Sum up of AISAC congress about rare diseases

AISAC is the italian association for the study and information on achondroplasia. The annual congress was held in Rimini, Italy, 30th April and 1st May 2016.

“Man is the measure of all things” – AISAC motto

Day one sessiones:

The first presentation was by Dr.Mirko Essing (Medical Affairs Director, BioMarin Europe) on BMN-111. The central theme was the scientific search: update and presentation of the the clinical study road map of BMN-111.

It was also presented a new study project to better understand the experience of living with achondroplasia and specific variations among emerging countries, as a patient and as a family.

The following theme, was the presentation of the TIGEM-Telethon Institute of Genetics and Medicine, research by Prof. Carmine Settembre, on FGF signalling, autophagy and achondroplasia, a new approach of studies.

Another session was about the compression of the foramen magnum in children achondroplasia with and without craniocervical instability. There is a protocol, but there is no consistent opinions. This in session, 3 neurosurgeons presented their experience and professional/personal decisions in each individual case. After this session, it was clear how important is to get more than one medical opinion when facing a case of medullar compression. What assessments and when, since birth, to reduce the probability of foramen magnum compression was also a discussion.

Dr. C. Giussani

In the slide: how and when to study the craniocervical junction in achondroplasia and when to do a decompression surgery: when the pacient is sintomatic or as a preventive intervention?

Limb lengthening was another theme, without any noverty to disclose. In Italy most achondroplasia cases start lengthening surgery around the age of 8 years old, but some years ago they started around 5.

One relevant theme presented was the beginning of a registry for achondroplasia in Italy. With a registry, its possible to know much more about this rare condition, including its natural history, allowing the development of new, wider and stronger social policies, better social integration, better medical assessments, more rights in the health system, among others.

Day two sessions:

Presentation of Mauro Banfi, physiotherapist and osteopath, on the use of osteopathy for preventing otites media in children with achondroplasia. The osteopathy techniques are used to work internally in the eustachian tube, the canal that connects the middle ear and the nasopharynx, where it can be drained fluid accumulates in the middle ear. Mauro did a workshop after his presentation to demostrate the techniques.

Another interesting project was presented after this: AISAC is supporting CEK bicycle to produce a bicycle for children from 3 to 6 years and other for children from 6 to 9 years.