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Clinical & Research Trials


Lysosomal storage conditions can be more severe and rapidly progressive or more slowly progressive, depending on the amount of proper protein functioning. In severe infantile lysosomal acid lipase deficiency patients (Wolman disease), there is little or no enzyme activity, and babies may look normal at birth, but in fact there is already severe accumulation of lipids in most cell types with damage to multiple organs. One challenge of enzyme therapy is that although it is possible to reverse disease symptoms, it is most effective at preventing disease progression. If there is too much damage to a cell, the damage may be irreversible. Another challenge is that babies who produce essentially no enzyme are more likely to launch an immune response against enzyme replacement therapy, requiring immune suppression, or sometimes making it impossible for a baby to tolerate the treatment. This is why some infants do not respond as well to enzyme replacement therapy as others.

Some brilliant physicians are researching enzyme replacement therapy infusions delivered during pregnancy through the umbilical vein. The preclinical studies were successful, and the outcome of the first prenatal patient to receive enzyme replacement therapy during pregnancy was presented at the LDN WorldSymposium last week. The patient had a condition called Pompe disease, a lysosomal storage disorder resulting in glycogen build up in the cells, which causes severe heart, lung and muscle damage and death in the first one or two years of life. The treatment was started at 24 weeks of pregnancy, and the baby was healthy at birth. Most babies with no enzyme activity, including the patient’s sibling, are born with severe heart problems and cannot move because of too much glycogen in the muscles.

Enzyme replacement therapy during pregnancy is being offered on a research basis for families with a fetus diagnosed with rapidly progressive, infantile LALD. If there are any families who have a pregnancy affected with infantile LALD (Wolman disease) or if you would like to know more about the study please send me a message through this site or email me at

The Lysosomal Acid Lipase Deficiency Registry

The LAL-D Registry is a place where your doctor can enter information about LAL-D patients’ medical condition but with no identifying information. This is essential, especially since LAL-D is rare because it helps researchers to learn more about the characteristics of LAL-D to increase scientific knowledge and lead to new discoveries. Please ask your doctor if you would like to be enrolled in the LAL-D registry so that your signs and symptoms or your child’s can be including in the body of knowledge on LAL-D.

To learn more about the LAL-D Registry, please visit ClinicalTrials.Gov LAL-D Registry

LAL-D Registry

Clinical Trials

Synageva BioPharma Corporation was bought by Alexion Pharmaceuticals, which continues to study sebelipase alfa under the commercial name Kanuma, a potential enzyme replacement therapy for LAL D. More information about clinical trials can be found at (search term “LAL Deficiency)”.

On September 1, 2015, Alexion announced that the European Commission approved Kanuma for the treatment of patients of all ages with LAL-D. The FDA granted Breakthrough Therapy designation for Kanuma for LAL Deficiency presenting in infants and accepted the Kanuma BLA for Priority Review. In addition, a New Drug Application for Kanuma has been submitted to Japan’s Ministry of Health, Labour and Welfare.