Mucolipidosis Type IVNCT01067742
The Natural History of Mucolipidosis Type IV
An observational study of Mucolipidosis Type IV, run by Baylor Research Institute at 1 site in United States.
Trial summary
The purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures. Read more about this study
- Who is it for?
- Ages 1 year to 64 years
- Conditions the study is for
- Mucolipidosis Type IV
- How many people
- 7 participants
- Where
- 1 siteUnited States
- Study dates
- 19 Feb 2009to 7 Jul 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
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 1 year to 64 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Subjects previously identified with Mucolipidosis Type IV
Who may be able to join
- Subjects must:
- Have a definitive diagnosis of MLIV based at least on a compatible history and significantly elevated blood gastrin levels
- Be able to travel to the Baylor Institute of Metabolic Disease in Dallas and spend 2-3 working days on site
- Be able to tolerate a general exam and neurological exam
- Be able to tolerate a modest amount of blood drawing, provide a urine specimen, and have a skin biopsy(if not previously done)
- Be able to tolerate the performance of necessary neuroimaging studies to include EEG and Head MRI
- Be able to tolerate a neuropsychological testing and rehabilitation evaluation
Who cannot join
- -
Trial locations and contacts
1 site in 1 country.
United States1 site
Baylor Institute of Metabolic Disease
Dallas, Texas, 75226
About this study
The purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures.
Read the detailed description
Mucolipidosis type IV (MLIV) is an autosomal recessive disorder typically characterized by severe psychomotor delay evident by the end of the first year of life and slowly progressive visual impairment during the first decade as a result of a combination of corneal clouding and retinal degeneration. By the end of the first decade of life, and always by their early teens, individuals with typical MLIV develop severe visual impairment as a result of retinal degeneration. MLIV is an under-diagnosed and unique lysosomal disorder in that it often is mistaken either for cerebral palsy or for a retinal dystrophy of unknown cause. In addition, it is caused by a defect in a cation channel rather than by a lysosomal hydrolase. This study represents the only prospective clinical study in this patient population. Now that an animal model has been created and novel therapies will likely be tested, it is particularly important to define the natural history of this disorder and identify potential clinical outcome measures.
- Conditions
- Mucolipidosis Type IV
- Keywords
- Mucolipidosis, retinal dystrophy, mucolipin-1,, lysosomal storage disease, gastrin, mental retardation,, dysmyelination, dysplastic corpus callosum,corneal clouding
- Medical subject headings
- Mucolipidoses, Retinal Dystrophies, Lysosomal Storage Diseases, Intellectual Disability, Demyelinating Diseases, Agenesis of Corpus Callosum, Corneal Opacity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Subjects with Mucolipidosis Type IV | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Neuropsychological testing
Measured: Annual by 5 years
Secondary outcomes (6)
Blood tests
Measured: Annual by 5 years
Urine tests
Measured: Annual by 5 years
MRI of the brain
Measured: Annual by 5 years
Rehabilitation evaluation
Measured: Annual by 5 years
Nutritional status evaluation
Measured: Annual by 5 years
Skin biopsy
Measured: 1 year only
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Feb 2010 (estimated)
- Study start19 Feb 2009
- Primary completion7 Jul 2021
- Study completion7 Jul 2021
Why it stopped: PI left site
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Mucolipidosis Type IVStudies of the same condition, open and under way.
- More trials run by Baylor Research InstituteThe 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
- Prospective
- Enrolment
- 7 participants (actual)
Sponsor and investigators
- Lead sponsor
- Baylor Research Institute
- Sponsor type
- University, hospital or other
- Collaborators
- Rare Diseases Clinical Research Network, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01067742
- Sponsor's protocol ID
- 008-295
- Other IDs
- U54NS065768
- Status last verified
- Jan 2026
- First submitted
- 10 Feb 2010
- Last updated
- 26 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
Cougnoux A, Drummond RA, Fellmeth M, Navid F, Collar AL, Iben J, Kulkarni AB, Pickel J, Schiffmann R, Wassif CA, Cawley NX, Lionakis MS, Porter FD. Unique molecular signature in mucolipidosis type IV microglia. J Neuroinflammation. 2019 Dec 28;16(1):276. doi: 10.1186/s12974-019-1672-4.
PubMed 31883529
Study at a glance
From the registry record, last updated by the sponsor on 26 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Natural History of Mucolipidosis Type IV
- ClinicalTrials.gov ID
- NCT01067742
- Acronym / sponsor ID
- 008-295
- Conditions
- Mucolipidosis Type IV
- Keywords
- Mucolipidosis, retinal dystrophy, mucolipin-1,, lysosomal storage disease, gastrin, mental retardation,, dysmyelination, dysplastic corpus callosum,corneal clouding
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: PI left site
- Enrolment
- 7 participants (actual)
- Lead sponsor
- Baylor Research InstituteUniversity, hospital or other
- Collaborators
- Rare Diseases Clinical Research Network, National Center for Advancing Translational Sciences (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Study start
- 19 Feb 2009 (actual)
- Primary completion
- 7 Jul 2021 (actual)
- Study completion
- 7 Jul 2021 (actual)
- First posted
- 12 Feb 2010 (estimated)
- 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 purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures.
Detailed description
Mucolipidosis type IV (MLIV) is an autosomal recessive disorder typically characterized by severe psychomotor delay evident by the end of the first year of life and slowly progressive visual impairment during the first decade as a result of a combination of corneal clouding and retinal degeneration. By the end of the first decade of life, and always by their early teens, individuals with typical MLIV develop severe visual impairment as a result of retinal degeneration. MLIV is an under-diagnosed and unique lysosomal disorder in that it often is mistaken either for cerebral palsy or for a retinal dystrophy of unknown cause. In addition, it is caused by a defect in a cation channel rather than by a lysosomal hydrolase. This study represents the only prospective clinical study in this patient population. Now that an animal model has been created and novel therapies will likely be tested, it is particularly important to define the natural history of this disorder and identify potential clinical outcome measures.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Subjects with Mucolipidosis Type IV | – | – |
Who may qualify
- Ages
- 1 year to 64 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Subjects previously identified with Mucolipidosis Type IV
Key inclusion criteria (7 listed)
- Have a definitive diagnosis of MLIV based at least on a compatible history and significantly elevated blood gastrin levels
- Be able to travel to the Baylor Institute of Metabolic Disease in Dallas and spend 2-3 working days on site
- Be able to tolerate a general exam and neurological exam
- Be able to tolerate a modest amount of blood drawing, provide a urine specimen, and have a skin biopsy(if not previously done)
- Be able to tolerate the performance of necessary neuroimaging studies to include EEG and Head MRI
Key exclusion criteria (1 listed)
- -
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
Neuropsychological testing
Time frame: Annual by 5 years
6 secondary outcomes
Blood tests
Time frame: Annual by 5 years
Urine tests
Time frame: Annual by 5 years
MRI of the brain
Time frame: Annual by 5 years
Rehabilitation evaluation
Time frame: Annual by 5 years
Nutritional status evaluation
Time frame: Annual by 5 years
Skin biopsy
Time frame: 1 year only
Results and safety
The study was stopped early (reason given: PI left site). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Jan 2026.
- Derived from this study: PubMed 31883529Cougnoux A, Drummond RA, Fellmeth M, Navid F, Collar AL, Iben J, Kulkarni AB, Pickel J, Schiffmann R, Wassif CA, Cawley NX, Lionakis MS, Porter FD. Unique molecular signature in mucolipidosis type IV microglia. J Neuroinflammation. 2019 Dec 28;16(1):276. doi: 10.1186/s12974-019-1672-4.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Baylor Research Institute 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 7 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: stopped early, as of the sponsor's last update on 26 Jan 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?
The study was stopped early (reason given: PI left site). Results are not available in the source record.
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?
Neuropsychological testing (time frame: Annual by 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01067742, which also lists 1 linked publication.
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 26 Jan 2026.