Fetal Gaucher disease

Last reviewed

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ORPHA:85212OMIM:608013E75.2
Who is this for?
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3FDA treatments1Specialists8Treatment 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:

Clinical phenotype terms— hover any for plain English:

Conjugated hyperbilirubinemiaHP:0002908Decreased beta-glucocerebrosidase levelHP:0003656Elevated circulating aspartate aminotransferase concentrationHP:0031956Nonimmune hydrops fetalisHP:0001790
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

2 events
Aug 2014

Cerdelga: FDA approved

Long-term treatment of adult patients with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test.

FDAcompleted
Apr 1991

Ceredase: FDA approved

Long-term enzyme replacement therapy for children, adolescents and adult patients with a confirmed diagnosis of Type I Gaucher disease who exhibit signs and symptoms that are severe enough to result in one or more of the following conditions: a) moderate-to-severe anemia; b) thrombocytopenia with bleeding tendency; c) bone disease; d) significant hepatomegaly or splenomegaly.

FDAcompleted

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

Treatments

3 available

Azithromycin

AZITHROMYCIN· Preferred Pharmaceuticals Inc.

Genital ulcer disease in men

Cerdelga

ELIGLUSTAT· Genzyme CorporationOrphan Drug
Long-term treatment of adult patients with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared

Long-term treatment of adult patients with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test.

Ceredase

Alglucerase injection· Genzyme CorporationOrphan Drug
Long-term enzyme replacement therapy for children, adolescents and adult patients with a confirmed diagnosis of Type I Gaucher disease who exhibit signs and symptoms that are severe enough to result i

Long-term enzyme replacement therapy for children, adolescents and adult patients with a confirmed diagnosis of Type I Gaucher disease who exhibit signs and symptoms that are severe enough to result in one or more of the following conditions: a) moderate-to-severe anemia; b) thrombocytopenia with bleeding tendency; c) bone disease; d) significant hepatomegaly or splenomegaly.

No actively recruiting trials found for Fetal Gaucher disease at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Fetal Gaucher disease community →

Specialists

1 foundView all specialists →
TM
Tippi MacKenzie, MD
San Francisco, California
Specialist

Rare Disease Specialist

PI on 2 active trials

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 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

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Financial Resources

1 resources
Cerdelga(ELIGLUSTAT)Genzyme Corporation

Travel Grants

No travel grants are currently matched to Fetal Gaucher disease.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Fetal Gaucher diseaseForum →

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Latest news about Fetal Gaucher disease

No recent news articles for Fetal Gaucher disease.

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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 Fetal Gaucher disease

Which specialists treat Fetal Gaucher disease?

1 specialists and care centers treating Fetal Gaucher disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Fetal Gaucher disease?

1 patient support program are currently tracked on UniteRare for Fetal Gaucher disease. See the treatments and support programs sections for copay assistance, eligibility, and contact details.