Pompe Disease

May 21, 2025

Lysosomal Storage Disorders, or LSDs, are rare genetic conditions that may not make headlines, but they affect thousands worldwide, often with life-changing consequences. LSDs happen when the body’s lysosomes, tiny cellular recycling centers, fail to break down waste materials due to missing or faulty enzymes. This...

Feb 11, 2025

Immix Biopharma's NXC-201 Receives FDA RMAT Designation for Relapsed/Refractory AL Amyloidosis Immix Biopharma has received the FDA’s RMAT (Regenerative Medicine Advanced Therapy) designation for NXC-201, a sterically optimized CAR-T therapy for relapsed/refractory AL amyloidosis. The designation is granted to r...

Nov 01, 2024

Imagine a disease that stealthily incapacitates the heart, liver, and skeletal muscles—slowly breaking them down due to the absence of a crucial protein. That's the story of Pompe disease, also known as glycogen storage disease type II (GSDII). Caused by a gene mutation that blocks the body’s ability to break down ...

Oct 16, 2024

Pompe disease is a rare genetic disorder that presents a spectrum of severity, with varying rates of progression and ages of onset. Symptoms can appear anywhere from infancy to late adulthood, with earlier onset generally associated with more rapid progression and increased severity. At all ages, the disease is mar...

Sep 30, 2024

The treatment landscape for Pompe disease is undergoing a remarkable shift, especially within emerging markets, as increased awareness, regulatory advancements, and broader access to cutting-edge therapies begin to reshape the future for patients. Pompe disease is a rare and inherited genetic disorder caused by a d...

Sep 30, 2024

An orphan disease is any disease that affects only a small percentage of the population. As many as 7,000 rare diseases affect human life. The total number of Americans living with a rare disease is estimated at between 25 and 30 million. In the EU, rare disease patients comprise 6% to 8 % of the population. One...

Sep 30, 2024

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. There are three types of Pompe disease, which differ in severity and the ag...

Sep 30, 2024

Pompe disease, an inherited rare disease, is often fatal and incapacitates the heart and skeletal muscles. The absence of an essential protein due to the mutation in a gene encoding GAA, leads to a complex buildup of sugar, hence, damaging the heart, liver, and other organs. The mutated gene hampers the lysosomal-m...

Sep 30, 2024

Pompe disease is an inherited rare disease, often fatal, with the potential to damage the heart, liver, and skeletal muscles. Absence of an essential protein, Due to the mutation in a gene encoding GAA, there is an absence of a critical protein leading to a complex buildup of sugar, hence, damaging the heart, liver...

Jan 24, 2023

FDA Approves BeiGene’s Brukinsa for CLL/SLL BeiGene's Brukinsa (zanubrutinib) for chronic lymphocytic leukemia (CLL) and small lymphocytic lymphoma (SLL) has been approved by the US Food and Drug Administration. CLL is a common type of leukemia, accounting for approximately 25% of all new cases each year. SLL is...