Mucopolysaccharidosis ILSD RegistryNCT05619900
Registry of Patients Diagnosed With Lysosomal Storage Diseases
An observational study of Mucopolysaccharidosis I and Mucopolysaccharidosis II, run by University of California, San Francisco at 1 site in United States.
Trial summary
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs. Read more about this study
- Who is it for?
- Ages Up to 64 years
- Conditions the study is for
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A
- How many people
- 250 participants
- Where
- 1 siteUnited States
- Study dates
- 31 May 2022to 31 May 2050
- How long will I take part?
- 15 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 64 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Prenatal or postnatal patients diagnosed with a Lysosomal Storage Disease.
Who may be able to join
- Patients aged 0-64 with a diagnosis of a lysosomal storage disease
- Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease
Who cannot join
- There are no current exclusion criteria
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of California San Francisco
San Francisco, California, 94143
Billie Lianoglou, MS, 415-476-2461, billie.lianoglou@ucsf.edu
Emma Canepa, MS, CCRP, 415-476-7255, Emma.Canepa@ucsf.edu
About this study
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.
Read the detailed description
The need for methods to track patient outcomes, clinical management, medical decision making, and quality of care are all part of current national mandates in patient safety and quality of care delivery.
The aim of this registry is to prospectively and retrospectively collect data on patients who are diagnosed with Lysosomal Storage Disease and other LSD mutations. Data collected will be used to:
- Identify patient outcomes of therapies.
- Improve clinical management of patients with LSDs.
- Improve medical decision making.
- Improve quality of care.
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset
- Being tested
- There is no intervention
- Keywords
- Lysosomal Storage Disease, LSDs, Inborn Error of Metabolism, Hurler Syndrome, Sly Syndrome, Hunter Syndrome, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IVa, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset, Neuronopathic Gaucher Disease, Wolman Disease, MPS, Mucopolysaccharidosis
- Medical subject headings
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Gaucher Disease, Wolman Disease, Lysosomal Storage Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
There is no interventionOther
This is an observational study. There is no intervention. The purpose of the project is to create a database of patients diagnosed either prenatally or after birth with a lysosomal storage disease. The database will be utilized to assess patient outcomes, build on existing clinical management, improve medical decision making, and improve quality of care.
| Study group | Role | What they receive |
|---|---|---|
| Mucopolysaccharidosis I | Prenatally or postnatally diagnosed individuals Receives: Other: There is no intervention | |
| Mucopolysaccharidosis II | Prenatally or postnatally diagnosed individuals Receives: Other: There is no intervention | |
| Mucopolysaccharidosis IV A | Prenatally or postnatally diagnosed individuals Receives: Other: There is no intervention | |
| Mucopolysaccharidosis VI | Prenatally or postnatally diagnosed individuals Receives: Other: There is no intervention | |
| Mucopolysaccharidosis VII | Prenatally or postnatally diagnosed individuals Receives: Other: There is no intervention | |
| Infantile-Onset Pompe Disease | Prenatally or postnatally diagnosed individuals Receives: Other: There is no intervention | |
| Neuronopathic Gaucher | Prenatally or postnatally diagnosed individuals Receives: Other: There is no intervention | |
| Wolman Disease | Prenatally or postnatally diagnosed individuals Receives: Other: There is no intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients with and types of prenatal features of Lysosomal Storage Diseases
Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO.
Measured: 15 years
Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.
Laboratory analysis of urine for GAG levels.
Measured: 15 years
Number of participants that show measured levels of antibodies against the enzyme.
Laboratory analysis of blood to measure antibody levels.
Measured: 15 years
Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.
echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function.
Measured: 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Nov 2022
- Study start31 May 2022
- Primary completion31 May 2050 (estimated)
- Study completion31 May 2050 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucopolysaccharidosis IStudies of the same condition, open and under way.
- More trials run by University of California, San FranciscoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 250 participants (estimated)
- Target duration
- 15 Years
Sponsor and investigators
- Lead sponsor
- University of California, San Francisco
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Tippi C MacKenzie, MD, Principal investigator, University of California, San Francisco
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05619900
- Sponsor's protocol ID
- 21-34933
- Acronym
- LSD Registry
- Status last verified
- Apr 2026
- First submitted
- 9 Nov 2022
- Last updated
- 8 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Registry of Patients Diagnosed With Lysosomal Storage Diseases
- ClinicalTrials.gov ID
- NCT05619900
- Acronym / sponsor ID
- LSD Registry / 21-34933
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Pompe Disease Infantile-Onset
- Keywords
- Lysosomal Storage Disease, LSDs, Inborn Error of Metabolism, Hurler Syndrome, Sly Syndrome, Hunter Syndrome, Mucopolysaccharidosis I, Mucopolysaccharidosis II
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 250 participants (estimated)
- Lead sponsor
- University of California, San FranciscoUniversity, hospital or other
- Study start
- 31 May 2022 (actual)
- Primary completion
- 31 May 2050 (estimated)
- Study completion
- 31 May 2050 (estimated)
- First posted
- 17 Nov 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.
Detailed description
The need for methods to track patient outcomes, clinical management, medical decision making, and quality of care are all part of current national mandates in patient safety and quality of care delivery.
The aim of this registry is to prospectively and retrospectively collect data on patients who are diagnosed with Lysosomal Storage Disease and other LSD mutations. Data collected will be used to:
- Identify patient outcomes of therapies.
- Improve clinical management of patients with LSDs.
- Improve medical decision making.
- Improve quality of care.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 15 Years
- Number of arms
- 8
| Arm | Type | Receives |
|---|---|---|
| Mucopolysaccharidosis I | – | Other: There is no interventionPrenatally or postnatally diagnosed individuals |
| Mucopolysaccharidosis II | – | Other: There is no interventionPrenatally or postnatally diagnosed individuals |
| Mucopolysaccharidosis IV A | – | Other: There is no interventionPrenatally or postnatally diagnosed individuals |
| Mucopolysaccharidosis VI | – | Other: There is no interventionPrenatally or postnatally diagnosed individuals |
| Mucopolysaccharidosis VII | – | Other: There is no interventionPrenatally or postnatally diagnosed individuals |
| Infantile-Onset Pompe Disease | – | Other: There is no interventionPrenatally or postnatally diagnosed individuals |
| Neuronopathic Gaucher | – | Other: There is no interventionPrenatally or postnatally diagnosed individuals |
| Wolman Disease | – | Other: There is no interventionPrenatally or postnatally diagnosed individuals |
Who may qualify
- Ages
- Up to 64 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Prenatal or postnatal patients diagnosed with a Lysosomal Storage Disease.
Key inclusion criteria (2 listed)
- Patients aged 0-64 with a diagnosis of a lysosomal storage disease
- Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease
Key exclusion criteria (1 listed)
- There are no current exclusion criteria
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| There is no interventionThis is an observational study. There is no intervention. The purpose of the project is to create a database of patients diagnosed either prenatally or after birth with a lysosomal storage disease. The database will be utilized to assess patient outcomes, build on existing clinical management, improve medical decision making, and improve quality of care. | Other | Infantile-Onset Pompe Disease, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, Neuronopathic Gaucher, Wolman Disease |
Primary outcome
Number of patients with and types of prenatal features of Lysosomal Storage Diseases
Time frame: 15 years
Prenatal presentation of symptoms (e.g. hydrops) appearing on fetal imaging such as ultrasound and ECHO.
Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.
Time frame: 15 years
Laboratory analysis of urine for GAG levels.
Number of participants that show measured levels of antibodies against the enzyme.
Time frame: 15 years
Laboratory analysis of blood to measure antibody levels.
Number of participants that show functional cardiac, growth, mobility, and neurocognitive function.
Time frame: 15 years
echocardiogram, skeletal survey, neurocognitive assessments such as Bayley III to assess cardiac, growth, mobility and neurocognitive function.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Apr 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Tippi C MacKenzie, MD principal investigator
University of California, San Francisco
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mucopolysaccharidosis I and Mucopolysaccharidosis II, run by University of California, San Francisco at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 8 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Billie Lianoglou, MS (415-476-2461, billie.lianoglou@ucsf.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of patients with and types of prenatal features of Lysosomal Storage Diseases (time frame: 15 years). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Apr 2026; AzTrials last refreshed its copy on 26 Oct 2026.