Acid sphingomyelinase deficiency

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ORPHA:618899
Who is this for?
Show terms as
1FDA treatments3Active trials3Specialists8Treatment centers1Financial resources

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

Orphanet ↗NORD ↗

FDA & Trial Timeline

7 events
Nov 2025Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)

Sohag University — NA

TrialACTIVE NOT RECRUITING
May 2025National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children

Wladimir MAUHIN, Dr

TrialNOT YET RECRUITING
May 2025Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease

Wladimir MAUHIN, Dr — NA

TrialNOT YET RECRUITING
May 2024Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency

Chung-Hsing Wang

TrialNOT YET RECRUITING
Apr 2024A 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)

Sanofi

TrialRECRUITING
May 2021ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

Albert Einstein College of Medicine — NA

TrialENROLLING BY INVITATION
Jul 2017National Cohort on Congenital Defects of the Eye

Institut National de la Santé Et de la Recherche Médicale, France

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

XENPOZYME

OLIPUDASE ALFA-RPCP· Genzyme Corporation■ Boxed WarningOrphan Drug

Treatment of adult patients with non-neurological manifestations of acid sphingomyelinase deficiency (ASMD type B and type A/B). First approved enzyme replacement therapy for ASMD.

Clinical Trials

3 recruitingView all trials with filters →
N/A2 trials
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
N/A
Enrolling by Invitation
PI: Melissa Wasserstein, MD (Albert Einstein College of Medicine) · Sites: Brooklyn, New York; Brooklyn, New York +7 more · Age: 04 yrs
Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)
N/A
Active
· Sites: Sohag
Other1 trial
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)
Actively Recruiting
· Sites: Chicago, Illinois; Cincinnati, Ohio +3 more · Age: 02 yrs

Specialists

3 foundView all specialists →
MM
Melissa Wasserstein, MD
Brooklyn, New York
Specialist

Rare Disease Specialist

WD
Wladimir MAUHIN, Doctor
Paris, France
Specialist

Rare Disease Specialist

PI on 2 active trials
CH
Carla EM Hollak
Specialist
PI on 2 active trials

Treatment Centers

8 centers
⚗️ Trial Site

Mount Sinai Hospital

📍 New York, New York

⚗️ Trial Site

Sohag University Hospital

📍 Sohag

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

Financial Resources

1 resources
XENPOZYME(OLIPUDASE ALFA-RPCP)Genzyme Corporation

Travel Grants

No travel grants are currently matched to Acid sphingomyelinase deficiency.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Acid sphingomyelinase deficiency

Disease timeline:

New recruiting trial: National Cohort on Congenital Defects of the Eye

A new clinical trial is recruiting patients for Acid sphingomyelinase deficiency

New recruiting trial: GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma

A new clinical trial is recruiting patients for Acid sphingomyelinase deficiency

New recruiting trial: 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)

A new clinical trial is recruiting patients for Acid sphingomyelinase deficiency

New trial: Diagnostic Creteria of Acid Sphingomyelinase Deficiency (ASMD)

Phase NA trial recruiting.

New trial: ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

Phase NA trial recruiting. Confirmatory Testing

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Acid sphingomyelinase deficiency

Are there clinical trials for Acid sphingomyelinase deficiency?

Yes — 3 recruiting clinical trials are currently listed for Acid sphingomyelinase deficiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Acid sphingomyelinase deficiency?

3 specialists and care centers treating Acid sphingomyelinase deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Acid sphingomyelinase deficiency?

1 patient support program are currently tracked on UniteRare for Acid sphingomyelinase deficiency. See the treatments and support programs sections for copay assistance, eligibility, and contact details.