Long-term observation of rare genetic brain disorders

Longitudinal Study of Neurodegenerative Disorders

University of Pittsburgh · NCT03333200

This study is tracking how rare genetic brain disorders progress over time to better understand their effects on patients.

Quick facts

Study typeObservational
Enrollment1500 (estimated)
SexAll
SponsorUniversity of Pittsburgh (other)
Locations1 site (Pittsburgh, Pennsylvania)
Trial IDNCT03333200 on ClinicalTrials.gov

What this trial studies

This observational study aims to track the progression of rare genetic neurodegenerative disorders such as MLD, Krabbe Disease, ALD, MPS I, and MPS II. Patients will be assessed by a multidisciplinary team at designated intervals: every 3 months during the first year, every 6 months in the second year, and annually thereafter. The collected data will help researchers understand the natural history of these conditions and the impact of various interventions.

Who should consider this trial

Good fit: Ideal candidates for this study include any patient diagnosed with a genetic neurodegenerative disorder.

Not a fit: Patients who do not have a genetic neurodegenerative disorder will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide valuable insights into the progression of rare neurodegenerative disorders, potentially leading to improved management and treatment strategies.

How similar studies have performed: While this study focuses on rare conditions, similar longitudinal studies have shown success in understanding other neurodegenerative disorders, suggesting a potential for valuable findings.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Any patient with a genetic neurodegenerative disorder

Exclusion Criteria:

* none

Where this trial is running

Pittsburgh, Pennsylvania

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.

View on ClinicalTrials.gov →

Conditions: MLD, Krabbe Disease, ALD, MPS I, MPS II, MPS III, Vanishing White Matter Disease, GM3 Gangliosidosis

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.