MLDNCT03333200
Longitudinal Study of Neurodegenerative Disorders
An observational study of MLD and Krabbe Disease, run by University of Pittsburgh at 1 site in United States.
Trial summary
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- MLD, Krabbe Disease, ALD
- What is being tested?
- Palliative Care and Hematopoetic Stem Cell Transplantation
- How many people
- 1,500 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Jan 2012to Jan 2035
- 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
- No healthy volunteers
- Child, Adult, Older adult
Study population: Persons with genetic neurodegenerative diseases.
Who may be able to join
- Any patient with a genetic neurodegenerative disorder
Who cannot join
- none
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
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Deepa Rajan, MD, 412-692-8388, rajands@upmc.edu
About this study
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Read the detailed description
Patients would be evaluated by a multidisciplinary team at specific time points every 3 months the first year, every 6 months the second year and once a year thereafter.
- Being tested
- Palliative Care, Hematopoetic Stem Cell Transplantation
- Keywords
- Pediatric, Rare, Neurodegenerative, Genetic, Neurodevelopment, Brain, MRI, Biorepository, NDRD, Longitudinal, Cognitive, Motor, Language, Adaptive behavior
- Medical subject headings
- Leukodystrophy, Globoid Cell, Sudden Infant Death, Mucopolysaccharidosis III, Leukoencephalopathies, Tay-Sachs Disease, Purine Nucleoside Phosphorylase Deficiency, Osteopetrosis, alpha-Mannosidosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Palliative CareOther
Collecting information about the natural progression of these diseases
Hematopoetic Stem Cell TransplantationBiological
Following patients who have received HSCT as part of their clinical care.
What is being measured
The primary outcome is the main question the study is designed to answer.
Cognitive development
Repeated standardized age equivalent scores.
Measured: 15 years
Language development
Repeated standardized age equivalent scores.
Measured: 15 years
Gross Motor development .
Repeated standardized age equivalent scores.
Measured: 15 years
Fine Motor development
Repeated standardized age equivalent scores.
Measured: 15 years
Adaptive living skills
Repeated standardized age equivalent scores.
Measured: 15 years
Secondary outcomes (2)
Exploratory biomarkers
Blood, CSF and urine
Measured: 15 years
Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age
Specialized technique to use DTI data to measure brain degeneration over time
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Nov 2017
- Study start11 Jan 2012
- Primary completionJan 2030 (estimated)
- Study completionJan 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MLDStudies of the same condition, open and under way.
- More trials run by University of PittsburghThe 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
- 1,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Pittsburgh
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Deepa Soundara Rajan, University of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03333200
- Sponsor's protocol ID
- STUDY19020318
- Status last verified
- Feb 2026
- First submitted
- 24 Apr 2017
- Last updated
- 9 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: The IPD will be shared after review and only under a DTA, CDA through our office of research.
Study at a glance
From the registry record, last updated by the sponsor on 9 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Study of Neurodegenerative Disorders
- ClinicalTrials.gov ID
- NCT03333200
- Acronym / sponsor ID
- STUDY19020318
- Keywords
- Pediatric, Rare, Neurodegenerative, Genetic, Neurodevelopment, Brain, MRI, Biorepository
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- University of PittsburghUniversity, hospital or other
- Study start
- 11 Jan 2012 (actual)
- Primary completion
- Jan 2030 (estimated)
- Study completion
- Jan 2035 (estimated)
- First posted
- 6 Nov 2017 (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 purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.
Detailed description
Patients would be evaluated by a multidisciplinary team at specific time points every 3 months the first year, every 6 months the second year and once a year thereafter.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Persons with genetic neurodegenerative diseases.
Key inclusion criteria (1 listed)
- Any patient with a genetic neurodegenerative disorder
Key exclusion criteria (1 listed)
- none
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 |
|---|---|---|
| Palliative CareCollecting information about the natural progression of these diseases | Other | – |
| Hematopoetic Stem Cell TransplantationFollowing patients who have received HSCT as part of their clinical care. | Biological | – |
Primary outcome
Cognitive development
Time frame: 15 years
Repeated standardized age equivalent scores.
Language development
Time frame: 15 years
Repeated standardized age equivalent scores.
Gross Motor development .
Time frame: 15 years
Repeated standardized age equivalent scores.
Fine Motor development
Time frame: 15 years
Repeated standardized age equivalent scores.
Adaptive living skills
Time frame: 15 years
Repeated standardized age equivalent scores.
2 secondary outcomes
Exploratory biomarkers
Time frame: 15 years
Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age
Time frame: 5 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 9 Feb 2026.
- Individual participant dataSharing planned: Undecided. The IPD will be shared after review and only under a DTA, CDA through our office of research.
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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.
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 MLD and Krabbe Disease, run by University of Pittsburgh 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: looking for participants now, as of the sponsor's last update on 9 Feb 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 Deepa Rajan, MD (412-692-8388, rajands@upmc.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cognitive development (time frame: 15 years). The study lists 5 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 9 Feb 2026.