2nd Meeting on Rare Bone Diseases in Coimbra

More than 80 healthcare professionals, hospital administrator, industry, students

and patients organizations as ALPE Foundation participated in this second annual meeting, organized by Prof. Dr. Sérgio Sousa, a clinical geneticist at the Coimbra Pediatric University Hospital, Portugal.

Prof. Dr. Sérgio Sousa hosted the inaugural session with Prof. Dr. Fernando Regateiro, Hospital Director

The first session was an introduction of the work and activities of the Multidisciplinary Team of Rare Bone Disorders of Coimbra’s Hospital and University Centre, CHUC, that is in place in April 2015. Since then, the number of pediatric patients with skeletal dysplasia referred to the CHUC is gradually increasing, which also increase the team experience and expertise.

Dr. Ana Bento Roseiro, Coimbra Medicine University, presenting "Orthodontics in skeletal dysplasias"

It was also discussed ENT related complications in skeletal dysplasias as sleep apnea and surgical approaches by orthodontics to increase breathing capacity, as distraction osteogenesis, osteotomy, midface advancement using Le fort I, II and III techniques. This can be quite invasive surgeries but with positive results for patients, ameliorating functionality as breathing capacity and oral mastication.

Dr. Melita Irving, Guy’s and St Thomas,  London, UK, presenting the update on treatments in skeletal dysplasias. 

Dr. Melita Irving is a consultant in clinical genetics and joint head of service at Guy’s and St Thomas’ Hospital NHS Foundation Trust with the Evelina London Children’s Hospital. She is a trained general geneticist and sub-specializes in skeletal dysplasia, particularly achondroplasia and other genetic dwarfing conditions. She has developed clinical whole exome sequencing for skeletal dysplasia conditions and in Coimbra, Dr. Melita did a presentation on the current treatments in development or in clinical trials for achondroplasia and other dysplasias. And to highlight the relevance of the human resources specific needs to effectively conduct clinical trials, Diana Osmund Chan, a clinical trial nurse working at the same department, was also invited.

Discussion on Limb lengthening in achondroplasia and other skeletal dysplasias, several speakers

Another relevant session was on limb lengthening with the participation of clinicians from w major pediatric hospitals in Portugal, by Dr. João Cabral, CHUC and Dr. Pedro Jordão, Lisbon D. Estefânia, and a keynote by Dr. Stephanie Bohm, Karolinska University Hospital, that talked about the experience using the Fitbone device, with very positive results. In Portugal, this approach can start after 12 years-old and in Sweden. Karolinska is a national and international referral center for skeletal dysplasia and a full member of ERN BOND.

M. Céu Barreiros, from the Portuguese Osteogenesis Imperfecta Association, presenting the patient perspective on the transition of care.

The last session was dedicated to discuss and better understand the Multidisciplinary follow-up and transition from pediatric to adults care. Dra. Alice Mirante, co-coordinator of the multidisciplinary team for skeletal dysplasia in the pediatric hospital presented how the team is working, strong points and hurdles and Dr. Armando Malcata, Rheumatologist in the adult hospital, is since September 2018, coordinating the adults care, the transition and building up a team of adult clinicians to integrate the multidisciplinary team for adult patients. By now, more than 30 adults with diverse skeletal dysplasias have been seen in the adults' hospital. Also, two national patient organizations, APOI and ANDO, presents the patient view on the transition of care and their perspective on the need for a multidisciplinary approach to care in skeletal dysplasias. Both organizations created a comprehensive questionnaire about dedicated care for skeletal dysplasias, presented the results as also patient testimonials on this matter. 

The meeting ended with the presentation of 13 scientific abstracts.

See the full program here