May 30 2007

RE: MPS IVA (Morquio) Project

Dear ALL Morquio Families and Friends,

I hope that all Morquio families are going well.

We have around 350 Morquio families registered into our international registry program (www.morquio.com). It is tremendous contribution from all Morquio families in the world. We hope that we can announce the schedule of the clinical programs for Morquio very soon. Currently Vivendy/Inotech (Basel, Switzerland) and our group are working very hard togther to achieve the goal.
Thanks again for your great interest and contribution on Morquio Project. We are very thrilled to meet Morquio families in the next events!

 

1. SF, CA (June 2: www.morquio.com, www.arianascure.com, www.annunciation.org)

George Kallas
President
Ariana's Cure
www.arianascure.com

2. Seattle, WA (July 1 to 3) Morquio Workshop at Little People of America Annual Meeting (www.morquio.com, Mary Smith)

         Join this meeting! Ask the host in details!

We will have a discussion with an individual family at both family meetings.
The following issues will be presented and discussed.
1. International Morquio A Registry
2. Educational CD for Morquio
3. Murine models for MPS IVA
4. ERT of MPS IVA
5. Question and Answer

We are very pleased to meet as many as Morquio families through the meeting. I am very happy to make a presentation of our Morquio Project to date and to discuss with each individual family. I enclosed the meeting brochure at San Francisco and Little People of America at Seattle.

I also have several similar questions on Morquio as follows:

Q1. How can I tell my child is severe or mild? My affected child is similar to other Morquio kids?

Ans. I enclose the Morquio Registry paper here which over 300 patients have kindly contributed to through the questionnaire. You may see some similarity and difference with your kids. Clinical severity is sometimes difficult to say exactly: at least we nee the information of growth chart, DNA analysis, enzyme assay, and keratan sulfate level.
We are very close to finish “Growth Chart for Morquio Patients” with age. Once it is available, you may compare your kid with other Morquio kids. I will inform you!
Please keep the growth chart record as many as possible since at birth. We will also have more registry and biochemical data to be published. Thanks for your great contribution!

Q2. How important to measure keratan sulfate (KS)?

Ans. KS is sort of sugar chain. Morquio patients can not digest KS therefore, KS is accumulated in the body, especially, in the cartilage (bone) and eye cornea. The stored KS will destroy the cartilage layer (growth plate). Because of that, Morquio patients have a lot of signs and symptoms relate to the bone. It is quite important to know how much KS is elevated in the body (urine and blood). KS level is age-dependent and it is the highest when the kids grow. There two major methods to measure KS quantitively: one is to use antibody against KS and the other one is to use the very modern instrument (so-called, tandem mass spectrometry). Tandem mass spectrometry is very sensitive method and can measure even KS in the mouse.

Q3. When do we have to consider the surgical operation?

Ans. It is hard to predict when the appropriate time is. However, the most important operation is “cervical fusion” to protect against the unstable neck. From the registry data, around 30% of patients who had operations may require it. The average age is around 9 years. Please ask the experienced doctor about the indication.

Q4. Is there any animal model of Morquio? How will you confirm whether any treatment is effective or not prior to human patients?

Ans. So far except human patients we only have three different type of Morquio model mice. No other animal models are known. Generally, we try to treat the animal model prior to human patients. Since there is no animal model except mice, we use Morquio mouse model at this point. Our mouse model has a unique feature to produce inactive human Morquio enzyme. Therefore, we can treat this mouse model continuously for a long term without any problem. Generally, if we infuse the human enzyme into the mouse body, the human enzyme will be neutralized since the mouse recognizes it as a foreign body. We are treating Morquio mice by several different treatment methods to see the effectiveness. The most important issue is how to reach the bone especially, growth plate since the growth plate region does not have vessels.

Scientific papers may be difficult to be understood, but if you have any further specific question, please let me know.

 

Most Sincerely,

Dr. Shunji Tomatsu  and
Dr. Adriana Montano
Department of Pediatrics, Saint Louis University,
Pediatric Research Institute
3662 Park Ave. St. Louis MO 63110-2512
Phone: +1-314-577-5623 ext. 6213
Fax: 314-577-5398
E-mail; tomatsus@slu.edu

　　　    　

  

We have educational CD for Morquio. If you want to know Morquio disease, it will be good educational slides. Please ask The Carol Ann Foundation & International Morquio Organization for this CD. It is completely free of charge! We have this CD for several languages including English, Arabic, Japanese, German, Polish, Spanish etc.

Please kindly look at the following web sites to know the variety of activity by Morquio Foundations and families.

Address for Morquio Foundations:

The Carol Ann Foundation & International Morquio Organization
President Mary Smith

The International Morquio Organization
8164 W. Circulo De Los Morteros
Tuscon, Arizona 85743
Telephone: 520-744-2531
Fax 520-744-2535
www.morquio.com

E-mail: mbs85705@yahoo.com

 

The Bennett Foundation,
President Steve Waters
714 Richmond Street Brunswick, Georgia 31520
(912) 222-1363 or (912) 262-9525
E-mail: swaters@glynn.k12.ga.us

 

Jacob Randall Foundation for Morquio
President Renee Little
12125 Lexington Park Dr. #208
Tampa, FL 33626
Telephone: 813- 731-8274
Website: www.jacobrandallfoundation.com
E-Mail: rjl197@verizon.net

 

Ariana’s Cure Fund for Morquio
President George Kallas
San Francisco CA
Website: www.arianascure.com
E-Mail:  Arianascure@aol.com

 

Danette Baker Website for Morquio Group
Website: www.geocities.com/hotsprings/villa/9405
E-Mail: Morquio@yahoogroups.com

Annabelle Bozarth Website
Stephanie Bozarth
Website:  www.caringbridge.org (under the name BELLE) Go to Journal
E-Mail:  stephbozarth@yahoo.com

 

Sarah Van Orden Website
Ruthann Van Orden
Website:  www.caringbridge.org/visit/sarahvanorden
E-Mail: r_vanorden@yahoo.com

 

Care For Carly Foundation
Carol Ruhnke
Website: www.careforcarly.com
E-mail: info@careforcarly.com

 

Sota Isomoto Website (Japanese)
Saori Isomoto
Website: http://www1.ocn.ne.jp/~morquio/index2.html
E-mail: saori-fanfan.i@docomo.ne.jp

 

Please let me know if you have any own Morquio web site!!!