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We support #RareDiseaseDay. What's new on Fabry disease research?

Since 2008 thousands of activities and events happen every year all around the world on the last day of February to raise awareness and suport Rare Diseases. This year 2022, the Rare Disease Day is on 28 of February!

28 February 2022

Rare diseases are pathologies or disorders that affect a small part of the population and that generally have a genetic component. They are also known as orphan diseases.

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Diseases present a series of particular symptoms, and it is very difficult to diagnose what their true cause is. These disorders or alterations that patients present must be evaluated by a specialist, depending on each case.

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Nowadays, 5 % of the world population suffer from them. This translated into numbers, corresponds to approximately 300 million people affected. A patient with a rare disease waits an average of 4 years to obtain a diagnosis, in 20 % of cases it takes 10 or more years to achieve the proper diagnosis.

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Orphan drugs to fight disease

To combat this disease, patients need to be treated with so-called orphan drugs. They serve to prevent and treat pathology. Its composition is based on biotechnological compounds whose manufacture is very expensive. For this reason, today more than ever, the cooperation of governments is needed to make these treatments accessible to a greater number of people who suffer from these disorders, and more research is needed to find methods to produce these pharmaceuticals at a lower cost. 

Fabry disease: one of the rare diseases that currently lack a definitive cure

Fabry disease is a lysosomal storage disease arising from a deficiency of the enzyme α-galactosidase A (GLA). The enzyme deficiency results in an accumulation of glycolipids, which over time, leads to cardiovascular, cerebrovascular, and renal disease, ultimately leading to death in the fourth or fifth decade of life. Currently, lysosomal storage disorders are treated by enzyme replacement therapy (ERT) through the direct administration of the missing enzyme to the patients.

Smart-4-Fabry: European project coordinated by ICMAB

The European “Smart-4-Fabry” project  was undertaken by a consortium formed by ten partners, including private companies and public institutions in Europe and Israel, with a Horizon2020 financial programme by the European Commission. It was coordinated by CIBER-BBN and ICMAB researcher Nora Ventosa

Four units of NANBIOSIS participated in the project, from ICMAB, U6 Biomaterial Processing and Nanostructuring Unit, led by Nora Ventosa, at the Nanomol-Bio group. The team developed tasks related to the manufacture of the nanoliposome formulation of GLA enzyme, the scaling up of the process, and the physico-chemical characterization of the liposomes obtained (including particle size distribution, particle concentration, particle morphology and stability, and Z-potential).

The project takes advantage of liposomes and their capacity of being drug delivery systems to encapsulate the pharmaceutical to treat Fabry disease. Nanoliposomes are being researched and utilized in the pharmaceutical, food and cosmetic industries, but one of the main barriers to market is their scalability.

Quality by Design approach

In their last work, researchers studied the DELOS-susp method (Depressurization of an Expanded Liquid Organic Solution into aqueous solution), a compressed fluid-based method that allows the reproducible and scalable production of nanovesicular systems with remarkable physicochemical characteristics, in terms of homogeneity, morphology, and particle size, to prepare the GLA-loaded nanoliposomes (nanoGLA). 

In the paper published in The Journal of Supercritical Fluids,  the group optimized and reached a suitable formulation for in vivo preclinical studies by implementing a Quality by Design (QbD) approach, a methodology recommended by the FDA and the EMA to develop robust drug manufacturing and control methods, to the preparation of α-galactosidase-loaded nanoliposomes (nanoGLA) for the treatment of Fabry disease, now that this drug was designated as Orphan Drug by the European Comission, as we explained last year on this very same date.

Through a risk analysis and a Design of Experiments (DoE), researchers obtained the Design Space in which GLA concentration and lipid concentration were found as critical parameters for achieving a stable nanoformulation. This Design Space allowed the optimization of the process to produce a nanoformulation suitable for in vivo preclinical testing.

It looks like everything is prepare to bring this nanopharmaceutical to the next level! Good for Fabry! 

Phoenix: Open Innovation test bed for pharmaceuticals

Researchers of CIBER-BBN and NANBIOSIS, led by Nora Ventosa, are currently participating in another european project, PHOENIX “Enabling Nano-pharmaceutical Innovative Products” in the framework of which this novel nanomedicine developed under the Smar-4-Fabry project and designed as Orphan Drug by the EMA, will be scaled-up and manufactured under GMP to enable its clinical testing.

Reference Article:

Application of Quality by Design to the robust preparation of a liposomal GLA formulation by DELOS-susp method
Josep Merlo-Mas, Judit Tomsen-Melero, José-Luis Corchero, Elisabet González-Mira, Albert Font, Jannik N. Pedersen, Natalia García-Aranda, Edgar Cristóbal-Lecina, Marta Alcaina-Hernando, Rosa Mendoza, Elena Garcia-Fruitós, Teresa Lizarraga, Susanne Resch, Christa Schimpel, Andreas Falk, Daniel Pulido, Miriam Royo, Simó Schwartz, Ibane Abasolo, Jan Skov Pedersen, Dganit Danino, Andreu Soldevila, Jaume Veciana, Santi Sala, Nora Ventosa, Alba Córdoba
The Journal of Supercritical Fluids, Volume 173, 2021, 105204
DOI: 10.1016/j.supflu.2021.105204

Impact of Chemical Composition on the Nanostructure and Biological Activity of α-Galactosidase-Loaded Nanovesicles for Fabry Disease Treatment
Judit Tomsen-Melero, Solène Passemard,Natalia García-ArandaZamira Vanessa Díaz-RiascosRamon González-RiojaJannik Nedergaard PedersenJeppe LyngsøJosep Merlo-MasEdgar Cristóbal-LecinaJosé Luis CorcheroDaniel PulidoPatricia Cámara-SánchezIrina PortnayaInbal IonitaSimó Schwartz Jr.Jaume VecianaSanti SalaMiriam RoyoAlba CórdobaDganit DaninoJan Skov PedersenElisabet González-Mira*Ibane Abasolo*, and Nora Ventosa*
ACS Appl. Mater. Interfaces 2021, 13, 7, 7825–7838
DOI: 10.1021/acsami.0c16871


Graphical Abstract of the last publication in The Journal of Supercritical Fluids

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