Synonyms: Chronic visceral ASMD | NPD-B | Niemann-Pick disease type B
A rare autosomal recessive chronic acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly growth retardation interstitial lung disease and absence of neurodegenerative disorders.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Chronic visceral acid sphingomyelinase deficiency?
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Advocacy Organizations
Biliary Atresia and Liver Care Africa
Biliary Atresia and Liver Care Africa (BALCA) exists to raise awareness, support families, and advocate for better care for children and individuals living with biliary atresia and other liver diseases across East Africa, giving hope, information, and a strong support system while improving access to treatment and aftercare.
Breathe Support Network
MISSION STATEMENT The Breathe Support Networks mission is to provide support and education for pulmonary fibrosis patients and their families, helping them to better #LIVEwithPF. This includes, but is not limited to: - education about pulmonary fibrosis - guiding patients and families on how to talk to their healthcare team - providing tips to live a healthier more productive life - providing information about other pulmonary fibrosis resources
Canadian Society for Mucopolysaccharide & Related Diseases Inc.
The Canadian MPS Society is a charitable organization dedicated to supporting individuals and families affected by mucopolysaccharidoses (MPS) and related lysosomal storage disorders. We are helping families live their best lives.
Charcot-Marie-Tooth Association
Our mission … to support the development of new treatments for CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision … a world without CMT. CMTA was started by patients in 1986, and to this day is powered by a community of patients who are engaged in helping carry out and support our mission.
Emory Lysosomal Storage Disease Center
The Emory Lysosomal and Peroxisomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment providing comprehensive and compassionate care for all of our patients affected by lysosomal storage diseases.
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Lysosomal Storage Disorders Society – Pakistan
LSD Society Pakistan is a registered Non-Profit organization set up by a group of parents dedicated and committed to improve the lives of Lysosomal Storage Disease patients in Pakistan by advocating for patients’ rights and creating awareness in general public. The objective of LSD Society is to advocate with the government and other stakeholders to establish a sustainable healthcare system
Lysosomal Storage Disorders Support Society
LSDSS endeavors to transform the life of children affected by rare Lysosomal Storage Disorders. Our mission is to increase awareness about the prevention of such disorders in future offspring as well as counsel the affected patients and families on how to cope with existing conditions, ensuring no patient or family living with an LSD ever feels alone.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Wylder Nation Foundation
To improve the lives of individuals diagnosed with a Lysosomal Storage Disease by accelerating the discovery and development of treatment options
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Clinical Trials
For a list of clinical trials in this disease area, please click here.