COLLABORATIONS
Psychological support for members
The “Associazione Collagene VI Italia APS”, in full awareness of the psychological implications for patients and family members in having to live with and cope with a rare disease, has decided to activate a collaboration with Caleidoscopio – Centre for Cognitive Behavioural Psychotherapy, run by Dr. Mazza and Dr. Lo Sterzo.
PRENATAL GENETIC COUNSELING
In collaboration with the Department of Reproduction and Growth Operative Unit of Medical Genetics – Director Prof.ssa A Ferlini.
Pathologies
Ullrich dystrophy
Ullrich congenital muscular dystrophy is a genetic disorder involving certain genes encoding for the alpha chains of Collagen VI (COL6A1, COL6A2 and COL6A3), most of the known cases being autosomal recessive inherited.
Bethlem Myopathy
Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, COL6A3 genes. The prevalence is 0.77 per 100,000 inhabitants.
Myosclerosis
Myosclerosis is caused by mutations of the COL6A1, COL6A2, COL6A3 genes.
WELCOME!
Welcome to the website of the social promotion Association “Collagen VI Italia APS”! We are a group of patients and parents of children with a muscular pathology linked to a Collagen VI deficiency: Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy and Myosclerotic Myopathy. Our main goal is to represent a reference point for these disorders, whereby patients and their families can get to know each other and discuss disease-related issues. The group as a whole supports scientific and medical research with the utmost commitment, in particular with testimonials and initiatives with a view to heightening the awareness of the institutions and the pharmaceutical industry to fund projects aimed at discovering therapies to combat Collagen VI myopathies.
OUR STORIES
MEMBER OF
SUPPORT US
Our President
“I hope that the Collagene VI Italia Onlus Association can continue to grow with the contribution of all the members, because everyone’s commitment is needed”
Tell us about yourself!
“Being disabled means having limitations, sometimes heavy to bear, but which often put you in a privileged position, because you are more aware of the value of things”
“I would like to write a message of hope, of courage, of positivity for all of you. When Giulia was born, I understood that there was something wrong, we mothers have a sixth sense…”
“I love meeting new people, I use the electric wheelchair and I can travel wherever I want. I paint, draw and write poetry. I love my life and with the help of the personal assistant I can do anything”
LATEST NEWS
N-th meeting report
col6.it: bigger, more visible and multiqualcosa Report del quarto raduno del gruppo col6.it –...
The protein-free diet
Activation of autophagy in patients with col6 myopathy through an experimental protein-free pilot diet.
Collaboration to test the use of Alisporivir (Debio 025) in muscular dystrophy
Debiopharm International SA and Solid Biosciences, LLC, announce a collaboration to test the use of Alisporivir (Debio 025) in muscular dystrophy.
Telethon TV Marathon 2017!
Interview with Cecilia Sorpili of Collagene VI Italia at the 2017 Telethon Marathon on Rai2....
Presentation #COL6orriso
The main objective of col6.it is to represent a point of reference for these pathologies, where...
Christmas greetings 2017 #COL6orriso!
Christmas greetings 2017 from the Collagene VI Italia Onlus Association
ON COLLAGEN VI DEFICIENCY DISEASES
Collagene VI Italia ONLUS participated in the Rare Barometer Voices research!
Here are the most important results from the survey on the participation of patients affected by rare diseases in research involving 3,213 patients and their families, conducted in 23 languages in 42 countries around the world! After months of analysis, we are...
Scientific leaflet
To download the PDF of the flyer click HERE.
Medical publications
The protein-free diet
Activation of autophagy in patients with col6 myopathy through an experimental protein-free pilot diet.
Collaboration to test the use of Alisporivir (Debio 025) in muscular dystrophy
Debiopharm International SA and Solid Biosciences, LLC, announce a collaboration to test the use of Alisporivir (Debio 025) in muscular dystrophy.
Valentina and the zebrafish: a new step towards the study of Collagen VI!
During the PhD period carried out in the laboratory of Prof. Paolo Bonaldo, I had the opportunity to work with an interesting model organism, the zebrafish. I published my first work (you can download it at this link) in which it characterizes the expression of...