2025
Guidelines & Clinical Trials
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.
Publications
Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia – Journal of Clinical Endocrinology and Metabolism
X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline – Journal of Clinical Endocrinology and Metabolism
Current Practices in Monitoring Children and Adults With X-linked Hypophosphatemia: A Global Survey of Expert Experience – Journal of Clinical Endocrinology and Metabolism
Methodology for the international working group clinical practice guidelines on X-linked hypophosphatemia in children and adults – Journal of Bone and Mineral Metabolism
X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline – Journal of Clinical Endocrinology and Metabolism
Trial Forge Guidance 5: ethical considerations in randomised Studies Within A Trial (SWATs) – Trials
2024
Guidelines & Clinical Trials
Birt-Hogg-Dubé (BHD) syndrome is a rare complex genetic skin disorder (genodermatosis). It may cause skin bumps called fibrofolliculomas, which are generally located on the head, face and upper body. It can also cause lung cysts, collapsed lungs and kidney cancer. This guideline was developed by a group of international experts co-ordinated through the European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS)
Pulmonary alveolar proteinosis (PAP) is a rare lung disease that occurs when the surfactant which coats the alveoli, also called the air sacs, in the lungs builds up and prevents oxygen from passing through into the blood. This can make breathing difficult. These guidelines were developed by a European Respiratory Society Task Force committee composed of clinicians, methodologists, and patients with experience in PAP.
Publications
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome– European Journal of Human Genetics
Guidelines for the Diagnosis and Management of Pulmonary Alveolar Proteinosis – European Respiratory Journal
2023
Guidelines & Clinical Trials
Paget’s disease of bone (PDB) disrupts the normal cycle of bone renewal, causing bones to become weakened and possibly deformed. Paget’s disease of bone can affect one bone or several bones. Commonly affected areas include the pelvis, spine and skull. Symptoms can include: bone or joint pain; skin feeling warm over the affected bone; changes in bone shape; a shooting pain that travels along or across the body, numbness and tingling or balance problems. PDB used to be a common disease but is becoming rare, and hereditary PDB is a rare disease. This multi-centre, investigator led, international trial showed that genetic testing in people with a family history of PDB coupled with radionuclide bone scan examination in those that test positive can be used to detect the disease at an early stage and that prophylactic treatment with zoledronic acid (ZA) in these individuals can help stall the development and progression of early Paget’s disease.
Publications
Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget’s disease of bone – Annals of the Rheumatic Diseases