to be several critical factors to become the final candidate for Morquio enzyme: cost performance, feasibility to handle enzyme, ease to purify enzyme, the correct number of patients (especially in the United States and Canada because both companies are here in the United States), scientific achievements and the patients’ present status. Shortly, in addition to Morquio disease, there are number of candidate diseases which are curable by the same treatment and the company would select which is the best and first disease to be cured by some considerations. So to be selected by the company as the first choice, we have to do our best and cooperate.

Thus, I would like to announce recent advanced treatment of inherited metabolic diseases to you, parents ASAP after meeting because we have to get the possibility to develop enzyme replacement therapy with one of the potential companies cooperatively. At the same time we are trying to make mice model of Morquio since we have to challenge affected mice treatment using enzyme replacement therapy before clinical trial to human being. We are also developing gene therapy as a next generation treatment with Italian group.

To make strong progress toward treatment of Morquio patients, we have to unite together and act effectively and cooperatively to make the company start to produce massive enzyme. I already have a lot of scientists’ net work over the world on 180 Morquio patients, however we have little communication with actual patients’ and their parents’group especially in the United States and Canada so far. If you understand my explanation about present status on Morquio disease and advanced treatment on inherited metabolic diseases, I really appreciate that. And as a first step I have to have a hard negotiation with the company and to collect our scientific data, progress and the patients’ information (the company sometimes needs the marketing research as an information of each of your affected children such as name , address, clinical course, present status, sex and so on immediately to summarize Morquio patients in the United States and Canada. I send a questionnaire and abstract of the presentation on Hurler patient’s treatment.

First of all, please send back to me your answers to my questionnaire ASAP.

And so please let me know without hesitation if you need my help or have a question on this matter. I believe we should get a great progress on this issue for the next year.

 

Sincerely yours,

 

Shunji Tomatsu
Assistant Professor
Department of Biochemistry
And Molecular biology,
St. Louis University
School of Medicine
St. Louis, MO 63104
FAX: 1-314-776-1183

e-mail: tomatsus@wpogate.slu.edu

Email me!
sackrison@aol.com