Publications and Guidelines

X-linked hypophophataemia is a genetic condition where patients have high levels of a hormone called FGF23 in the blood. This causes the kidneys to lose phosphate, which is then lost from the bones. Children with this condition develop rickets and adults develop osteomalacia – ‘soft bones’. It can cause the legs to become bowed, joints to be stiff and sore and sometimes patients can have small cracks in the bone called pseudofractures. An international group developed guidance for diagnosis and management of XLH, see links below. Patients from the Canadian XLH Network contributed to these papers. This condition is included in ERN BOND – European Reference Network on Rare Bone Diseases and represented in the European Registry for Rare Endocrine and Bone Conditions – EuRREB | | EuRRECa and EuRR-Bone.

Trial Forge is an initiative from the University of Aberdeen to improve efficiency in clinical trials. It asks ‘Is there a better way to do clinical trials?’ The idea is that trials themselves should have designs based on scientific evidence, just as we use trials to gain evidence about treatments. Evidence on how to do trials in a better way is collected via Studies Within A Trial (SWAT). For more information on SWATs, see the HRB-TMRN Overview.

The paper is about how research ethics committees look at studies that are within a trial asking questions about improving trial design. These studies are thought to be low risk to patients and do not take up much of their time in the trial. But different reviewers have different opinions on how these studies should be assessed. Some guidance on how to do this is outlined in this paper. READ HERE

Autoimmune Pulmonary Alveolar Proteinosis (Autoimmune PAP) is a rare lung disease where a build-up of a substance called surfactant prevents oxygen from entering the bloodstream. Molgramostim – a recombinant form of granulocyte-macrophage colony-stimulating factor (GM-CSF) – has been found to help combat this build-up.  The trial found that daily inhaled molgramostim can significantly improve both the breathing function and quality of life of patients with this condition. This is the largest ever study in aPAP, a rare lung disease which effects 7 people per million. READ HERE

Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH) is a rare lung condition where neuroendocrine cells in the airways grow abnormally. This can cause symptoms like a chronic cough, wheezing, and shortness of breath. This study aims to describe the clinical characteristics of patients with DIPNECH in a large multinational case series, to guide and inform future care and research. READ HERE

Osteogenesis imperfecta (OI) is a rare disorder causing multiple fractures throughout life. This work presents the baseline characteristics of participants in the Treatment of Osteogenesis Imperfecta with Parathyroid Hormone and Zoledronic Acid (TOPaZ) trial. TOPaZ aims to determine whether teriparatide and zoledronic acid better reduce the risk of clinical fractures compared to standard care. READ HERE

Diffuse cystic lung diseases (DCLDs) represent a group of pathophysiologically heterogeneous entities that share a common radiologic phenotype of multiple thin-walled pulmonary cysts. This includes lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis, Birt-Hogg-Dubé syndrome, and lymphoid interstitial pneumonia. This work provides a practical framework of the most appropriate/ current diagnostic and management approaches for evaluating patients with DCLD. READ HERE