Lysosomal disease

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ORPHA:68366
Who is this for?
Show terms as
1Active trials29Specialists8Treatment 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

Orphanet ↗NORD ↗

FDA & Trial Timeline

3 events
Dec 2025A Study of Home vs Hospital Treatment in People With Fabry, Gaucher or Hunter Conditions in Mexico

Takeda

TrialACTIVE NOT RECRUITING
Aug 2024Harnessing Macrophage Lysosomal Lipid Metabolism in Obesity

Bettina Mittendorfer — NA

TrialRECRUITING
Mar 2021A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry

University Hospital, Rouen — NA

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Lysosomal disease.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Other1 trial
A Study of Home vs Hospital Treatment in People With Fabry, Gaucher or Hunter Conditions in Mexico
Active
PI: Study Director (Takeda) · Sites: Mexico City

Specialists

Showing 25 of 29View all specialists →
JX
Jian Xiong
BROOKLYN, NY
Specialist
2 Lysosomal disease publications
PK
P Kishnani
DURHAM, NC
Specialist
1 Lysosomal disease publication
HA
Hisham N Alsohybe
Specialist
2 Lysosomal disease publications
IP
Isabelle V Peña
Specialist
2 Lysosomal disease publications
JS
Judith A Simcox
Specialist
2 Lysosomal disease publications
SW
Steven U Walkley
Specialist
1 Lysosomal disease publication
PM
P K Mistry
Specialist
1 Lysosomal disease publication
TM
Tippi C MacKenzie, MD
San Francisco, California
Specialist

Rare Disease Specialist

PI on 2 active trials
WM
William A Gahl, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 12 active trials
FM
Forbes D Porter, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 14 active trials
PM
Paul Harmatz, MD
OAKLAND, CA
Specialist
PI on 4 active trials
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
HP
Huma Arshad Cheema, Prof.
Lahore, NY
Specialist

Rare Disease Specialist

PI on 1 active trial
LP
Leandro Slipczuk, MD, PhD
Specialist
PI on 1 active trial
CP
Can Ficicioglu, MD, PhD
PHILADELPHIA, PA
Specialist
PI on 2 active trials
VB
Vincent A Blomen
Specialist
2 Lysosomal disease publications
MR
Matthijs Raaben
Specialist
2 Lysosomal disease publications
SN
Sebastian M B Nijman
Specialist
2 Lysosomal disease publications
GH
Guido Hartmann
Specialist
2 Lysosomal disease publications
TB
Thijn R Brummelkamp
Specialist
2 Lysosomal disease publications
AJ
Arthur Ph de Jong
Specialist
1 Lysosomal disease publication
AJ
Arthur P H de Jong
Specialist
1 Lysosomal disease publication

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 Lysosomal disease.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Lysosomal disease

Disease timeline:

New recruiting trial: Harnessing Macrophage Lysosomal Lipid Metabolism in Obesity

A new clinical trial is recruiting patients for Lysosomal disease

New recruiting trial: A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry

A new clinical trial is recruiting patients for Lysosomal 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 Lysosomal disease

Are there clinical trials for Lysosomal disease?

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

Which specialists treat Lysosomal disease?

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