Mark S. Freedman, Professor of Neurology at the University of Ottawa in Ottawa, and colleagues randomized 487 patients in a 5:03 ratio to treatment with either 250 mcg interferon beta-1b every other day or placebo subcutaneous injection.
The researchers hope to their findings optimize them to better understand the causes of the disease and enable them, the diagnostic possibilities for patients with SHOX gene mutations. ‘Patients who suffer from their short stature often have a great need to be able to name the cause even if it is not possible to treat the cause, benefit patients with mutations of the SHOX gene from a treatment of the symptoms ‘with growth hormones, explained Professor Rappold.. Growth hormone treatmentgenes that are responsible for the growth and development, will be more or less frequently required during the different phases of growth. Mutations in these genes can in particular in the regulatory sequences factor factor for disease.To standard diagnostic standard diagnostic tests Invite and WD scoring system, the research team data gathered on 40 kids by WD and 58 children with liver problems others as a WD, aged 1 to 21 years. Both groups were symptom free with the prevailing signs a liver disease being elevated aminotransferases . Molecular basis and hepatic copper test were also carried out diagnosis diagnosis of WD.