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
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.