More information about the inclusion and exclusion criteria and contact information here:

http://www.clinicaltrials.gov/ct2/show/NCT01155778?term=MPS+III+A&rank=1.

Patients with MPS IIIa wanted for trial is a post from livingwithhunter.web-log.nl.

Human GALNS was bioengineered with the N-terminus extended by the hexaglutamate sequence (E6) to improve targeting to bone (E6-GALNS).

We initially assessed blood clearance and tissue distribution. Next, to assess the effectiveness of storage clearance and reversal of pathological phenotype, a dose of 250 U/g of enzyme was given weekly to Morquio A mice (adults: 12 or 24 weeks, newborn: 8 weeks). Sulfatase modifier factor 1 (SUMF1) was co-transfected to activate the enzyme fully. The E6-GALNS tagged enzyme had markedly prolonged clearance from circulation, giving over 20 times exposure time in blood, compared to untagged enzyme.

The tagged enzyme was retained longer in bone, with residual enzyme activity demonstrable at 48 hours after infusion. The pathological findings in adult mice treated with tagged enzyme showed substantial clearance of the storage materials in bone, bone marrow, and heart valves, especially after 24 weekly infusions. Mice treated from the newborn period showed marked reduction of storage materials in tissues investigated.

These findings indicate the feasibility of using tagged enzyme to enhance delivery and pathological effectiveness in Morquio A mice.

source: http://www.ncbi.nlm.nih.gov/pubmed/20332769?dopt=Abstract

ERT drug delivery enhanced is a post from livingwithhunter.web-log.nl.

Happy 13th birthday Kariem! is a post from livingwithhunter.web-log.nl.

The goal of this program is to evaluate the feasibility of using lentiviral vectors to restore the missing gene in patient’s cells and return the cells back to the patient. The specific research that will be conducted under this grant will use a mouse model of MPS II created in the laboratory of Dr. Joseph Muenzer, University of North Carolina, to establish and test conditions for introduction of the correcting gene and its effectiveness when reintroduced into the animals.

more info: http://www.lentigen.com

Phase I Gene Therapy for Hunter Syndrome is a post from livingwithhunter.web-log.nl.

Wipas Raksakulthai (age 37) said he didn’t insult the king. The police didn’t say what he wrote.

Insulting the king and his family is one of the worst crimes and often results in long prison sentences. The high aged Bhumibol is accorded God-like status among the Thai people.

I just wonder how any man or family allows oneself to be revered like God on earth. I hate to tell you this, but gods don’t poop and pee like men. This particular family even carries a MPS disorder gene. I don’t think gods are ever in need for diapers, medicine or feeding tubes!

For this reason alone Raksakulthai should be released.

King Bhumibol should use his God-given position to raise MPS awareness rather than having people worship him.

Just my opinion… dunno…

Gods don’t have MPS! is a post from livingwithhunter.web-log.nl.

Kemuel has Hunter syndrome (MPS II), but Chile does not want pay for Elaprase, a drug needed to treat him and the other 13 patients in that country.

Miguel and Kemuel set of on a journey to find treatment somewhere in South America. On April 24th they left Arica (Chile). Having gone through Bolivia and Argentina, their journey took them to Porto Alegre in Brazil; the most important research center for MPS in the area.

Miguel and Kemuel crossing the Bermejo river that seperates Bolivia from Argentina

Tucuman, Argentina

the hospital in Porto Alegra, Brazil

Please, pray for this brave family. Follow their footsteps on La Ruta de Kemuel.

Kemuel’s journey is a post from livingwithhunter.web-log.nl.

MPS III (Sanfilippo) trial in the Netherlands? is a post from livingwithhunter.web-log.nl.

You are in our prayers Miguel!

Miguel’s hunger strike (update) is a post from livingwithhunter.web-log.nl.

A gender test is useful for detecting congenital gender-related disorders.

Researchers from Sanquin in Amsterdam published the test in Obstretics an Gynecology.

source: nrc.next

Gender determination possible after 7 weeks is a post from livingwithhunter.web-log.nl.

"We have investigated RNA interference (RNAi) as a method of targeting SDT to the HS synthesising enzymes, EXTL2 and EXTL3. Multiple shRNA molecules specific to EXTL2 or EXTL3 were designed and validated in a reporter gene assay, with four out of six shRNA constructs reducing expression by over 90%. The three EXTL2-specific shRNA constructs reduced endogenous target gene expression by 68, 32 and 65%, and decreased gag synthesis by 46, 50 and 27%. One EXTL3-specific shRNA construct reduced endogenous target gene expression by 14% and gag synthesis by 39%. Lysosomal gag levels in MPS IIIA and MPS I fibroblasts were also reduced by EXTL2 and EXTL3-specific shRNA. Incorporation of shRNAs into a lentiviral expression system reduced gene expression, and one EXTL2-specific shRNA reduced gag synthesis," wrote X. Kaidonis and colleagues.

The researchers concluded: "These results indicate that deprivation therapy through shRNA-mediated RNAi has potential as a therapy for HS-storing MPSs."

Kaidonis and colleagues published their study in European Journal of Human Genetics (Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses. European Journal of Human Genetics, 2010;18(2):194-9).

For additional information, contact X. Kaidonis, SA Pathology (WCH site), Dept. of Genetics and Molecular Pathology, North Adelaide, South Australia, Australia. The publisher’s contact information for the European Journal of Human Genetics is: Nature Publishing Group, 345 Park Avenue South, New York, NY 10010-1707, USA.

Findings from X. Kaidonis and co-researchers advance knowledge in mucopolysaccharidoses therapy is a post from livingwithhunter.web-log.nl.