Sanfilippo Syndrome have you ever heard of it?  Gene Therapy have you ever heard of it? If No, than consider yourselves fortunate. The children and families suffering from rare genetic diseases are not so fortunate.  Parents of terminally ill children love their children everyday as if each day could be their last. Sanfilippo Syndrome is a horrible genetic disease, caused by a gene mutation that stops a specific enzyme from doing it's job. Without the enzyme, children slowly loose all of their skills that they had learned from talking, walking, eating everything goes and they die. Gene Therapy is a treatment that binds a virus to the missing enzyme. The virus delivers the missing enzyme to the children. Sanfilippo Syndrome type C is ultra rare, occurring in 1 in 1.5 million births. Most drug companies don't see the financial value in producing and commercializing a drug for our dying children.  It's up to the parents of Sanfilippo children to fight their fate! Ten years ago a group of foundations across the world found each other and banded together to find and then fund millions of dollars towards research and a treatment for Sanfilippo Syndrome type C.  <a href="http://jonahsjustbegun.org/hands-partners/#iLightbox%5Bgallery1413%5D/null">H.A.N.D.S.</a>  <a href="https://www.ncbi.nlm.nih.gov/pubmed/?term=A+novel+Adeno-associated+virus+capsid+with+enhanced+neurotropism">Our scientists have proof of concept</a>  and we are now ready to manufacture our vector in large quantities so that we can conduct a clinical trial. For this we need your help in funding! Be part of something that you can smile about.  Help our Sanfilippo type C families fund the production of a drug that will halt this disease for many of our surviving  children and save the lives of the next generation to come. Translations: Spanish, German, French and Portuguese below video. <iframe media_type="0" media_id="V8v-U1-SqR8" class="youtube-replace" title="YouTube video player" style="margin-bottom:20px;width:560px;height:315px;" src="//www.youtube.com/embed/V8v-U1-SqR8/?rel=0" frameborder="0" allowfullscreen="1"></iframe> Spanish Síndrome de Sanfilippo ¿has oído hablar de esta enfermedad? Terapia génica ¿Has oído hablar de este tipo de terapia o tratamiento? Si no, entonces considérate afortunado. Los niños y las familias que padecen enfermedades genéticas raras (enfermedades huérfanas) no son tan afortunados. Los padres de niños con enfermedades terminales aman a sus hijos y cada día los tratan como si pudiera ser el último. El síndrome de Sanfilippo es una enfermedad genética horrible, causada por una mutación genética que impide que una enzima específica haga su trabajo. Sin la enzima, los niños pierden lentamente todas sus habilidades aprendidas, como: hablar, caminar, comer, etc, hasta causarles la muerte. La terapia génica es un tratamiento que une un virus a la enzima faltante. El virus entrega la enzima faltante a los niños. El síndrome de Sanfilippo tipo C es extremadamente raro y ocurre en 1 de cada 1.5 millones de nacimientos. La mayoría de las compañías farmacéuticas no ven el valor financiero en la producción y comercialización de un medicamento para nuestros niños moribundos. ¡Depende de los padres de los niños con Sanfilippo luchar contra su destino! Hace diez años, un grupo de fundaciones de todo el mundo se encontraron y se unieron para encontrar y luego financiar millones de dólares para la investigación y un tratamiento para el Síndrome de Sanfilippo tipo C.    H.A.N.D.S. Nuestros científicos tienen pruebas de concepto y ahora estamos listos para fabricar nuestro vector en grandes cantidades para que podamos llevar a cabo un ensayo clínico. Para esto necesitamos tu ayuda en la financiación! Sé parte de algo sobre lo que puedas sonreír. Ayude a nuestras familias Sanfilippo tipo C a financiar la producción de un medicamento que detendrá esta enfermedad para muchos de nuestros niños sobrevivientes y salvará las vidas de la próxima generación. German Waren Sie schon einmal mit dem Sanfilippo Syndrom konfrontiert? Haben Sie sich mit dem Thema Gentherapie auseinandersetzen müssen? Wenn nicht, dann können Sie sich glücklich schätzen. Familien, die von seltenen genetischen Erkrankungen betroffen sind, haben weniger Glück. Eltern todkranker Kinder verbringen jeden Tag mit ihren Kindern, als könnte es der letzte sein. Das Sanfilippo Syndrom ist eine folgenschwere genetische Erkrankung, die von einer Genmutation verursacht wird. Diese hindert ein spezifisches Enzym daran, seine Aufgabe zu erfüllen. Ohne dieses Enzym verlieren die Kinder langsam alle bereits erworbenen Fähigkeiten von der Sprache über das Gehen bis hin zur Fähigkeit selbstständig zu essen. Am Ende steht der Tod. Die Gentherapie ist eine Behandlungsmethode, bei der ein Virus durch einen Vektor an das defekte Gen angebunden wird, der den Kindern das fehlende Enzym liefert. Das Sanfilippo Syndrom Typ C ist extrem selten. Es kommt nur bei einer von 1,5 Millionen Geburten vor. Die meisten Pharmafirmen sehen keinen wirtschaftlichen Nutzen darin, ein Heilmittel für unsere sterbenden Kinder zu produzieren und zu vermarkten. Es ist also an den Eltern der Kinder für ihr Schicksal zu kämpfen. Vor zehn Jahren hat sich eine Gruppe von Stiftungen gefunden und zusammengeschlossen um Millionen von Dollar für die Forschung zur Entwicklung eines Heilverfahrens für das Sanfilippo Syndrom Typ C aufzubringen: H.A.N.D.S. Unsere Wissenschaftler haben den Machbarkeitnachweis (Proof of Concept) erbracht und wir sind jetzt bereit, den Vektor in größerer Anzahl herzustellen, um die klinischen Tests durchzuführen. Dafür benötigen wir Ihre Hilfe. Seien Sie Teil von etwas auf das sie stolz sein können. Helfen sie den Sanfilippo Typ C Familien die Herstellung eines Heilmittels zu finanzieren, dass die Krankheit in den betroffenen Kindern aufhalten und zukünftige Betroffene retten kann. French   Le Syndrome de Sanfilippo En avez-vous entendu parler? La Thérapie Génique En avez-vous entendu parler? Si non, vous avez de la chance. Les enfants et familles qui souffrent de maladies génétiques rares n'ont pas cette chance. Les parents d'enfants souffrants les aiment tous les jours comme si ça pouvait être leur dernier. Le Syndrome de Sanfilippo est une maladie génétique horrible, causée par une mutation génétique qui empêche une enzyme spécifique de réaliser sa fonction. Sans cette enzyme, ces enfants perdent peu à peu leurs facultés telle la parole, la possibilité de marcher, de manger. Eventuellement c'est une perte motrice en chute libre qui se termine avec une mort prématurée.  La thérapie génique est un traitement qui attache un virus a l'enzyme en question. Ce virus permet à ces enfants de retrouver cette enzyme manquante. Le syndrome de Sanfilippo de type C est une maladie très rare. Seulement 1 naissance sur 1,5 million. La plupart des compagnies pharmaceutiques ne voient pas d'intérêt financier à produire et commercializer un remède pour ces enfants. C'est donc aux parents d'enfants Sanfilippo de se battre!  Il y a dix ans, plusieurs fondations à travers le monde se sont trouvées et réunies sous le nom de H.A.N.D.S. pour trouver et financer des millions de dollars de recherche pour trouver un traitement pour le syndrome de Sanfilippo de type C. Nos scientifiques ont abouti leur recherche et nous sommes maintenant prêts à créer un vecteur en grandes quantités pour pouvoir passer aux essais cliniques. Pour ceci, nous avons besoin de votre soutien financier! Faîtes partie de quelque chose de beau. Aidez nos famille Sanfilippo de type C a financer la production d'un remède qui puisse arrêter la progression de la maladie de leurs enfants, et sauvez les vies de la prochaine generation.  Portuguese Já ouviu falar da Síndrome de Sanfilippo? Já ouviu falar de Terapia Genética? Se nunca ouviu falar em nenhum deles, considere-se uma pessoa com sorte. As famílias e crianças que sofrem de doenças genéticas raras não são tão afortunadas. Pais de crianças com doenças terminais olham para os seus filhos todos os dias, como se cada dia fosse o último. A Síndrome de Sanfilippo é uma doença genética terrível, causada por uma mutação num gene, que impede uma enzima específica de degradar açúcares. Sem a enzima, as crianças perdem lentamente todas as suas capacidades, desde falar, andar, comer, sendo a doença fatal. A terapia génica é um tratamento em que a enzima em falta é colocada num vírus ou vetor. O vírus entrega a enzima que falta às crianças. A síndrome de Sanfilippo tipo C é uma doença ultra rara, com incidência de 1 em 1,5 milhão de nascimentos. A maioria das empresas farmacêuticas não tem interesse na produção e comercialização de um medicamento para uma doença tão rara. Cabe aos pais das crianças Sanfilippo lutar contra o seu destino! Há dez anos atrás, um grupo de fundações de todo o mundo juntou esforços para angariar e depois financiar milhões de dólares para desenvolver um tratamento para a Síndrome de Sanfilippo tipo C. H.A.N.D.S. Os nossos cientistas fizeram a investigação pré-clínica e agora estamos prontos para avançar para a produção do nosso vetor em grandes quantidades, para que possamos realizar um ensaio clínico. Para isso, precisamos da sua ajuda! Faça parte de algo que o faça sorrir. Ajude as nossas famílias Sanfilippo tipo C a financiar a produção de um tratamento que mudará o destino dos nossos filhos e salvará vidas nas próximas gerações. __________________________________________________________________________________________________________________________ More information about <a href="https://curesff.org/">Cure Sanfilippo Foundation</a> : Cure Sanfilippo Foundation works to fund urgent research for treatments or a cure for Sanfilippo Syndrome. Sanfilippo is rapidly degenerative. <a href="http://jonahsjustbegun.org/">Jonah's Just Begun</a>  (JJB), raises funds under Cure Sanfilippo Foundation (CSF) a 501c3 not-for-profit.  JJB has terminated it's 501c3 status and joined forces with CSF. JJB Co-Founded: H.A.N.D.S., <a href="https://missionhideandhelp.org/">Mission Hide and Help</a> and <a href="https://connect.patientcrossroads.org/?org=ConnectMPS">ConnectMPS.org</a>  A big thanks to our scientists and their lab members that have stood by us and work everyday towards a treatment: Dr. Alexey Pshezhetsky and his lab at Sainte-Justines, Montreal, Dr. Brian Bigger and his lab at Manchester University, Dr. Patricia Dickson at WASU and Tsui-Fen Chao at LABiomed. Special mention to: Dr. Claire O'leary thank you for your dedication. A special thanks to: CBS, Jonny Lee Miller and Kristine Johnson. Our families greatly appreciate all your help in fundraising and raising awareness. #CUREmps #CUREsanfilippo #CUREmpsIIIC

Caitlin Reilly

Margaret Roberts

Mac Lowry

Daria-Maret Geller

Penny Pyare

Louise Sherwin 

Jacob Blezard 

Cristiano da Silva Teixeira

Alex Abramyan

Bridget Adams

Rodrigo Castelan Carlson

MELISSA WILKIE

Venelina Sekulova

Tom Lester

Christi & Jason Ormeroid

Wayne Pan

The Final Countdown

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The Final Countdown

Still $747,110 to go. Help us build momentum.