Mucopolysaccharidosis

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ORPHA:79213
Who is this for?
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1FDA treatments16Active trials21Specialists8Treatment centers3Financial 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

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

Orphanet ↗NORD ↗

FDA & Trial Timeline

10 events
Mar 2026Physical Activity Intervention for MPS

Brunel University

TrialNOT YET RECRUITING
Aug 2025Nutritional Assessment in Patient of Mucopolysaccharide "

Assiut University — NA

TrialNOT YET RECRUITING
Sep 2023An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007

Denali Therapeutics Inc. — PHASE2, PHASE3

TrialENROLLING BY INVITATION
Jul 2023Long Term Follow-Up for RGX-111

REGENXBIO Inc.

TrialENROLLING BY INVITATION
Apr 2023ISP-001: Sleeping Beauty Transposon-Engineered B Cells for MPS I

Immusoft of CA, Inc. — PHASE1

TrialRECRUITING
Feb 2023An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in MPS II (Hunter Syndrome) Subjects

JCR Pharmaceuticals Co., Ltd. — PHASE3

TrialENROLLING BY INVITATION
Sep 2022A Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients with MPS Ⅱ

GC Biopharma Corp — PHASE1

TrialACTIVE NOT RECRUITING
Jul 2022A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)

Denali Therapeutics Inc. — PHASE2, PHASE3

TrialRECRUITING
May 2022Registry of Patients Diagnosed With Lysosomal Storage Diseases

University of California, San Francisco — NA

TrialRECRUITING
Feb 2022A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)

JCR Pharmaceuticals Co., Ltd. — PHASE3

TrialACTIVE NOT RECRUITING

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

Treatments

1 available

MEPSEVII

vestronidase alfa· Ultragenyx

* Patient Copay Amount: Not Publicly Available * Maximum Annual Benefit Limit: Not Publicly Available * Core Eligibility Restrictions: Not Publicly Available * RxBIN, PCN, and Group numbers: Not Publi

Clinical Trials

16 recruitingView all trials with filters →
Phase 33 trials
An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in MPS II (Hunter Syndrome) Subjects
Phase 3
Enrolling by Invitation
· Sites: Oakland, California; Philadelphia, Pennsylvania +8 more
Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIA
Phase 3
Enrolling by Invitation
PI: Medical Director (Ultragenyx Pharmaceutical Inc) · Sites: Columbus, Ohio; North Adelaide, South Australia +2 more
A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)
Phase 3
Active
· Sites: Phoenix, Arizona; Oakland, California +22 more
Phase 22 trials
An Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type II
Phase 2
Active
· Sites: Fukui; Fukuoka +18 more
An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II
Phase 2
Active
· Sites: Porto Alegre; São Paulo
Phase 12 trials
ISP-001: Sleeping Beauty Transposon-Engineered B Cells for MPS I
Phase 1
Actively Recruiting
PI: Immusoft Clinical Development (Immusoft of CA, Inc.) · Sites: Oakland, California; Minneapolis, Minnesota · Age: 1099 yrs
A Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients with MPS Ⅱ
Phase 1
Active
· Sites: Pusan; Seoul +1 more · Age: 018 yrs
N/A1 trial
Registry of Patients Diagnosed With Lysosomal Storage Diseases
N/A
Actively Recruiting
PI: Tippi C MacKenzie, MD (University of California, San Francisco) · Sites: San Francisco, California · Age: 064 yrs
Other3 trials
Mucopolysaccharidosis VII Disease Monitoring Program
Actively Recruiting
PI: Medical Director (Ultragenyx Pharmaceuticals Inc.) · Sites: Orange, California; Washington D.C., District of Columbia +12 more
Long Term Follow-Up for RGX-111
Enrolling by Invitation
· Sites: Orange, California; Porto Alegre, Rio Grande do Sul
Non-invasive Functional Assessment and Pathogenesis of Morquio A
Actively Recruiting
PI: Shunji Tomatsu, MD PhD (Nemours Children's Care) · Sites: Wilmington, Delaware

Specialists

21 foundView all specialists →
PM
Paul Orchard, MD
MINNEAPOLIS, MN
Specialist
PI on 15 active trials
TM
Tippi C MacKenzie, MD
San Francisco, California
Specialist

Rare Disease Specialist

PI on 2 active trials
MM
Mitchell S Cairo, MD
HAWTHORNE, NY
Specialist
PI on 12 active trials
JM
Joanne Kurtzberg, MD
DURHAM, NC
Specialist
PI on 11 active trials
PM
Paul Harmatz, MD
OAKLAND, CA
Specialist
PI on 4 active trials
PP
Patrice Rioux, MD PhD
Specialist
PI on 3 active trials
MP
Michael Potegal, PhD
MINNEAPOLIS, MN
Specialist
PI on 1 active trial
CM
Carlos R Ferreira Lopez, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 2 active trials
SM
Suhag Parikh, MD
CHICAGO, IL
Specialist
PI on 1 active trial
CP
Chester B. Whitley, M.D., Ph.D.
LAS VEGAS, NV
Specialist
PI on 1 active trial
AS
Ashley Schneider
Specialist
PI on 1 active trial
AD
Arndt Rolfs, Prof. Dr.
Specialist
PI on 4 active trials
NM
Nancy Mendelsohn, MD
SAINT PAUL, MN
Specialist
PI on 1 active trial
TM
Tetyana Pelipyagina, MD'
Specialist
PI on 1 active trial
HM
Harihar V Hegde, MD
Specialist
PI on 1 active trial
YY
Yavuz Yakut
Specialist
PI on 1 active trial
SL
Sam Lu
Specialist
PI on 1 active trial

Treatment Centers

8 centers
⚗️ Trial Site

Children's Hospital of Philadelphia

📍 Philadelphia, Pennsylvania

👤 Study Director

👤 Richard Neibeger, MD

⚗️ Trial Site

UCSF Benioff Children's Hospital Oakland

📍 Oakland, California

👤 Neeta Thakur, MD, MPH

⚗️ Trial Site

University of California San Francisco

📍 San Francisco, California

⚗️ Trial Site

Hôpital Femme Mère Enfant

📍 Bron

👤 Justine BACCHETTA, MD PhD

🔬 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

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

Travel Grants

3 grants

The Assistance Fund (TAF) Financial Assistance Program

Applicants must be U.S. citizens or permanent residents diagnosed with MPS II (Hunter Syndrome) and prescribed an FDA-approved treatment with existing insurance coverage. Financial eligibility is required based on household income and size, though specific thresholds are not listed.

Apply ↗

Accessia Health: MPS-1 - Public Insurance

Accessia Health

Apply ↗

Accessia Health: MPS-1 - Public Insurance: Waitlist

Accessia Health

Apply ↗

Community

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Latest news about Mucopolysaccharidosis

Disease timeline:

New recruiting trial: A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II

A new clinical trial is recruiting patients for Mucopolysaccharidosis

New recruiting trial: Natural History Study of Participants With Sanfilippo Syndrome Type IIIC

A new clinical trial is recruiting patients for Mucopolysaccharidosis

New recruiting 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

A new clinical trial is recruiting patients for Mucopolysaccharidosis

New recruiting trial: Study of Skeletal Disorders

A new clinical trial is recruiting patients for Mucopolysaccharidosis

New recruiting trial: Decoding the Genetic Landscape of Skeletal Diseases

A new clinical trial is recruiting patients for Mucopolysaccharidosis

New trial: Registry of Patients Diagnosed With Lysosomal Storage Diseases

Phase NA trial recruiting. There is no intervention

New trial: An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in MPS II (Hunter Syndrom

Phase PHASE3 trial recruiting. JR-141

New trial: An Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type II

Phase PHASE2 trial recruiting. JR-141

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 Mucopolysaccharidosis

What is Mucopolysaccharidosis?

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

Are there clinical trials for Mucopolysaccharidosis?

Yes — 16 recruiting clinical trials are currently listed for Mucopolysaccharidosis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Mucopolysaccharidosis?

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

What treatment and support options exist for Mucopolysaccharidosis?

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