Rare and Orphan Diseases

Guest: John Brandsema, MD

As patients with Duchenne muscular dystrophy (DMD) age, their treatment regimens, considerations, and goals change. That’s why Dr. John Brandsema is here to talk about how we can best treat and support patients with DMD throughout their entire care journey. Dr. Brandsema is the Neuromuscular Section Head at the Children’s Hospital of Philadelphia.

Guest: John Brandsema, MD

Between 60 and 70 percent of patients with Duchenne muscular dystrophy (DMD) also have a diagnosable neurobehavioral phenotype like autism, ADHD, and anxiety. Here to talk about these common neurobehavioral issues in patients with DMD and how we can manage them is Dr. John Brandsema, Neuromuscular Section Head at the Children’s Hospital of Philadelphia.

Host: Charles Turck, PharmD, BCPS, BCCCP

Guest: John Brandsema, MD

The gene therapy delandistrogene moxeparvovec was recently approved for patients with Duchenne muscular dystrophy (DMD) who are at least 4 years old. This expanded approval is based on the efficacy and safety results from the EMBARK trial. Joining Dr. Charles Turck to break down those key findings and the implications of this advancement in DMD treatment is Dr. John Brandsema. Dr. Brandsema is the Neuromuscular Section Head at the Children’s Hospital of Philadelphia, where one of the clinical trials for this gene therapy took place.

Host: Matt Birnholz, MD

Guest: Saad Kenderian M.B, Ch.B

CAR T-cell therapy has been revolutionary in the treatment of blood cancers like chronic lymphocytic leukemia and multiple myeloma, and according to recent research, this therapeutic approach may also help patients with thyroid cancer. However, there are several challenges associated with applying this technology to target solid tumors in thyroid cancer, like tumor heterogeneity and resistance. Joining Dr. Matt Birnholz to talk about these challenges and how a research team is working to overcome them is Dr. Saad J. Kenderian, Assistant Professor of Oncology, Immunology, and Medicine at the Mayo Clinic in Rochester, Minnesota.

Host: Sandra E. Kurtin, PhD, ANP-BC, FAPO

Guest: Beth Faiman PhD, MSN, APN-BC,BMTCN, AOCN, FAAN, FAPO

On-demand webcast of expert faculty presentation and case discussion on treating patients with CLL and MCL with non-covalent BTK inhibitors, as presented at CCO and PCE’s APPlexus Hot Topics 2024.

Host: Peter E. Newburger, MD

WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.

Host: Peter E. Newburger, MD

WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.

Host: Teresa K. Tarrant, MD

WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.

Host: Jolan Walter, MD, PHD

WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.

Host: Teresa K. Tarrant, MD

WHIM syndrome is a rare, inherited, combined immunodeficiency disease caused by reduced mobilization and trafficking of white blood cells from the bone marrow due to over-signaling of the CXCR4/CXCL12 pathway. WHIM syndrome is named for its four common clinical findings. The diagnostic challenges arise because not all symptoms are required for a diagnosis and all of them do not appear at the same time. Patients have deficient blood levels of neutrophils (neutropenia) and lymphocytes (lymphopenia), which results in frequent, recurrent infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to certain types of cancer. Our program goal is to identify risk factors associated with WHIM syndrome, focusing on making an earlier diagnosis that can impact long-term outcomes, timely treatment options and ultimately improved quality of life for patients.