Mucolipidosis Type IVNCT05782387
Mucolipidosis Type IV Natural History Study
An observational study of Mucolipidosis Type IV, run by Massachusetts General Hospital at 1 site in United States.
Trial summary
The primary objectives of the study are: to describe the characteristics of the current international MLIV population; to define the median age at which patients with MLIV achieve or lose developmental milestones; to define the natural history of MLIV for the Gross Motor Function Classification System (GMFCS) (Morris… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Mucolipidosis Type IV
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 15 Mar 2023to Sep 2028
- 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 Any age
- All sexes
- Child, Adult, Older adult
Study population: We expect to enroll 50 MLIV patients who are currently in communication with the ML4 Foundation. This population is comprised of male and female patients, ages 2-45. Many patients are of Ashkenazi Jewish background. These participant candidates are located nationally and internationally.
Who may be able to join
- Patient of any age or gender with a diagnosis of MLIV confirmed through 1) genetic testing and identification of homozygous MCOLN1 allele variants known to be pathogenic, or 2) clinical characteristics consistent with MLIV and one of the following: a) electron microscopy of fibroblasts or other patient cells demonstrating abnormal lysosomal accumulations consistent with MLIV, or b) elevated gastrin levels (pathognomonic for MLIV in the setting of a neurodevelopmental disorder). Potential participants or guardians must be able to provide informed consent (patient assent is not applicable to the MLIV population).
Who cannot join
- Patients will be excluded from data collection if they do not meet any of the diagnostic criteria outlined above or they and their guardians are unable to provide informed consent. It may be possible that an initial review of collected medical records by MGH research staff after consent and enrollment suggests a misdiagnosis of MLIV. In this case the subject will be excluded from the study. Research staff will contact the patient/guardians by email and schedule a telephone or teleconference meeting to discuss the decision. All medical records will be immediately destroyed upon exclusion of a participant.
Trial locations and contacts
1 site in 1 country.
United States1 site
Massachusetts General Hospital
Boston, Massachusetts, 02144
About this study
Official title: A New Retrospective Natural History Study of Mucolipidosis Type IV
The primary objectives of the study are: to describe the characteristics of the current international MLIV population; to define the median age at which patients with MLIV achieve or lose developmental milestones; to define the natural history of MLIV for the Gross Motor Function Classification System (GMFCS) (Morris and Bartlett, 2004) and the MLIV specific scale and test the validity of retrospectively applying these scales to medical record data; to define the rate of visual decline in patients with MLIV.
Read the detailed description
This study is a retrospective natural history study of MLIV. It involves the collection of all participants medical records prior to the date of consent.
First, the study will provide an approximate description of the international MLIV population, which could inform the feasibility and design of interventional trials. Second, the results will be used to create an MLIV specific developmental timeline (akin to the Denver Developmental Screen (Frankenburg and Dodds, 1967)) against which a patient's developmental trajectory pre- and post-treatment can be compared. Third, the study will assess the reliability and validity of the GMFCS and our MLIV specific scales when applied retrospectively. These scales could provide longitudinal, quantitative historical data on the level of function and disability in MLIV patients. The scales could be used as endpoints in future trials or provide historical context for interpretation of treatment effects. Fourth, the study will define the rate of visual decline in patients, which could be halted by gene therapy targeted to the retina. Fifth, the study will analyze the natural history of MLIV associated EEG and brain MRI abnormalities, aiming to establish biomarkers of disease progression. And finally, the study will provide baseline data on clinical measures used to monitor for gene therapy treatment side effects (inflammatory markers, liver enzyme levels, etc.) across the life span of patient with MLIV.
- Conditions
- Mucolipidosis Type IV
- Medical subject headings
- Mucolipidoses
What is being measured
The primary outcome is the main question the study is designed to answer.
ML4 Characteristics
Describe the characteristics of the current international MLIV population.
Measured: Three years
Developmental Milestones
Define the age (median and range) at which patients with MLIV achieve or lose developmental milestones.
Measured: Three years
Gross Motor Function
Define the natural history of MLIV for the Gross Motor Function Classification System (GMFCS) (Morris and Bartlett, 2004) and our MLIV specific scale and test the validity of retrospectively applying these scales to medical record data.
Measured: Three years
Visual Decline
Define the rate of visual decline in patients with MLIV.
Measured: Three years
Secondary outcomes (3)
Iron Deficiency and Achlorhydria
Define the natural history of iron deficiency anemia and achlorhydria in MLIV.
Measured: Three years
Brain Imaging
Delineate the natural history of brain imaging, including MRI, and electrophysiological features in MLIV.
Measured: Three years
Clinical Labs
Define baseline values for clinical studies or labs that may be used to monitor gene therapy side effects in future clinical trials.
Measured: Three years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Mar 2023
- Study start15 Mar 2023
- Primary completionSep 2028 (estimated)
- Study completionSep 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucolipidosis Type IVStudies of the same condition, open and under way.
- More trials run by Massachusetts General HospitalThe 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
- Retrospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Patricia Musolino, MD PhD, Massachusetts General Hospital
- Investigators
- Patricia Musolino, MD, PHD, Principal investigator, Neurologist
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05782387
- Sponsor's protocol ID
- 2021P003131
- Status last verified
- Apr 2026
- First submitted
- 8 Feb 2023
- Last updated
- 23 Apr 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A New Retrospective Natural History Study of Mucolipidosis Type IV
- ClinicalTrials.gov ID
- NCT05782387
- Acronym / sponsor ID
- 2021P003131
- Conditions
- Mucolipidosis Type IV
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Study start
- 15 Mar 2023 (actual)
- Primary completion
- Sep 2028 (estimated)
- Study completion
- Sep 2028 (estimated)
- First posted
- 23 Mar 2023 (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.
The primary objectives of the study are: to describe the characteristics of the current international MLIV population; to define the median age at which patients with MLIV achieve or lose developmental milestones; to define the natural history of MLIV for the Gross Motor Function Classification System (GMFCS) (Morris and Bartlett, 2004) and the MLIV specific scale and test the validity of retrospectively applying these scales to medical record data; to define the rate of visual decline in patients with MLIV.
Detailed description
This study is a retrospective natural history study of MLIV. It involves the collection of all participants medical records prior to the date of consent.
First, the study will provide an approximate description of the international MLIV population, which could inform the feasibility and design of interventional trials. Second, the results will be used to create an MLIV specific developmental timeline (akin to the Denver Developmental Screen (Frankenburg and Dodds, 1967)) against which a patient's developmental trajectory pre- and post-treatment can be compared. Third, the study will assess the reliability and validity of the GMFCS and our MLIV specific scales when applied retrospectively. These scales could provide longitudinal, quantitative historical data on the level of function and disability in MLIV patients. The scales could be used as endpoints in future trials or provide historical context for interpretation of treatment effects. Fourth, the study will define the rate of visual decline in patients, which could be halted by gene therapy targeted to the retina. Fifth, the study will analyze the natural history of MLIV associated EEG and brain MRI abnormalities, aiming to establish biomarkers of disease progression. And finally, the study will provide baseline data on clinical measures used to monitor for gene therapy treatment side effects (inflammatory markers, liver enzyme levels, etc.) across the life span of patient with MLIV.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- We expect to enroll 50 MLIV patients who are currently in communication with the ML4 Foundation. This population is comprised of male and female patients, ages 2-45. Many patients are of Ashkenazi Jewish background. These participant candidates are located nationally and internationally.
Key inclusion criteria (1 listed)
- Patient of any age or gender with a diagnosis of MLIV confirmed through 1) genetic testing and identification of homozygous MCOLN1 allele variants known to be pathogenic, or 2) clinical characteristics consistent with MLIV and one of the following: a) electron microscopy of fibroblasts or other patient cells demonstrating abnormal lysosomal accumulations consistent with MLIV, or b) elevated gastrin levels (pathognomonic for MLIV in the setting of a neurodevelopmental disorder). Potential participants or guardians must be able to provide informed consent (patient assent is not applicable to the MLIV population).
Key exclusion criteria (1 listed)
- Patients will be excluded from data collection if they do not meet any of the diagnostic criteria outlined above or they and their guardians are unable to provide informed consent. It may be possible that an initial review of collected medical records by MGH research staff after consent and enrollment suggests a misdiagnosis of MLIV. In this case the subject will be excluded from the study. Research staff will contact the patient/guardians by email and schedule a telephone or teleconference meeting to discuss the decision. All medical records will be immediately destroyed upon exclusion of a participant.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
ML4 Characteristics
Time frame: Three years
Describe the characteristics of the current international MLIV population.
Developmental Milestones
Time frame: Three years
Define the age (median and range) at which patients with MLIV achieve or lose developmental milestones.
Gross Motor Function
Time frame: Three years
Define the natural history of MLIV for the Gross Motor Function Classification System (GMFCS) (Morris and Bartlett, 2004) and our MLIV specific scale and test the validity of retrospectively applying these scales to medical record data.
Visual Decline
Time frame: Three years
Define the rate of visual decline in patients with MLIV.
3 secondary outcomes
Iron Deficiency and Achlorhydria
Time frame: Three years
Brain Imaging
Time frame: Three years
Clinical Labs
Time frame: Three years
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 23 Apr 2026.
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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. This study is not recruiting at the moment.
Patricia Musolino, MD, PHD principal investigator
Neurologist
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 Mucolipidosis Type IV, run by Massachusetts General Hospital 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 1 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: under way, not looking for participants, as of the sponsor's last update on 23 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
ML4 Characteristics (time frame: Three 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 23 Apr 2026; AzTrials last refreshed its copy on 3 Nov 2026.