Informations NPSuisse is interested in news to NPC. But NPSuisse also follows up actively topics related to rare diseases. Here you will find current articles and links.
2013, November 17th: Thinking About Experimental Therapies The American Niemann-Pick organization NNPDF created a page to provide information for those who are thinking about participating in experimental therapies. More informations.
2013, November 16th: A Desperate Fight to Save Kids & Change Science (Wallstreet Journal) In the online edition of the Wall Street Journal appeared a very detailed report about Niemann Pick disease type C and the potential therapy with cyclodextrin. Link to the article.
2013, Octobre 23th: NIH Update on NPC Cyclodextrin Clinical Trial We are happy to share with the NPD community that the NIH/TRND Cyclodextrin in NPC1 trial has been restarted. Despite the Federal Government shutdown from October 1-16, the team was able to meet the projected re-start date in late September, and to date have coordinated three successful admissions on this protocol. More informations.
2013, July 31th: NPSuisse on Re(act)-Congress 2014 NPSuisse has organized a workshop on the International Congress on research of rare diseases on 5.-8. March 2014. It is about the genetics of neurocognitive disorders. Details can be found here.
2013, April 19th: Orphazyme announces proposed clinical trial of rhHSP70 for NPC Orphazyme, a Danish biotech company, announced its intention to conduct a trial of rhHSP70 as a therapeutic intervention in NPC disease, at a scientific conference in Italy this week (15th-19th April 2013). Orphazyme has provided information for patients and families which will be generally available through patient organisations across the world. This information has been issued on the understanding that much has still to be confirmed / agreed by the regulatory authorities, so please be aware that some of the details may change. In order to facilitate communication further, Orphazyme intends to launch a web page for the trial and to include a “Frequently Asked Questions” section on the page. As soon as this information is available, we will share it with you. Further information about Orphazyme can be found on their website: http://www.orphazyme.com. If you would like to discuss this announcement, please contact: Jim Green, firstname.lastname@example.org.
2013, April 2nd: "Old drug offers new hope against rare, deadly childhood disease" Washington University School of Medicine in St. Louis is playing a leading role in one of the National Institutes of Health’s (NIH) first clinical trials to improve treatments for rare and neglected diseases. More informations.
2013, March 28th: Possible enzyme replacement therapy for NPA and NPB Genzyme, a Sanofi company, is continuing its efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). The potential treatment is the enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM); it is being evaluated for the treatment of the non-neurological manifestations of ASMD. More informations.
2013, January 23th: Cyclodextrin trial at the NIH launched The National Institutes of Health NIH launched today the study with the drug cyclodextrin - a promising study for all patients with Niemann-Pick C. More informations.
2012, November 15th: Cyclodextrin trial at the National Institutes of Health There are news about the status of of the cyclodextrin trial at the National Institutes of Health in Washington. More.
2012, October 21th: Loire Valley Meeting 2012 in Huisseau sur Cosson (F) Invited by INPDA (International Niemann Pick disease association) 15 leading fundamental scientists from Europe and North America came together during a weekend in October. The idea of the Loire Valley Meeting 2012 was to provide an opportunity for free and open discussion on fundamental research and scientific cooperation in order to enhance progress in NP-C disease treatments. The results are not yet published (factsheet, short conclusion).
2012, October 12th: Newborn screening for lysosomal diseases Current status and potential interface with population medical genetics in Latin America. More.
2012, Octobre 12th: 2012 Report Rare Disease of the European Union 2012 report on the state of the art of rare disease activities in Europe of the European Union Comittee of experts on rare diseases - state of the art of rare disease in Switzerland. The whole report.
2012, October 1st: Planned Phase I Study of Cyclodextrin (HP-β-CD) for NPC1 Disease The National Institutes of Health Therapeutics for Rare and Neglected ~ Niemann-Pick Disease Type C team has continued to move forward in the preparation of the Phase I Study of Cyclodextrin (HP-b-CD) for NPC1 Disease. The goal of the NIH/TRND NPC team is to collaboratively develop a safe, effective and FDA-approved therapy for patients with NPC1. The protocol has undergone ethics review by the National Institute of Child Health and Human Development (NICHD) Institutional Review Board (IRB) and they requested only minor changes. Currently we are expecting to submit an Investigational New Drug (IND) application to the Food and Drug Administration (FDA) before the end of 2012. To date, our major issue has been completing the juvenile dog study that the FDA has requested. If no problems are encountered with the IND, we are anticipating that the clinical trial will start in January. The goal of this Phase 1 trial is to establish safe and biochemically effective dosing regimen for HP-b-CD treatment of human NPC1 subjects. To attain this we are using a systematic, controlled, and scientifically rigorous approach. HP-b-CD will be given by intracerebroventricular (ICV) administration via an Ommaya reservoir. This dose escalation study will include 9 patients divided in 3 dosing cohorts. The study is designed to determine the best benefit-risk profile, determine whether dose or time of treatment is most important in NPC and to avoid giving suboptimal doses. Information of the eligibility criteria will be available once the protocol is approved. If a safe and biochemically effective dose is determined in this Phase I study, we plan to move forward with a Phase II, multi-center trial to evaluate for efficacy. Planning for this trial is already in progress.
2012, September 17th: Amyloid-β metabolism in NPC models and patients Very important paper on NPC and Cyclodextrin and it shows a relationship between NPC and Alzheimer's. More.
2012, September 1st: French study about the effect of miglustat Data on all paediatric NP-C patients treated with miglustat in France between October 2006 and December 2010 were compiled. All patients had a confirmed diagnosis of NP-C, and received miglustat therapy according to manufacturer's recommendations. Pre-treatment and follow-up assessments were conducted according to a standardized protocol. More.
2012, August 30th: Fundamental Diseases - Nick Sireau at TEDxImperialCollege Nick Sireau is the father of two boys with Alkaptonuria, an ultra rare genetic disease also called Black Bone Disease. Nick has built an international consortium of hospitals, patient groups, universities, pharmaceutical and biotech companies for a major clinical trial for a promising new treatment. His talk demonstrates why many rare diseases are fundamental to understanding common diseases.
2012, June 20th: "Hempel Twins Fight for Life" (News 4) Greg Crawford, Dean of the College of Science at the University of Notre Dame, is riding his bike across the country in a "Road to Discovery" to raise awareness about the rare childhood disease Niemann Pick Type C (NPC). On Tuesday, Crawford made a stop in Carson City to meet the Hempel family from Reno. Chris and Hugh Hempel's twin daughters, Addi and Cassi, were diagnosed with NPC in October 2007 at four years old.
2012, May 1st: Loire Valley Meeting 2012 in Huisseau sur Cosson (F)
Invited by NPSuisse and Selbsthilfegruppe Germany twelve scientists from Europe and two experts from the States are going to meet together during a weekend in October. The idea of the Loire Valley Meeting 2012 is to provide an opportunity for free and open discussion on fundamental research and scientific cooperation in order to enhance progress in NP-C disease treatments.
2012, March 23th: The Poincilit Story - Life after NP-C Diagnosis The second short film about the family Poincilit from Unterägeri in Switzerland. All three children have the rare disease NPC. Director Michael Werder has filmed the life of the family after diagnosis in an impressive way.
2012, March 10th: Annual report of the president When creating our association in January 2011 our board decided to commit ourselves in some important projects: development of a national activity as well as an international presence, an economical information campaign, a documentary film on Niemann-Pick type C, etc. After one year we can say that we are proud on what has been accomplished. Annual report 2011
2012, February 29th: One woman's story of coping with a rare disease (WRS) A rare disease is defined as one that affects one in 2,000 people. Genetic in origin, there might be as many as 8,000 of these types of illness. The sad fact is that at least 95 percent of them do not have an effective treatment. At the Novartis campus in Basel a congress on rare diseases is taking place today. The whole story.
2012, February 24th: What is it like to be diagnosed with a rare disease? (www.zug4you.ch) It must be devastating for anyone to be told they have a rare disease, but instead of resigning herself to her fate, 18-year-old Iliana Mebert's positive approach has meant she has not just been able to come to terms with her own problems but also help others suffering from rare conditions, not least by writing a prolific dissertation for her school-leaving certificate. The whole story.