Rare Endocrinology News
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Cholesteryl ester storage disease (CESD)
Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver
Prevalence
Age of Onset
ICD-10
E75.5
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
Rare View
Cholesteryl ester storage disease (CESD) is a rare autosomal-recessive inheritable lysosomal storage disease. It causes a buildup of lipidsin the tissues and organs of the body and calcium deposits in the adrenal glands. The liver is most severely affected in most cases.†
5 Facts you should know
FACT
Disorder of infancy with massive infiltration of the liver and spleen by macrophages filled with cholesteryl esters and triglycerides
FACT
This disease occurs in the first few weeks of life
FACT
Calcium deposits in the adrenal glands cause them to harden
FACT
Bowel movements contain excess fat, which results in steatorrhea
FACT
Infants feed poorly, vomit, and have an enlarged spleen and liver
Common signs & symptoms
Hepatomegaly
Arteriosclerosis
Diarrhea
Watery stool
Hepatic failure
Liver failure
Hypercholesterolemia
Hypertriglyceridemia
Nausea and vomiting
Splenomegaly
Increased spleen size
Current treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
Sebelipase alfa
(Brand name: Kanuma) Manufactured by Alexion Pharmaceuticals
FDA-approved indication: Indicated for the treatment of patients with a diagnosis of lysosomal acid Lipase (LAL) deficiency.
Top Clinical Trials
| Title | Description | Phases | Status | Interventions | More Information |
|---|---|---|---|---|---|
| In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases | The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases. | Phase 1 | Recruiting | Drug: Aldurazyme (laronidase) | More Info |
| Human Placental-Derived Stem Cell Transplantation | The purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant disorders who require a stem cell transplant. Patients will get either full dose (high-intensity) or lower dose (low intensity) chemo- and immunotherapy followed by a stem cell transplantation with UCB and HPDSC. | Phase 1 | Active, not recruiting | Drug: Human Placental Derived Stem Cell | More Info |
Top Treatments in Research
| Agent | Class/Mechanism of Action | Development Status | Company | Clinical Studies | More Information |
|---|---|---|---|---|---|
| Aldurazyme (laronidase) | ALDURAZYME ® (laronidase) is an enzyme replacement therapy designed to address the underlying cause of mucopolysaccharidosis I (MPS I). | Phase 1 | University of California, San Francisco | More Info | More Info |
| Human Placental Derived Stem Cell | Human placenta-derived cells have mesenchymal stem/progenitor cell potential Mesenchymal stem/progenitor cells (MSCs) are widely distributed in a variety of tissues in the adult human body | Phase 1 | New York Medical College | More Info | More Info |
† Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 https://rarediseases.info.nih.gov