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Our Mission

The Mission of the Italian Macrodactyly and PROS Association is:

  • To provide support to patients with PROS and their families
  • To increase awareness of PROS, both in the general public and among physicians
  • To stimulate and support research on PROS aimed at better characterizing its causes, its natural history and develop better treatment
  • To strive for the creation and publication of evidence-based diagnosis and treatment guidelines on the condition
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What is PROS?

The acronym PROS refers to a spectrum of rare diseases causing overgrowth in one or more body areas, possibly including internal organs, that can be associated with vascular malformations and neurologic disorders.

In 2012, thanks to the advent of Next Generation Sequencing, researchers found out that many overgrowth diseases had a common cause: somatic gain-of-function (activating) mutations in the PIK3CA gene.

Before 21012, diagnosis in these patients was made based on the clinical features (signs and symptoms) and included:

Treatment of PROS is not curative at the moment, aiming at managing symptoms (surgery to remove overgrowth or to treat skeletal symptoms such as scoliosis, use of medications for epilepsy, speech therapy, physical therapy, special education, etc.).

However, clinical studies are underway to test safety and efficacy of certain molecules targeting the PI3K-Akt-mTOR pathway that could potentially be used in patients with syndromes and isolated disease that are linked to this pathway.

 Our most significant Projects

In December 2017 we organized the First Day on Macrodactyly, with specialists of the disease, in order to promote a better understanding of macrodactyly and sharing of knowledge gathered so far.

Our efforts are now focussed on two main projects:

  • the creation of a registry for PROS, in order to gather longitudinal data on this spectrum of diseases and promote a better understanding of its causes and natural history
  • signing an agreement with an Italian institutional biobank belonging to the Telethon Network of Genetic Biobanks (TNGB), so that our samples can be accessible to researchers worldwide having an interest in PROS.

Thanks to a joint project with the Cloves Syndrome Community, an informational brochure on PROS, geared for adolescents and adults, is now available for download here.

If you wish to make contact with us, please write to:

info@associazione-nazionale-macrodattilia.org

If you represent a pharmaceutical company, please write to:

companies@associazione-nazionale-macrodattilia.org

We would love to network with other PROS communities or with international researchers, clinicians and other stakeholders having an interest in PI3CA-related overgrowth conditions