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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.
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Palliative Care | Other | Collecting information about the natural progression of these diseases | ||
| Hematopoetic Stem Cell Transplantation | Biological | Following patients who have received HSCT as part of their clinical care. |
| Measure | Description | Time Frame |
|---|---|---|
| Cognitive development | Repeated standardized age equivalent scores. | 15 years |
| Language development | Repeated standardized age equivalent scores. | 15 years |
| Gross Motor development . | Repeated standardized age equivalent scores. | 15 years |
| Fine Motor development | Repeated standardized age equivalent scores. | 15 years |
| Adaptive living skills | Repeated standardized age equivalent scores. | 15 years |
| Measure | Description | Time Frame |
|---|---|---|
| Exploratory biomarkers | Blood, CSF and urine | 15 years |
| Neurodegeneration of the brain as measured by MRI diffusion tensor imaging from birth to 5 years of age | Specialized technique to use DTI data to measure brain degeneration over time |
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Inclusion Criteria:
Exclusion Criteria:
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Persons with genetic neurodegenerative diseases.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Deepa Rajan, MD | Contact | 412-692-8388 | rajands@upmc.edu |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UPMC Children's Hospital of Pittsburgh | Recruiting | Pittsburgh | Pennsylvania | 15224 | United States |
The IPD will be shared after review and only under a DTA, CDA through our office of research.
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NDRD Biorepository includes: blood plasma and serum, CSF, brain and other tissues
| 5 years |
| ID | Term |
|---|---|
| D007965 | Leukodystrophy, Globoid Cell |
| D013398 | Sudden Infant Death |
| D009084 | Mucopolysaccharidosis III |
| D056784 | Leukoencephalopathies |
| D013661 | Tay-Sachs Disease |
| C562587 | Purine Nucleoside Phosphorylase Deficiency |
| D010022 | Osteopetrosis |
| D008363 | alpha-Mannosidosis |
| D012497 | Sandhoff Disease |
| D009542 | Niemann-Pick Diseases |
| D009085 | Mucopolysaccharidosis IV |
| D005776 | Gaucher Disease |
| C564683 | Hypermethioninemia |
| D009472 | Neuronal Ceroid-Lipofuscinoses |
| D020371 | Pelizaeus-Merzbacher Disease |
| D016464 | Lysosomal Storage Diseases |
| D052517 | Multiple Sulfatase Deficiency Disease |
| D007802 | Language |
| ID | Term |
|---|---|
| D020279 | Hereditary Central Nervous System Demyelinating Diseases |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D003711 | Demyelinating Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D003645 | Death, Sudden |
| D003643 | Death |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D066088 | Infant Death |
| D009083 | Mucopolysaccharidoses |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D017520 | Mucinoses |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D020143 | Gangliosidoses, GM2 |
| D005733 | Gangliosidoses |
| D010026 | Osteosclerosis |
| D010009 | Osteochondrodysplasias |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D044904 | Mannosidase Deficiency Diseases |
| D015616 | Histiocytosis, Non-Langerhans-Cell |
| D015614 | Histiocytosis |
| D008206 | Lymphatic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D052516 | Sulfatidosis |
| D003142 | Communication |
| D001519 | Behavior |
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| ID | Term |
|---|---|
| D010166 | Palliative Care |
| ID | Term |
|---|---|
| D005791 | Patient Care |
| D013812 | Therapeutics |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
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