Clinical trials: Acid Sphingomyelinase Deficiency, open to volunteers
Splenomegaly, Splenectomy
Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease
The goal of this clinical trial is to optimise and facilitate screening for Acid SphingoMyelinase Deficiency (ASMD) disease, by evaluating acid sphingomyelinase activity and, where appropriate, LysoSM levels in a cohort of 200…
- Conditions
- Splenomegaly, Splenectomy, Thrombopenia, Interstitial Lung Disease (ILD)
- Trial name
- Niemann-PID (NCT06869499)
- Testing
- Blood sampling for dosage
- Where
- France
- Volunteers
- 200 people
- Sponsor
- Wladimir MAUHIN, Dr
Niemann-Pick Diseases, Acid Sphingomyelinase Deficiency
A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)
US, multicenter, cohort, open label observational study with primary data collection. Ancillary protocol-specified procedures to address the study objectives (eg, assessment of ADA) may be considered outside the standard of care…
- Trial name
- NCT06192576
- Testing
- Olipudase alfa
- Where
- 6 sites in United States
- Volunteers
- 10 people
- Sponsor
- Sanofi
Gaucher Disease
Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan
- Trial name
- NCT06258577
- Where
- Taiwan
- Volunteers
- 50 people
- Sponsor
- Chung-Hsing Wang
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Gaucher Disease, Acid SphingoMyelinase Deficiency
GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma
The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology.
- Trial name
- NCT05992532
- Where
- 23 sites in Spain
- Volunteers
- 210 people
- Sponsor
- Fundación Española de Hematología y Hemoterapía
Acid Sphingomyelinase Deficiency (ASMD), Niemann Pick Disease
National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
The goal of this study is to describe the natural history of ASMD in adult and paediatric patients with or without specific treatment in order to assess the impact of the disease on their daily lives and quality of life.
- Trial name
- FASMD (NCT06985212)
- Where
- France
- Volunteers
- 200 people
- Sponsor
- Wladimir MAUHIN, Dr