ClinicalTrials.gov record NCT03333200
Longitudinal Study of Neurodegenerative Disorders
Longitudinal Study of Neurodegenerative Disorders
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational study follows people with rare genetic neurodegenerative disorders to document how these conditions change over time. Participants have regular multidisciplinary visits (every 3 months in year 1, every 6 months in year 2, then yearly), developmental testing, MRI scans, and collection of blood, CSF, and urine. The study records standardized measures of cognition, language, motor skills, and adaptive living for up to 15 years and tracks clinical interventions such as hematopoietic stem cell transplantation.
What it is studying. The study aims to learn the natural history of rare genetic brain disorders by collecting clinical assessments, repeated developmental scores, brain MRI data (including diffusion tensor imaging in early childhood), and biological samples. It also records information about interventions and palliative care that participants receive as part of their clinical care.
What the researchers hope to learn. To describe how cognitive, language, gross and fine motor, and adaptive skills change over time in these disorders; to collect exploratory biomarkers in blood, CSF, and urine; to measure brain neurodegeneration with diffusion tensor MRI in early childhood; and to document outcomes following hematopoietic stem cell transplantation.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Biological
- Hematopoetic Stem Cell Transplantation
- Other
- Palliative Care
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Any patient with a genetic neurodegenerative disorder
Exclusion criteria
- none
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
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.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants are evaluated by a multidisciplinary team on a regular schedule: every 3 months in the first year, every 6 months in the second year, and once a year thereafter. Visits include repeated standardized developmental tests for cognition, language, gross and fine motor skills, and adaptive living skills. The study may collect biological samples (blood, cerebrospinal fluid [CSF], and urine), include MRI diffusion tensor imaging for children from birth to 5 years, and will track key measures over many years (some outcomes are listed over 15 years). The study also collects information about palliative care and follows people who have received hematopoietic stem cell transplantation as part of their clinical care.
How the study is structured. A prospective observational cohort study. No treatments are assigned by the study. Participants are evaluated by a multidisciplinary team at set times: every 3 months in the first year, every 6 months in the second year, then once a year thereafter. Repeated standardized developmental testing is done (up to 15 years for primary measures), MRI diffusion tensor imaging is used to measure brain changes from birth to age 5, and blood, CSF, and urine are collected for exploratory biomarker analyses. The study follows people who have received hematopoietic stem cell transplantation as part of their clinical care and collects information about palliative care.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Krabbe disease
This trial is also listed on this site under alpha-mannosidosis, Gaucher disease, Hunter syndrome, Hurler syndrome, Niemann-Pick disease type C and Sanfilippo syndrome.
Important dates
- Study start
- Jan 11, 2012
- Primary completion
- January 2030 (estimated)
- Study completion
- January 2035 (estimated)
- Target enrollment
- 1500 participants (estimated)
- Last updated on registry
- Feb 9, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- University of Pittsburgh
- Principal investigator
- Deepa Soundara Rajan, Associate Professor
University of Pittsburgh
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Deepa Rajan, MD 📞 412-692-8388 ✉ rajands@upmc.edu
Participating sites (1)
- UPMC Children's Hospital of PittsburghRecruiting
Pittsburgh, Pennsylvania, 15224 · United States
- Deepa Rajan, MD · 412-692-8388 · rajands@upmc.edu
Terms used on this page · explanations by MedicalUpdates.ai
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
← Back to clinical trials