Long-term observation of rare genetic brain disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Any patient with a genetic neurodegenerative disorder

Exclusion Criteria:

* none

Where it's running

• UPMC Children's Hospital of Pittsburgh
  Pittsburgh, Pennsylvania, United States Recruiting

Study contacts

• Study coordinator: Deepa Rajan, MD
• Email: rajands@upmc.edu
• Phone: 412-692-8388

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.