Sanfilippo Syndrome

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Who is this for?
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1FDA treatments2Active trials3Specialists8Treatment centers

Where are you in your journey?

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

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

Inheritance

Autosomal recessive

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

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

NORD ↗

FDA & Trial Timeline

3 events
Mar 2026Study of Cannabidiol in Sanfilippo Syndrome

Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center — PHASE2, PHASE3

TrialNOT YET RECRUITING
Dec 2024An Open Label Dose Escalation Study to Assess the Safety, Tolerability, and Pharmacologic Properties of High Dose Ambroxol Hydrochloride in Adult (≥ 18 Years of Age) Subjects With MPS III

Ozlem Goker-Alpan — PHASE2

TrialRECRUITING
Apr 2016Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH

Ultragenyx Pharmaceutical Inc — PHASE2, PHASE3

TrialRECRUITING

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

Treatments

1 available

NAGLAZYME

galsulfase· BioMarin

* Patient Copay Amount: As little as $0 * Maximum Annual Benefit Limit: Not Publicly Available * Core Eligibility Restrictions: Only for commercially insured patients; additional eligibility criteria

Clinical Trials

2 recruitingView all trials with filters →
Phase 21 trial
An Open Label Dose Escalation Study to Assess the Safety, Tolerability, and Pharmacologic Properties of High Dose Ambroxol Hydrochloride in Adult (≥ 18 Years of Age) Subjects With MPS III
Phase 2
Actively Recruiting
PI: Ozlem Goker-Alpan, MD (Lysosomal & Rare Disorders Research & Treatment Ce) · Sites: Fairfax, Virginia · Age: 1899 yrs

Specialists

3 foundView all specialists →
OM
Ozlem Goker-Alpan, MD
Fairfax, Virginia
Specialist

Rare Disease Specialist

PI on 9 active trials
NM
Nathalie Guffon, MD
Dallas, Texas
Specialist

Rare Disease Specialist

PI on 1 active trial
SC
SungYoon Cho
Specialist
PI on 1 active trial

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

Travel Grants

No travel grants are currently matched to Sanfilippo Syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Sanfilippo Syndrome

Disease timeline:

New recruiting trial: Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH

A new clinical trial is recruiting patients for Sanfilippo Syndrome

New trial: An Open Label Dose Escalation Study to Assess the Safety, Tolerability, and Pharmacologic Properties

Phase PHASE2 trial recruiting. Ambroxol Hydrochloride 30 mg tablet - 9 mg/kg/day

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 Sanfilippo Syndrome

What is Sanfilippo Syndrome?

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

How is Sanfilippo Syndrome inherited?

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

At what age does Sanfilippo Syndrome typically begin?

Typical onset of Sanfilippo Syndrome is childhood. Age of onset can vary across affected individuals.

Are there clinical trials for Sanfilippo Syndrome?

Yes — 2 recruiting clinical trials are currently listed for Sanfilippo Syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Sanfilippo Syndrome?

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

What treatment and support options exist for Sanfilippo Syndrome?

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