Liestal, Switzerland, October 19, 2011 - Santhera Pharmaceuticals (SIX: SANN) announced today that it will present data from the 2-year open-label study (DELPHI-E study) evaluating Catena® for the treatment of Duchenne Muscular Dystrophy [1], one of the most common and devastating types of muscular dystrophy. The findings indicate that Catena® slowed the decline in respiratory function compared to the expected natural history in patients with Duchenne Muscular Dystrophy. Data from this study are in agreement with and confirm data from a randomized controlled study (DELPHI study) of 12 months duration [2]. The poster presentation will be given at the 16th International Congress of the World Muscle Society in Almancil, Portugal on October 21, 2011.

Duchenne Ireland announced today, the completion of the first stage of their Personalized Exon Skipping research project.

Skin biopsy samples were collected atthe Central Remedial Clinic in Dublin on July 8th 2011 and transported to the Newcastle BIO Bank in the UK where they await cell culture procedures before transport to Professor Steve Wilton’s laboratory in the University of Western Australia.

Speaking about the research project, Dr. Bryan Lynch Paediatric Neurologist at Temple Street Children's Hospital and the CRC said: "The goodwill and enthusiasm of all associated with this project is incalculable".

Thanks must be given to all of Duchenne Ireland’s supporters for their efforts with fundraising which has allowed Duchenne Ireland to fund this international project in its entirety. We would also like to thank the Duchenne Ireland research committee for the efforts to bring the project to its current stage.

Special thanks to the clinicians, nurses, patients and families who participated in the collection of the samples on the day and the great support families received during recruitment for the project. We acknowledge the pivotal role played by Professor Kay Ohlendiek and his team from NUI Maynooth who continue to liase between all participants in the project. Appreciation must also be shown for Professor Hanns Lochmüller and Professor Katie Bushby from Newcastle University for their collaboration on sample storage and cell culture at the Newcastle BioBank and final shipment to Professor Wilton's laboratory in Australia.

Finally, this project would not be in place at all if it was not for the dedicated work of Professor Steve Wilton and Professor Sue Fletcher from the University of Western Australia who have consistently progressed therapies for Duchenne boys over the past number of years since Exon Skipping showed initial therapeutic potential.

Pictured in the photograph at the CRC on the 8th of July were: (left to right): Dr. Bryan Lynch, Steve Carbery, Eoin O Rathaillaigh, SuzanneKeily, Margaret Goode, Therese Nestor, Aoife Carey.

Description of the research project onExon Skipping Therapy

This research project funded entirely by Duchenne Ireland's supporters is based onlocating the exon that is faulty in specific patient samples and willthen screen for the genetic drug which is most likely to block the defective process in this dystrophic sample. Since the human DMD gene contains 79 different exons, many different types of anti-sense molecules have to be tested. This fact makes this research project very complex. Following the skin biopsy procedure, the tissue sample will be transferred to a container with a biological liquid rich in nutrients. The potential contamination of the tissue sample with infectious agents, such as bacteria, will be prevented and controlled with antibiotics. This is important for the subsequent step of cell culturing.

Individual cells will then be produced from patient tissue samples. Cells will be stored in a BioBank Facility and samples shipped to the laboratory of Prof. Steve Wilton for genetic analysis. Cell samples will be exclusively used for this exon skipping project. At the end of the project, tissue samples will be destroyed or kept as a reference in the BioBank Facility if this is the wish of the participating patient. Tissue samples will be transferred anonymously and only suitable medical information, that might be helpful for the genetic study, will be supplied to the research laboratory.

Duchenne Ireland has announced today, that their Exon Skipping funded research project in association with NUI Maynooth and Temple Street Children's Hospital has passed ethics and skin sample collection is scheduled to take place on June 8th.

Description of the research projecton Exon Skipping Therapy

This research project is based on locating the exon that is faulty in specific patient samples and will then screen for the genetic drug which is most likely to block the defective process in this dystrophic sample. Since the human DMD gene contains 79 differentexons, many different types of anti-sense molecules have to betested. This fact makes this research project very complex. Following the skin biopsy procedure, the tissue sample will be transferred to acontainer with a biological liquid rich in nutrients. The potential contamination of the tissue sample with infectious agents, such as bacteria, will be prevented and controlled with antibiotics. This is important for the subsequent step of cell culturing. Individual cellswill then be produced from patient tissue samples. Cells will bestored in a BioBank Facility and samples shipped to the laboratory of Prof. Steve Wilton for genetic analysis. Cell samples will be exclusively used for this exon skipping project. At the end of theproject, tissue samples will be destroyed or kept as a reference inthe BioBank Facility if this is the wish of the participating patient. Tissue samples will be transferred anonymously and only suitable medical information, that might be helpful for the genetic study, will be supplied to the research laboratory. 

If your son(s) with Duchenne are interested in taking part in this research project, please contact Dr. Bryan Lynch (Principal Clinician), Neurology Department, Temple Street Children's Hospital (01-878 4200) for further information on eligibility and schedule and location. Please Note: For logistic and other reasons this project is limited to Irish patients.

Duchenne Ireland Research Committee 

The following Abstract from a research paper on gene therapy reseach for Duchenne is the result of a Duchenne Ireland Grant awarded to Professor George Dickson's Laboratory in 2009. Please see the translational research section of our website for the link to the full paper:

Delivery of AAV2/9-microdystrophin genes incorporating helix 1 of the coiled-coil motif in the C-terminal domain of dystrophin improves muscle pathology and restores the level of α1-syntrophin and α-dystrobrevin in skeletal muscles of mdx mice.

Koo T, Malerba A, Athanasopoulos T, Trollet C, Boldrin L, Ferry A, Popplewell LJ, Foster H, Foster K, Dickson G.

Royal Holloway, University of London, Biomedical and Life Sciences, Surrey, Egham, United Kingdom; T.Y.Koo@rhul.ac.uk.

PMID: 21453126 [PubMed - as supplied by publisher]

Duchenne Ireland have awarded a research grant to Professor Steve Wilton's Lab in Australia under the Duchenne Ireland Research Grant Program in 2010,

with co. applicants being NUI Maynooth. The process involves samples to be given from the boys and skin cell cultures developed and sent to the Australian Laboratory

to identify specific chemistries that perform strong exon skipping for the boys specific cells.

Duchenne Ireland are currently seeking interested parents based in Ireland who's boy(s) have Duchenne and are eligible for Exon Skipping

(Genetics report and genetics counselling will help determine this) and where the parents are interested in personalized exon skipping research.

Interested parents should contact John Gorman on 083-3348634 for further details.

Note: This project is purely for research purposes only. All sample collection, cell culture, transfer and testing will involve full ethics approval by the institutions involved.

   

October 2nd 2010 - Ireland

Duchenne Ireland Charity Funds Cutting Edge Personalised Research

Duchenne Ireland issues a call for funding applications each year and there is considerable interest from research groups at home and abroad in obtaining financial assistance to perform much needed translational research into Duchenne Muscular Dystrophy. Decisions are made quickly by the charity’s research committee following peer review by international experts to ensure that important work can proceed without unnecessary delay. The charity, in it’s first grant call, contributed more than €200,000 to research projects that offer hope of promising breakthroughs in terms of treatments for this generation of boys.

Since it was set up a few short years ago, Duchenne Ireland has been involved in funding projects in Europe and elsewhere and it is hoped that such involvement can be continued. This will be possible only through additional fund-raising efforts which will help to ensure that money will be available to keep these important project going. The types and nature of the projects are very varied but in all cases the emphasis is on translational research that could have short or mid-term impact.

The latest round of funding has seen Duchenne Ireland commit another €180,000 towards a project that hopes to deliver results using a technique called exon skipping to overcome some of the negative effects of Duchenne Muscular Dystrophy. The project aims to identify the potential of exon skipping therapy for boys with Duchenne at a personalised level.

Numerous clinical trials are underway internationally for Duchenne therapies and Irish boys with Duchenne are currently missing out on the potential of these trials including upcoming “exon skipping” trials due to the lack of a clinical trial centre for Duchenne in Ireland. Ireland at present is one of the only countries in Europe that does not have a Duchenne Clinical Trial Centre. Duchenne Ireland is actively working with the Government and national Clinicians on a proposal to establish such a clinical trial centre for Duchenne in Ireland.

Funding for Duchenne Ireland research is generated from charity events such as this weekend’s (Saturday Oct 2nd) Tour Duchenne 2010, taking place at 9am at the Aquarium, Strand Road, Bray.
Tour Duchenne Is Duchenne Ireland’s annual charity cycle to raise funds for Duchenne Muscular Dystrophy research. Each year cyclists get ready for a super cycle route within Ireland. This year it takes them on the “Beach Tour” from Bray Seafront to Brittas Bay and back (approx 85 km.

The cycle is facilitated by the Gardai, the Red Cross, Bray Town Council and is sponsored by local businesses. This is a great day to show your support for the charity within the towns on the route (see http://www.duchenne.ie for route itinerary).

About Duchenne

Duchenne is the most common fatal genetic disorder diagnosed during early childhood, affecting approximately 1 out of every 3,500 boys and 20,000 babies born each year. Duchenne causes loss of muscle function and independence. There is currently no cure for Duchenne, but much research is currently underway to find an interim therapy that will help delay the progression of the disease until a cure is found.

66% of all duchenne cases are inherited from the boys mother. 33% of Duchenne cases diagnosed are not inherited but cause by environmental factors. This means that any boy can be diagnosed with Duchenne. Boys are usually only diagnosed between the ages of 3 and 5 years of age.Current research is working on replacing the missing dystrophin in children with Duchenne. Clinical trials are already underway, but we need more direct funding to this research to ensure it progresses faster than the disease.

About Duchenne Ireland

Duchenne Ireland is a patient organization and registered Irish Charity (CHY 18197) established to facilitate funding translational research into Duchenne Muscular Dystrophy. Duchenne Ireland is affiliated with numerous patient groups and clinical, research and support networks for Duchenne Muscular Dystrophy. Duchenne Ireland works internationally to rapidly advance research into Duchenne and welcomes organization, parents and supporter who believe they can help to forward progress in this research.

The aims of Duchenne Ireland is to raise awareness of Duchenne Muscular Dystrophy at local, national and government level. Our objective is to raise funds which shall go directly to the researchers and clinicians who we believe have the best chance of developing improved therapies which will benefit this generation. We are also working towards achieving an infrastructure which is on a par with best international practice.