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Longitudinal Study of Neurodegenerative Disorders

NCT ID: NCT03333200

Last Updated: 2026-02-09

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-01-11

Study Completion Date

2035-01-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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MLD Krabbe Disease ALD MPS I MPS II MPS III Vanishing White Matter Disease GM3 Gangliosidosis PKAN Tay-Sachs Disease NP Deficiency Osteopetrosis Alpha-Mannosidosis Sandhoff Disease Niemann-Pick Diseases MPS IV Gaucher Disease GAN GM1 Gangliosidoses Morquio Disease S-Adenosylhomocysteine Hydrolase Deficiency Batten Disease Pelizaeus-Merzbacher Disease Leukodystrophy Lysosomal Storage Diseases Purine Nucleoside Phosphorylase Deficiency Multiple Sulfatase Deficiency Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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Palliative Care

Collecting information about the natural progression of these diseases

Intervention Type OTHER

Hematopoetic Stem Cell Transplantation

Following patients who have received HSCT as part of their clinical care.

Intervention Type BIOLOGICAL

Eligibility Criteria

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Inclusion Criteria

* Any patient with a genetic neurodegenerative disorder

Exclusion Criteria

* none
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University of Pittsburgh

OTHER

Sponsor Role lead

Responsible Party

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Deepa Soundara Rajan

Associate Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Deepa Rajan, MD

Role: CONTACT

[email protected]
412-692-8388

Facility Contacts

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Deepa Rajan, MD

Role: primary

[email protected]
412-692-8388

Other Identifiers

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STUDY19020318

Identifier Type: -

Identifier Source: org_study_id

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