Pompe disease

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Who is this for?
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3FDA treatments1Active trials17Specialists8Treatment centers11Financial 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

Pompe disease is treated with 1 medication in our database, including Nexviazyme. 1 of these has manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Sanofi. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Pompe disease treatment below.

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

NORD ↗

FDA & Trial Timeline

1 event
Oct 2022Avalglucosidase Alfa Pregnancy Study

Sanofi — NA

TrialRECRUITING

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

Treatments

3 available

Lumizyme

ALGLUCOSIDASE ALFA· Genzyme Corporation■ Boxed WarningOrphan Drug
1 INDICATIONS AND USAGE LUMIZYME ® is a hydrolytic lysosomal glycogen-specific enzyme indicated for patients with Pompe disease (acid α-glucosidase [GAA] deficiency). LUMIZYME ® is a hydrolytic lysoso

1 INDICATIONS AND USAGE LUMIZYME ® is a hydrolytic lysosomal glycogen-specific enzyme indicated for patients with Pompe disease (acid α-glucosidase [GAA] deficiency). LUMIZYME ® is a hydrolytic lysosomal glycogen-specific enzyme indicated for patients with Pompe disease (GAA deficiency). ( 1 )

Nexviazyme

AVALGLUCOSIDASE ALFA-NGPT· Genzyme Corporation■ Boxed WarningOrphan Drug
1 INDICATIONS AND USAGE NEXVIAZYME is indicated for the treatment of patients 1 year of age and older with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency). NEXVIAZYME is a

1 INDICATIONS AND USAGE NEXVIAZYME is indicated for the treatment of patients 1 year of age and older with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency). NEXVIAZYME is a hydrolytic lysosomal glycogen-specific enzyme indicated for the treatment of patients 1 year of age and older with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency). ( 1 )

POMBILITI ATGA

CIPAGLUCOSIDASE ALFA-ATGA· AMICUS THERAPEUTICS US, LLC■ Boxed WarningOrphan Drug
1 INDICATIONS AND USAGE POMBILITI is indicated, in combination with Opfolda, for the treatment of adult patients with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency) weigh

1 INDICATIONS AND USAGE POMBILITI is indicated, in combination with Opfolda, for the treatment of adult patients with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency) weighing ≥40 kg and who are not improving on their current enzyme replacement therapy (ERT). POMBILITI is a hydrolytic lysosomal glycogen-specific enzyme indicated, in combination with Opfolda, an enzyme stabilizer, for the treatment of adult patients with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency) weighing ≥40 kg and who are not improving on their current enzyme replacement therapy (ERT). ( 1 )

Clinical Trials

1 recruitingView all trials with filters →
N/A1 trial
Avalglucosidase Alfa Pregnancy Study
N/A
Actively Recruiting
PI: Clinical Sciences & Operations (Sanofi) · Sites: Bridgewater, New Jersey

Specialists

17 foundView all specialists →
PL
Pascal Laforêt
Specialist
4 Pompe disease publications
NB
Nadine A M E van der Beek
Specialist
3 Pompe disease publications
GP
Giancarlo Parenti
Specialist
3 Pompe disease publications
KB
Kenneth I Berger
Specialist
3 Pompe disease publications
AP
Ans T van der Ploeg
Specialist
8 Pompe disease publications
PK
Priya S Kishnani
DURHAM, NC
Specialist
7 Pompe disease publications
BS
Benedikt Schoser
Specialist
6 Pompe disease publications
AT
Antonio Toscano
Specialist
5 Pompe disease publications
JH
Johanna M P van den Hout
Specialist
4 Pompe disease publications
MR
Mark Roberts
Specialist
4 Pompe disease publications
VS
Volker Straub
Specialist
4 Pompe disease publications
KH
Kristina An Haack
Specialist
4 Pompe disease publications
TM
Tippi C MacKenzie, MD
San Francisco, California
Specialist

Rare Disease Specialist

PI on 2 active trials
NT
Nathan Thibault
CAMBRIDGE, MA
Specialist
3 Pompe disease publications
TM
Tahseen Mozaffar
ORANGE, CA
Specialist
4 Pompe disease publications
AH
Andreas Hahn
Specialist
4 Pompe disease publications

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

5 resources
Lumizyme(ALGLUCOSIDASE ALFA)Genzyme Corporation
Nexviazyme(AVALGLUCOSIDASE ALFA-NGPT)Genzyme Corporation

NORD Patient Assistance — Pompe disease

NORD Patient Assistance

Pompe disease

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

The Assistance Fund — Pompe disease

The Assistance Fund

Pompe disease

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

HealthWell Foundation — Pompe disease

HealthWell Foundation

Pompe disease

Verified 3d ago
Foundation Grant
foundation grant
Accepting applications

6 travel grants are also available for Pompe disease patients — see Travel Grants below ↓

Travel Grants

6 grants

Pompe disease medication copay assistance - PAN Foundation

PAN Foundation

Applicants must be receiving treatment for Pompe disease in the United States and have health insurance that covers their qualifying medication. Eligible patients must also have a household income at or below 500% of the Federal Poverty Level.

Apply ↗Up to $13,900

PAN: Pompe Disease Financial Assistance

Apply ↗

PAN: Pompe Disease (Premium Assistance)

Patients must have a diagnosis of Pompe Disease and reside in the United States or Puerto Rico. Eligibility requires enrollment in Medicare, Medicaid, or commercial insurance for this needs-based premium assistance fund.

Apply ↗Up to $4,800

The Assistance Fund: Pompe Disease

Apply ↗

Pompe Disease Financial Assistance Program

The Assistance Fund

Apply ↗

Grant's Giants financial assistance

Grant’s Giants Pompe Awareness Nonprofit

Apply ↗

Community

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Latest news about Pompe disease

1 articles
Clinical trialCLINICALTRIALSMar 26, 2026
Trial Now Recruiting: Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD) (NCT07123155)
Researchers are testing a new drug called S-606001 to see if it can help adults with late-onset Pompe disease when added to their current enzyme replacement the
See all news about Pompe disease

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 Pompe disease

What is Pompe disease?

Pompe disease is treated with 1 medication in our database, including Nexviazyme. 1 of these has manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Sanofi. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Pompe disease treatment below.

How is Pompe disease inherited?

Pompe disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Are there clinical trials for Pompe disease?

Yes — 1 recruiting clinical trial is currently listed for Pompe disease on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Pompe disease?

17 specialists and care centers treating Pompe 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 Pompe disease?

1 FDA-approved treatment and 6 patient support programs are currently tracked on UniteRare for Pompe disease. See the treatments and support programs sections for copay assistance, eligibility, and contact details.