Projects and milestones

Logo fondazione Telethon
Alessandro Fraldi

Sanfilippo syndrome: what role for amyloid aggregates and autophagy in the neurodegenerative process?

Here we are telling you about our first achieved goal: two research projects in the offing! One funded by our association and one funded by the Telethon Foundation.

Among the projects that received funding, the one coordinated by Alessandro Fraldi, of CEINGE Advanced Biotechnologies in Naples, on Sanfilippo syndrome (or mucopolysaccharidosis type 3), will aim to investigate the mechanisms underlying the degeneration of nerve tissue typical of the disease. 

Sanfilippo syndrome is a rare disease caused by the accumulation of toxic substances in the nervous system characterised by motor and cognitive retardation, neurodegeneration, and behavioural disorders. 

A new pharmacological approach for Sanfilippo syndrome based on stimulation of autophagy

Also on the Sanfilippo syndrome, the project by Elvira De Leonibus of Tigem in Pozzuoli and the Institute of Biochemistry and Cell Biology of the National Research Council in Monterotondo (CNR-Ibbc), will try to evaluate a new therapeutic approach based on pharmacological stimulation of autophagy, the process that allows cells to dispose of waste substances.

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Elvira de Leonibus

Clinical guideline for the safe anaesthetic management of patients with mucopolysaccharidosis (MPS)

We are contributing a €2000 grant (out of a total project total of €10000) to fund the study of Simone Moser, a student at the Paracelsus Medical University in Salzburg, aimed at finding a safe clinical pathway to manage patients with MPS during anaesthesia; this plays a key role as patients with MPS are at very high risk of respiratory, cardiac and peri-operative neurological complications2.

The study is being conducted in California at Benioff Children’s Hospital Oakland, one of the world’s largest centres for patients with MPS, and is supervised by Dr. Paul Harmatz and Dr. Richard Rowe of Benioff Children’s Hospital Oakland, as well as Dr. Florian Lagler of Paracelsus Medical University Salzburg.

Logo Sanfilippo Children's Foundation
Logo Cure Sanfilippo Foundation

Cure Sanfilippo Foundation and Sanfilippo Children's Foundation

Sanfilippo Fighters in collaboration with Cure Sanfilippo Foundation and Sanfilippo Children’s Foundation is pleased to announce the funding of the research project of Dr. De Leonibus and Dr. De Risi of the Tigem research centre in Pozzuoli.

Together we will follow the development of the project that is already underway and has so far been financed by the two major foundations.

Today, thanks to our commitment and your support, we can say that we are an active part in the development of specific therapies for Sanfilippo syndrome.
To start is already an achievement and goals are reached together.

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Sanfilippo Family Support Project

Every illness always has a double concatenation: personal and family. It does not only affect the sufferer, but puts the same rucksack of obstacles, disadvantages, worries and pain on the shoulders of all family members. However, the image of the backpack can be linked not only to the idea of weight, but also to that of a long walk, hike, exploration.

And this is what the project seeks to do: to give a map to orient oneself in the potential and not only in the difficulties, to provide signposts indicating the refreshment points of understanding and acceptance, to deal with the discouragement and loneliness of the journey.

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The aims pursued by the project are therefore twofold

1. to offer psychological support in the management of the emotional stressors associated with coping with the illness, which starts with the officialisation of the diagnosis and runs through daily living together, often to the conclusion marked by bereavement.

Holistically, the project aims to prevent family dynamics from crystallising into an irreparable state of guilt, anger and despair, which in turn would lead to various maladaptive reactions, such as forms of passive and uncritical resignation, or forms of denial and denial of the damage.

Particular attention will be paid not only to the involutional states of mind linked to the problems of the illness, but also to the dynamics of the relationship between spouses, in the awareness that the elaboration of the handicap can undermine the equilibrium of the couple or even exacerbate pre-existing conflicts, triggering a destructive spiral between the responsibilities of partners and those of caregivers.

Nor will the dynamics involving siblings be neglected, in order to cope with a varied constellation of risks: isolation, peer prejudice, feelings of shame and frustration, the drive towards too early autonomy and ‘parentalisation’, the perception of deprivation of parental care due to the greater demands of the ‘weaker’ sibling.

2. offer training in the use of specific strategies for managing symptomatic behaviour.

Conducted by psychologist Lucia Biasco

Milestones in 2021