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Ongoing Research Projects

One of the main purposes of the Nordic database is to initiate and promote Nordic research projects and common treatment strategies. The following Raredis projects runs at the moment

Craniofacial, Scaphocephaly project

Scaphocephaly (premature fusion of the sagittal suture) is the most common form of non-syndromic craniosynostosis in the Nordic countries, and the condition is most often treated surgically in infancy. The aetiology is unknown, but genetic factors and intrauterine constraint have been suggested to play a role. The condition often leads to an extreme dolichocephalic head shape. The objectives of the treatment are to prevent increased intracranial pressure and to normalize skull shape and subsequent growth. In the Nordic countries treatment of scaphocephaly has been centralized to a few centers (less than 10). The treatment protocols and surgical techniques vary between the centers. The project is a Nordic multicenter study aiming at solving a number of significant clinical problems related to this condition i.e. 1.the surgical outcome in non-syndromic scaphocephaly, in terms of head shape, is similar between the Nordic centers; 2.the surgical parameters i.e. duration of operation, use and amount of blood transfusion, length of ICU-stay, and length of admission are similar between the centers; 3.the cosmetic outcome of surgery is the same at the different centers; both in terms of the parents’ evaluation and the surgeon’s evaluation. Data will be analyzed when we have registered 100 children from the Nordic centers. The responsible center is the Copenhagen Center, Prof. Sven Kreiborg and Hanne Hove, and participating centers are Helsinki, Stockholm, Oslo, and Skejby.

Status: Statistical processing started, preliminary results presented in raredis meeting May 2013.

Neurofibromatosis project, NF1

Neurofibromatosis 1 (NF1) is one of the more frequent rare diseases characterized by skin manifestations (multiple café au lait spots, axillary and inguinal freckling, multiple discrete cutaneous neurofibromas), and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. The project will register all patients at each center and subsequently form the basis for a Nordic PhD project within this topic.The participating centers are the Copenhagen and Oslo center, Oslo (Ketil Heimdal) is in charge.

Bisfosphonates in Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a group of disorders characterized by fractures with minimal or absent trauma, dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal stature, and normal lifespan. The severe types of OI are treated with bisphosphonates, analogs of pyrophosphate that decrease bone resorption. The aim of the current project is to form a common Nordic OI protocol for the treatment of children with bisphosphates, and initiate common Nordic research protocols for these children.  

Status:  First patients included using paperbased forms. Web-based Registration forms under implementation.

Angelmann PhD project

A danish PhD project concerning Angelmann syndrome has been initiated in 2009 using Raredis for registration.

Status: PhD defence presentation June 17, 2013


 Nordic Vascular Ehlers-Danlos registration

Status: Web-based registration forms under implementation

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