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"New clinical trials in gene therapy show the beginning of a new form of molecular medicine"

prof-samulskiSaid Prof. Jude Samulski, director of the Gene Therapy Center of the University of North Carolina (USA), during the International Symposium "Liver directed gene therapy for rare diseases", celebrated at CIMA.
Prof. Samulski isolated and characterized during his PhD one of the most promising virus in the field of gene therapy, the adeno-associated virus. Since them Prof. Samulski's group has focused his work in the characterization of the vector, generation of new tools, manipulation of the vector and clinical applications. The main contributions in the science community that facilitated the new field of gene therapy are the sequencing of human genome (that allowed the identification of new gene´s associated with specific disease), specific development of "animal models" that mimic human diseases, and engineering of human viruses as gene transfer systems.

Prof. Samulski explained that the most important advance in gene therapy is the developing of more efficient gene delivery systems. "Ability to harness efficient and accurate gene transfer that is safe to the patient and does not pose a risk to general population has triggered a landslide of new clinical trials that are beginning to show the promise of this new form of molecular medicine. We are observing patients clinically benefiting after experimental gene transfer in many indications such as Factor IX for Hemophilia, Leber Congential Amaurosis -LCA for ocular blindness, Wiscott A syndrome, Adrenolekudystrophy, to name a few".


Quality of gene therapy research and need of funding

jude-samulski-universidad-de-navarraDuring his visit to the CIMA, said that it is remarkable to see how fast things are moving forward based on the research being carried out in various Spanish institutes. The research teams located in Pamplona, Dr. Jesús Prieto and Dr. Gloria González-Aseguinolaza, to name a few, whom have position themselves to be leaders in gene transfer for liver disorders such as Wilson's disease, acute intermittent porphyria, and cirrhosis of the liver. According to Prof. Samulski, "all of these ground breaking therapeutic initiatives are only possible with strong commitments from the funding communities. In the US, even during hard economic times, it has been important to keep this research engine running at full speed. This area is becoming extremely competitive now that early days of success are on the horizon, and many countries are lining up to exploit what will be the next wave of medical breakthroughs that impacts life long illness associated with genetic disorders".

"For me it is a privilege to be part of this amazing journey and similar to the pioneering spirit of the early Spanish explores, to share in discovering new cures to these crippling genetic diseases with the talented colleagues from Spain makes the "hard work" all the more enjoyable"..


Fifteen researchers working in rare diseases met together at the International Symposium "Liver directed gene therapy for rare diseases" held in Pamplona.

meeting-in-pamplona-october-2014-3140 people gathered during October 9, 2014, in the Center for Applied Medical Research Conference Room, to attend the International Symposium " Liver directed gene therapy for rare diseases" organized by the whole Consortium of the AIPGENE project, funded by the European Commission.
15 experts from national and international centers such as University of North Carolina, Vienna General Hospital, French Institute of Health and Medical Research, Hannover Medical Centre or the Clinic University of Navarra, working as clinicians or in gene therapy applications for rare diseases presented the latest advances in research and potential gene therapy treatments. Expert clinicians working on different rare diseases such as Porphyria, Hyperoxaluria, Sanfilippo Disease, Crigler-Najjar Disease and Wilson Disease, presented the current knowledge of the cause and the pathology of each disease. After that, researchers working on the implementation of gene therapy strategies for the potential cure of each disease presented experimental or clinical data. According to doctors, Gloria González-Aseguinolaza and Jesus Prieto, scientists at the CIMA and Clínica Universidad de Navarra respectively, and organizers of the symposium, "Translational research will select and implement the most effective drug for each patient according to the cellular and molecular characteristics of the disease".
Among the scientific advances that were addressed in this conference, highlight new therapeutic strategies to treat or prevent rare diseases and hemophilia.
The event was also a great opportunity for training, medical doctors, scientists, nurses, university teachers and also PhD and university students discussed different aspects presented during the symposium. Representatives from patient associations and companies working of the field of rare disease were also present.


AIPGENE results and conclusion were discussed in the final AIPGENE meeting.

meeting-in-pamplona-october-2014October 9th 2014 Pamplona, Spain

All the AIPGENE partners met last 9 of October in Pamplona with the External Advisory Board experts. During the meeting, all the safety data related to the phase I gene therapy clinical trial for acute intermittent Porphyria, which main goal was to determine the safety of the treatment, were presented and analysed. The data clearly show the safety of the procedure. Some data of the efficacy were discussed with the AIP experts, meeting-in-pamplona-october-2014-1however since the data case of the trial has not been still closed; a complete analysis of the data could not be performed.

Finally, clinicians, researchers and experts after the evaluation the project results, agreed to continue with current research trying to search new ways for funding in order to improve the current novel therapy to treat AIP patients.


AIPGENE partners are organizing an International Symposium

This Symposium is being organized by the Foundation for Applied Medical Research (FIMA) of Pamplona and the other partners implicated in the AIPGENE project, imagotipouniQure (Netherlands), Universidad de Navarra (Spain), Karolinska University Hospital (Sweden), the National Center for Tumour Diseases (Germany), Digna Biotech (Spain) and Hospital 12 de Octubre (Spain).

During the next weeks, it will be uploaded all the information related to this event, including the Scientific Programme.

We sincerely hope that you will join us at the Symposium to foster a creative exchange of ideas and to enhance interactions with colleagues from many different countries.


AIPGENE Closing Meeting

AIPGENE partners will meet next 10th of October in Pamplona together one day after the celebration of the International Symposium. The main objectives of this meeting will be the following:

  • Update on the completion of the observational study
  • Update of the progression of the Phase I clinical trial
  • Evaluation of future plans beyond Phase I clinical trial.
  • Options for AIPGENE in Horizon 2020.

A preliminary evaluation of the baseline collection data from the observational study will be discussed together with the porphyria experts in this meeting, in order to collect ideas and suggestions how to manage data for final report.

The meeting will close the AIPGENE project, will finish in October 30, 2014, with the hope to look for new ways to treat Porphyria or other rare diseases.


AIPGene Observational study and clinical trial in

April 2014

Information about the AIPGene studies performed in acute intermittent porphyria patients can be found in the public Clinical web page. is a web-based resource that provides patients, their family members, health care professionals, researchers, and the public with easy access to information on publicly and privately supported clinical studies on a wide range of diseases and conditions. The Web site is maintained by the National Library of Medicine (NLM) at the National Institutes of Health (NIH).

Since February 2014 the "Observational Study of Acute Intermittent Porphyria Patients" sponsored by Digna Biotech is uploaded in the Clinical webpage with Identifier code NCT02076763. A complete description of the study is described in the web including: purpose, outcomes, study groups, eligibility, study description, contacts and locations and more information. The study is completed and closed, and final report is under preparation. Study information will be updated periodically.

Clinical trial with title "Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria" has also been uploaded to this clinical trials web. The Identifier code is NCT02082860. Purpose, outcomes, enrolment plan, arms and assigned interventions, eligibility, study description, contacts and locations and more information were described for this study. The study is active but not close, as last visit /last patient is planned for early August 2014.

Bilbao. 23rd November 2013.

Bilbao-Presentation-november-23Last 23rd November 2013 the North Delegation of Spanish Porphyria Patient Association organized a first meeting in Bilbao. The main objective was to establish contacts between clinicians and researchers working in the porphyria field, with affected patients and their families.

Four invited speakers presented different aspects of acute and cutaneous porphyria's. Presentations addressed last advances in basic research (Dr. Millet), clinical diagnose (Dr. Enríquez), dermatological implications (Dr. Ratón) and neurological involvement (Dra. Aranzabal).

Dr. Enríquez, as AIPGene member, presented also an update on the AIPgene therapy clinical trial and answered questions from attendees.


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