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.