Longitudinal Study of Neurodegenerative Disorders

University of Pittsburgh

Status: Enrolling

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

Treatments: Biological: Hematopoetic Stem Cell Transplantation; Other: Palliative Care

Study type: Observational

Funder types: Other

Identifiers

NCT03333200

STUDY19020318

Details and patient eligibility

About

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.

Full 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.

Enrollment: 1,500 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Any patient with a genetic neurodegenerative disorder

Exclusion criteria

• none