The first clue may simply be a swollen stomach. Or you may see yellowish discoloration of the skin, the telltale sign of jaundice. Or it may begin with difficulty swallowing. Any of these may be the only symptom of Niemann-Pick, a rare disease in its early stage.
Niemann-Pick disease, or NPD, is a rare, inherited lipid storage disorder that is generally divided into 3 types: Types A and B, which together are often referred to as acid sphingomyelinase deficiency (ASMD), and type C. Worldwide, only 1 in 250,000 people have type A or B, and 1 in 150,000 people have type C. There is no cure for NPD, and treatment provides only supportive care.
October is Global Niemann-Pick Disease Awareness Month, when attention is turned to promoting fundraising and awareness of this deadly disease, and to finding new treatments and a cure. At Connexion Healthcare, we understand the importance of raising awareness of rare diseases through clear and timely communications, and during October, we are spotlighting Niemann-Pick disease.
Niemann-Pick disease types A and B are caused by a deficiency of the acid sphingomyelinase (ASM) enzyme in the body’s cells, which causes fatty materials called lipids to accumulate in the liver, spleen, lungs, brain, and bone marrow. NPD types A and B represent opposite ends of a spectrum of the same disease. Patients with NPD type A generally produce little to no ASM; patients with type B have about 10% of the normal levels of ASM. NPD type C differs from types A and B in that it is not caused by the enzyme deficiency; however, it has the same end result, that is, the accumulation of fatty acids in the cells.
Symptoms vary, depending on the NPD type, and the early stages of the disease may cause only a few symptoms.
- In NPD type A, also called infantile neurovisceral ASMD, lipid accumulation causes severe neurologic disease that has an early onset. Children with NPD type A usually do not survive beyond the age of 4 years. Symptoms, which include abdominal swelling, a cherry red spot in the eye, feeding difficulties, and loss of early motor skills, usually appear during the first few months of life. Type A is seen more often in families of Jewish ancestry than in the general population.
- In NPD type B, referred to as chronic visceral ASMD, generally there is little to no neurologic involvement and patients may survive into adulthood. However, these patients usually have an enlarged liver and spleen, as well as heart disease, and often have respiratory problems.
- In NPD type C, patients may first experience signs and symptoms during childhood, which may initially be diagnosed as a learning disability or delayed development of fine motor skills. It is not unusual for families to spend years searching for a correct diagnosis. In some patients symptoms may progress to extensive brain damage and progressive loss of vision and hearing, while in other patients symptoms may not appear until adulthood. Most children with NPD type C do not reach their 20th birthday. NPD type C is always fatal.
Patients with NPD can have hope for the future, thanks to the ongoing efforts of many. The National Niemann-Pick Disease Foundation (NNPDF) in the United States is only one of numerous organizations worldwide promoting awareness, providing supportive services for patients and families, and supporting research to find treatments and a cure for all types of NPD. The NNPDF alone has raised more than $5.5 million to help fund research, some of which has led to genetic discoveries that are now being used in genetic testing and in further research into the disease.
For more information, visit: www.nnpdf.org.
About the Connexion Healthcare Rare Disease Center of Excellence
Connexion Healthcare is a full-service global provider of strategic medical and scientific communications with decades of experience providing exceptional service to the pharmaceutical industry. We provide services through 2 Centers of Excellence—Oncology and Rare Disease—and possess core expertise in these therapeutic areas and their marketplaces.
The Connexion Healthcare Rare Disease Center of Excellence specializes in communicating the science behind rare diseases and orphan drugs. We strategically partner with industry leaders in the rare disease community to proactively connect all stakeholders in launching products to underserved patient populations. Our team comprises skilled communications experts who plan, develop, and disseminate scientific communications based on their advanced knowledge of the science, the patient journey, healthcare providers, and the orphan drug approval process.
At Connexion Healthcare, our cross-functional teams navigate complicated treatment and market landscapes by elucidating the appropriate pathways to brand success. We understand how brand strategy drives market share. Since launching its dedicated Rare Disease Center of Excellence, Connexion Healthcare has developed prelaunch, launch, and postlaunch communications in numerous rare diseases and disorders: congenital and genetic, movement, metabolic, and lysosomal storage disorders; lung, blood, skin, and endocrine diseases; and rare cancers.
For further information regarding the Rare Disease Center of Excellence at Connexion Healthcare and how we can develop rare disease communications to differentiate therapies by their unique attributes, contact:
Susan Stein, MPH
Rare Disease Center of Excellence