Latest Summaries

Jul 18, 2024| Cancers, Drug Development, Endocrine Disorders

Post Hoc Analysis of Levoketoconazole in Patients With Cushing’s Syndrome

James Meyer, PharmD, Senior Director of Publications and…
Jul 17, 2024| Advocacy, Diagnosis, Endocrine Disorders

Overview of Hypoglycemia

Marilyn Tan, MD, Chief of the Endocrine Clinic…
Jul 16, 2024| Drug Development, Endocrine Disorders

Investigational Therapy for the Potential Treatment of Congenital Hyperinsulinism

Jairo Noreña, MD, endocrinology fellow at Stanford University,…
Jul 12, 2024| Drug Development, Endocrine Disorders, Treatment

Current Treatment Options for Patients With Cushing’s Syndrome

Mario Maldonado, MD, Head of Clinical Development for…
Jul 11, 2024| Advocacy, Endocrine Disorders, Gastrointestinal Diseases, Metabolic Disorders

Psychosocial Support for Patients With Lipodystrophy

Kate Stratton, Program Coordinator for Lipodystrophy United, discusses…
Jul 9, 2024| Advocacy, Cancers, Diagnosis, Hematologic Disorders, Treatment

Overview of Erdheim-Chester Disease (ECD)

Diane Schriner, Vice President of Erdheim-Chester Disease Global…
Jun 26, 2024| Cancers, Drug Development, Endocrine Disorders, Musculoskeletal Diseases

Positive Results in Trials of First Oral Investigational Drug for Acromegaly

Alan Krasner, MD, Chief Endocrinologist at Crinetics Pharmaceuticals,…

Type 1 Galactosemia: Significant Unmet Need, Lifelong Complications, and Current Management

Type 1 galactosemia is a rare genetic disease that can be life-threatening in newborns and can lead to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women.

Cutaneous T-Cell Lymphoma

Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders.

Myasthenia Gravis and the Complement System

James F Howard Jr, MD, Professor of Neurology, Medicine & Allied Health at The University of North Carolina at Chapel Hill, highlights the connection between the complement system and myasthenia gravis in regards to the pathophysiology and treatment of this rare disease.

New Guidance to Diagnose and Treat Tumor-induced Osteomalacia (TIO)

Aliya Khan, MD, Clinical Professor of Medicine at McMaster University, highlights the best practices to diagnose and treat tumor induced osteomalacia (TIO) based on the recently published global guidance document in the Journal of Internal Medicine.

Learn About WHIM Syndrome

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with neutropenia that typically presents in childhood or adolescence, predominantly caused by pathogenic variants in the CXCR4 chemokine receptor gene.

WHIM Syndrome Learning Center

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be delayed, sometimes even into adulthood.

Tenosynovial Giant Cell Tumors (TGCT) Explained

Richard F. Riedel, MD, Medical Oncologist, Duke Health, discusses tyenosynovial giant cell tumors (TGCT)

Assessing, Monitoring, and Managing Respiratory Involvement in Lysosomal Disorders

Ozlem Gore-Alpan, MD of LDRTC and John Bach, MD, Professor of Neurology at Rutgers School of Medicine discuss best practices to manage respiratory complications in persons with lysosomal disorders.

Warm Autoimmune Hemolytic Anemia (wAIHA)

Irina Murakhovskaya, MD, of the Montefiore Medical Center, Albert Einstein College of Medicine, in New York, NY and Bruno Fattizzo, MD, of the University of Milan and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, in Milan, Italy, describes current best practices for diagnosing and managing patients with wAIHA.

Managing Cardiomyopathies in Lysosomal Disorders

Ozlem Goker-Alpan, MD, Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and John Jefferies, MD discuss lysomal orders.

Cutaneous T-Cell Lymphoma Learning Center

Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders. It is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people.

Tenosynovial Giant Cell Tumor (TGCT)

Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).

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