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| ID | Type | Description | Link |
|---|---|---|---|
| U54NS065768 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| Rare Diseases Clinical Research Network | NETWORK |
| National Center for Advancing Translational Sciences (NCATS) | NIH |
| National Institute of Neurological Disorders and Stroke (NINDS) | NIH |
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Hypothesis: Children diagnosed with a lysosomal disease will exhibit developmental, adaptive, and behavioral strengths and difficulties depending upon 1) biomedical risk factors (i.e. the specific genetic disorder responsible for the illness); 2) available modifying interventions, whether medical or behavioral; and 3) social risks in the children's families, neighborhoods and communities. A valid and reliable telephone-based surveillance system can successfully collect the data required to elucidate these developmental, adaptive and behavioral strengths and difficulties.
Children who have lysosomal disease experience declines in health status and central nervous system integrity which result in motor, communication, self-care, learning and behavioral challenges. Medical interventions such as enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation can improve the health and functioning of children with lysosomal disease. To date, however, there is no established system for evaluating the health status, developmental status, behavioral outcomes or functional outcomes of these preschool-aged children across time and differing settings. The primary objective of this study is to develop a valid and reliable telephone-based data-gathering system for obtaining health status data, developmental status data, behavioral outcomes data, and functional outcomes data which reflect skills of daily living including feeding, moving, communicating and responding to others.
The secondary objective of this study is to assess the validity of several early-childhood standardized assessment tools as compared to the standard neuropsychological assessment battery specified by the Lysosomal Disease Network's 'Neurobehavioral Core.'
The third objective of this study is to describe the impact of lysosomal disease upon the families of lysosomal disease-affected children.
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| Measure | Description | Time Frame |
|---|---|---|
| Change in Health Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years | Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the lysosomal disease-affected child's health status. | Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment |
| Measure | Description | Time Frame |
|---|---|---|
| Change in the Behavioral Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years | Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the behavioral outcomes of the immediate family of the lysosomal disease-affected child. |
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Inclusion Criteria:
Children aged 1 to 84 months who have been diagnosed with MPS types I, II, III or VI. Children aged 1 to 84 months who have been diagnosed with some other lysosomal disease. Children aged birth to 18 years who have been diagnosed with Krabbe disease, or who have a positive screening for Krabbe disease.
Exclusion Criteria:
Children who do not have a lysosomal disease are excluded from this study.
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| Name | Affiliation | Role |
|---|---|---|
| Michael Msall, M.D. | University of Chicago | Principal Investigator |
| Patricia K. Duffner, M.D. | Hunter James Kelly Institute in Buffalo, New York | Principal Investigator |
| Chester B. Whitley, Ph.D., M.D. | University of Minnesota | Principal Investigator |
| Nancy Lyon, CPNP | Hunter James Kelly Institute in Buffalo, New York | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Chicago | Chicago | Illinois | 60637 | United States | ||
| University of Minnesota |
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| Label | URL |
|---|---|
| Rare Diseases Clinical Research Network | View source |
| Hunter James Kelly Research Institute | View source |
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| National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) | NIH |
| University of Minnesota | OTHER |
| State University of New York at Buffalo | OTHER |
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None collected; this is data-collection only, via a telephone-interview of children's care-givers.
| Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment |
| Change in Developmental Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years | Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the lysosomal disease-affected child's developmental status. | Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment |
| Change in Behavioral Outcomes of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years | Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the lysosomal disease-affected child's behavioral outcomes. | Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment |
| Change in Functional Outcomes of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years | Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the lysosomal disease-affected child's functional outcomes. | Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment |
| Change in the Functional Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years | Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the functional outcomes of the immediate family of the lysosomal disease-affected child. | Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment |
| Change in the Well-Being of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years | Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the state of well-being of the immediate family of the lysosomal disease-affected child. | Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment |
| Minneapolis |
| Minnesota |
| 55455 |
| United States |
| Hunter James Kelly Institute | Buffalo | New York | 14203 | United States |
| ID | Term |
|---|---|
| D008059 | Mucopolysaccharidosis I |
| D016532 | Mucopolysaccharidosis II |
| D013398 | Sudden Infant Death |
| D009084 | Mucopolysaccharidosis III |
| D009087 | Mucopolysaccharidosis VI |
| D007965 | Leukodystrophy, Globoid Cell |
| D009083 | Mucopolysaccharidoses |
| ID | Term |
|---|---|
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D016464 | Lysosomal Storage Diseases |
| D017520 | Mucinoses |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D038901 | X-Linked Intellectual Disability |
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D003645 | Death, Sudden |
| D003643 | Death |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D066088 | Infant Death |
| D020279 | Hereditary Central Nervous System Demyelinating Diseases |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D056784 | Leukoencephalopathies |
| D003711 | Demyelinating Diseases |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D052439 | Lipid Metabolism Disorders |
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