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.

Derralynn Hughes, MD, Professor of Experimental Haematology at the University College London provides an overview of the exciting new research presented at ASH 2020 focused on Gaucher disease.

The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Takeda Pharmaceuticals U.S.A., Inc.

To earn a CME credit, go to https://checkrare.com/learning-center/courses/

Neuromyelitis optica spectrum disorder (NMOSD) is a rare auto-immune that can often be confused with more common conditions, like multiple sclerosis. Ophthalmologist are often the first persons to see these patients but they may be unfamiliar with the symptoms of NMOSD and that can lead to delays in diagnosis.

This CME module about suspecting and diagnosing managing patients with NMOSD during an ophthalmologic visit is hosted by Michael Levy, MD, PhD, Associate Neurologist at Massachusetts General Hospital and Prem Subramanian, MD, PhD, Professor of Ophthalmology at the University of Colorado Hospital.

The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Alexion Pharmaceuticals.

To earn a CME credit, go to https://checkrare.com/learning-center/courses/

Richard N Channick, MD, Professor of Medicine at David Geffen School of Medicine at UCLA provides an overview of the latest research presented at CHEST 2020 focused on pulmonary arterial hypertension (PAH).

The CME is jointly provided by American Academy of CME, Inc. and CheckRare CE, Inc, and supported by an educational grant from Actelion Pharmaceuticals US, Inc., a Janssen Pharmaceutical Company of Johnson & Johnson.

To earn a CME credit, go to https://checkrare.com/learning-center/courses/

Ozlem Goker-Alpan, MD, Founder and President of the Lysosomal & Rare Disorders Research & Treatment Center, provides an overview of Fabry disease research highlights presented at WORLDSymposium.

This CME activity is possible through an educational grant from Sanofi Genzyme.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-fabry-disease-highlights-from-worldsymposium-2020/

Neal Weinreb, MD, FACP, Regional Coordinator and Chair of the International Collaborative Gaucher Group provides an overview of Gaucher disease research highlights presented at WORLDSymposium.

This CME activity is possible through an educational grant from Sanofi Genzyme.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-gaucher-disease-highlights-from-worldsymposium-2020/

Barbara K. Burton, MD from the Northwestern University Feinberg School of Medicine
Chicago, IL provides an overview of Mucopolysaccharidoses (MPSs) Highlights from WORLDSymposium.

This CME activity is possible through an educational grant from Ultragenyx Pharmaceutical Inc

To obtain credit for this activity, please visit https://checkrare.com/learning/p-2020world-mps-highlights-from-worldsymposium-2020/

Morie A Gertz, MD, MACP, Professor of Medicine at the Mayo Clinic College of Medicine and Science in Rochester, Minnesota discusses signs and symptoms that are suspicious of ATTR amyloidosis.

This CME activity is possible through an educational grants from Akcea Therapeutics and Alnylam Pharmaceuticals.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-managing-attr-module1-suspecting-attr-amyloidosis/