International Journal of

Rare Diseases and DisordersISSN: 2643-4571

Early Online

 Open Access DOI:10.23937/2643-4571/1710030

A Qualitative Methodology to Support the Evaluation of Novel Treatments for Hyperphagia in People with Prader-Willi Syndrome

Mindy Leffler, MEd, Sonya J Elder, PhD, Siri Bolding, PhD, Megan Hefner, MS, Jennifer L Miller, MD Parisa Salehi, MD, Anthony J Holland, MD, Anish Bhatnagar, MD, Kristen Yen, MS, Patricia C Hirano, MPH and Kristina Davis, PhD

Article Type: Original Article | First Published: June 30, 2021

Assessing change in symptoms affecting people with Prader Willi Syndrome (PWS), a rare disease, is complicated by the influence of different levels of food security procedures and the impact of immediate circumstances on symptom presentation and severity. We report on the use of qualitative interviews to collect information on behavioral change and on the impact of factors specific to individual participants with PWS in a clinical trial. Soleno Therapeutics’ Phase 3 program consists of a doubl...

 Open Access DOI:10.23937/2643-4571/1710029

Defining a Growing and Maturing Skeleton and its Relevance in Diseases that Affect Skeletal Growth, Such as X-Linked Hypophosphataemia (XLH)

Signe Beck-Nielsen, Nella Augusta Greggio and Lars HagenÓ“s

Article Type: Review Article | First Published: April 17, 2021

The human skeleton is composed of bone, a living tissue that undergoes constant development throughout life. It is well established that changes in bone metabolism during the developmental stages of growth, modelling and remodelling determine long-lasting physiological parameters, such as final height achieved, peak bone mass, bone quality and bone health. A complex interplay of environmental, genetic, nutritional, physiological and behavioural factors plays a role in these processes. These modi...

Volume 4
Issue 1