Please join Drs. Ozlem Goker-Alpan and Ari Zimran as they discuss the latest developments in the treatments for lysosomal storage diseases.

Derralynn Hughes, MD, from the Royal Free London NHS Foundation Trust discusses the latest research about Fabry disease that was presented at WORLDSymposium 2021.To obtain CME credit, go to https://checkrare.com/learning-center/courses/

Rudolf Baumgartner, MD, Chief Medical Officer and Head of Clinical Development at Saniona, gives an overview of Prader-Willi syndrome (PWS)

Cedric Francois, MD, PhD, Co-Founder & CEO of Apellis Pharmaceuticals, discusses the results of the PEGASUS study evaluating the efficacy and safety of pegcetacoplan in patients with paroxysmal nocturnal hemoglobinuria (PNH).

Cedric Francois, MD, PhD, Co-Founder & CEO of Apellis Pharmaceuticals, gives an overview of paroxysmal nocturnal hemoglobinuria (PNH).

Owen A. O’Connor, Chief Scientific Officer at TG Therapeutics, gives an overview of follicular lymphoma (FL) and marginal zone lymphoma (MZL).

Owen A. O’Connor, Chief Scientific Officer at TG Therapeutics, describes the phase 2 UNITY-NHL study, the results of which led to the FDA’s approval of umbralisib.

Owen A. O’Connor, Chief Scientific Officer at TG Therapeutics, discusses umbralisib, which was approved for the treatment of relapsed or refractory follicular lymphoma (FL) and relapsed or refractory marginal zone lymphoma (MZL)

Rudolf Baumgartner, MD, Chief Medical Officer and Head of Clinical Development at Saniona, gives an overview of Prader-Willi syndrome (PWS) and tesomet, a drug combination under investigation for the treatment of PWS. As Dr. Baumgartner explains, PWS is a rare genetic endocrine condition that causes hypotonia and hyperphagia. It is caused by genetic abnormalities in the proximal long arm of chromosome 15. PWS is usually detected in childhood due to hypotonic and hyperphagic features of this disorder. While the obsession with food is the overwhelming symptom of PWS, the children have several other symptoms, including numerous cognitive and behavioral problems.Unfortunately, there is currently no treatment approved for this condition. However, efforts by organizations such as the Prader-Willi Syndrome Association are helping to raise awareness and funds to find therapies for this rare condition.

Miganush Stepanians, PhD, President and CEO of PROMETRIKA, a clinical research organization (CRO), discusses study designs used in rare disease clinical trials and the common struggles researchers face when designing and conducting these trials. Generally, the gold standard for regulatory approval remains the same - a randomized controlled, clinical trial - and that means studies using smaller patient populations have many challenges. As Dr. Stepanians states, the primary hurdle for them is severely reduced sample sizes. This is tied to an increased heterogeneity in these samples, which is another concern. At the same time, due to the reduced availability of participants, exclusion criteria often cannot be strict enough to reduce this heterogeneity. Other major concerns include a relative lack of knowledge about rare diseases and a lack of accessibility to rare disease clinical trials due to reduced study locations.