Page 38 - MemoriaER-Eng

HORIZONTAL PROGRAMMES

• Title: “Guideline for Multiple Endocrine Neoplasia type 1 (MEN 1) Pa-

tients and Family Members”

Summary: Informative brochure for patients and family members summarizing

multiple endocrine neoplasia type 1 (MEN 1), symptomatology and therapeutic
possibilities.

Authors: Sociedad Española de Endocrinología y Nutrición (Spanish Society for
Endocrinology and Nutrition). CIBERER. IPSEN.

http://www.seen.es/docs/publico/enfermedades/otras/FolletoMen1_2.pdf

• Title: “I want to know what HHT is”

Summary: Informative brochure for patients and family members explaining He-

reditary Hemorrhagic Telangiectasia (HHT) or Rendu Osler Weber disease, clinical
manifestations, genetics, diagnosis, treatment, pregnancy and HHT, pediatrics

and HHT and centres with experience in HHT.

Authors: Dr. Carmelo Bernabeu and Dr. Ma Luisa Botella (U707). ó

http://www.ciberer.es/documentos/guias/Triptico%20Unidad%20HHT.pdf

CIBERER Clinical Guidelines are regularly added to the CIBERER database (in the “do-

cumentacin” section on the CIBERER web page or directly at http://www.ciberer.es/

index.php?option=com_docman&task=cat_view&gid=41&Itemid=194), which helps
disseminate the information to the remaining CIBERER groups, healthcare professio-

nals and the general public.

Support for the development of therapeutic solutions: clinical trials,

advanced therapies and orphan drug designation

In keeping with its strategic objectives, CIBERER facilitates and encourages its re-

search groups to participate in national and international trials, aimed at the deve-

lopment and validation of therapies for RD.

In 2013, CIBERER started to more actively boost research projects in advanced the-
rapies (gene therapy, cell therapy and tissue engineering), preclinical research pro-

jects and research on the biology of stem cells, particularly iPS cells, to allow future
personalized cell therapy and regenerative medicine developments. This can be seen

both in the granted ACCI (gene therapy for MNGIE and cell therapy for mitochondrial

diseases), and in other externally funded CIBERER projects (Fanconi anemia and
Autism/Williams Syndrome), and by means of organizing the Conference on «Ad-

vanced therapies for the treatment of Rare Diseases», on October 25 in the Palacio

Municipal de Congresos in Madrid.
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Furthermore, CIBERER acts as an advisor and driving force in any initiative relating T
to orphan drug designation that may arise from its research groups. This orphan R
PO
drug designation is necessary for being eligible for the 2020 Horizontal Programme E
aid for the start-up of clinical trials on RD. CIBERER is a sponsor of the orphan drug L R
A
“Lentiviral vector containing the Fanconi anemia A gene (FANCA)” for the treatment NU
N
of this disease, developed and validated by Dr. Juan Bueren, Head of CIEMAT Group A
U710.
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B
CI

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