Ignite Creation Date:
2024-05-05 @ 11:24 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00029965
Status:
RECRUITING
Last Update Posted:
2024-07-03
First Post:
2002-01-27
Brief Title:
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Status:
RECRUITING
Status Verified Date:
2024-10-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Study description
This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis sialidosis or galactosialidosis Patients may be evaluated every 6 months for infantile onset disease yearly for juvenile onset and approximately every two years for adult-onset disease as long as they are clinically stable to travel Data will be evaluated serially for each patient and cross-sectionally for patients of similar ages and genotypes Genotype-phenotype correlations will be made where possible although these are rare disorders and the majority of the patients are compound heterozygotes
Objectives
To study the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders GSL GM1 and GM2 gangliosidosis and glycoprotein GP disorders including sialidosis and galactosialidosis using clinical evaluation of patients and patientparent surveys
To develop sensitive tools for monitoring disease progression
To identify biological markers in blood cerebrospinal fluid and urine that correlate with disease severity and progression and can be used as outcome measures for future clinical trials
To further understand and characterize the mechanisms of neurodegeneration in GSL and GP storage disorders across the spectrum of disease beginning with ganglioside storage in fetal life
Endpoints
Exploring the natural history of Lysosomal Storage Diseases and Glycoprotein Disorders
Study Population
Patients with enzyme or DNA confirmed GM1 or GM2 gangliosidosis sialidosis or galactosialidosis Accrual ceiling is 200 participants No exclusions based on age gender demographic group or demographic location Patients included in our study are those that are seen at the NIH Clinical Center subjects that have only sent in blood samples as well as those who complete the questionnaire or provided head circumference measures
This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis sialidosis or galactosialidosis Patients may be evaluated every 6 months for infantile onset disease yearly for juvenile onset and approximately every two years for adult-onset disease as long as they are clinically stable to travel Data will be evaluated serially for each patient and cross-sectionally for patients of similar ages and genotypes Genotype-phenotype correlations will be made where possible although these are rare disorders and the majority of the patients are compound heterozygotes
Objectives
To study the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders GSL GM1 and GM2 gangliosidosis and glycoprotein GP disorders including sialidosis and galactosialidosis using clinical evaluation of patients and patientparent surveys
To develop sensitive tools for monitoring disease progression
To identify biological markers in blood cerebrospinal fluid and urine that correlate with disease severity and progression and can be used as outcome measures for future clinical trials
To further understand and characterize the mechanisms of neurodegeneration in GSL and GP storage disorders across the spectrum of disease beginning with ganglioside storage in fetal life
Endpoints
Exploring the natural history of Lysosomal Storage Diseases and Glycoprotein Disorders
Study Population
Patients with enzyme or DNA confirmed GM1 or GM2 gangliosidosis sialidosis or galactosialidosis Accrual ceiling is 200 participants No exclusions based on age gender demographic group or demographic location Patients included in our study are those that are seen at the NIH Clinical Center subjects that have only sent in blood samples as well as those who complete the questionnaire or provided head circumference measures
Detailed Description:
Study description
This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis sialidosis or galactosialidosis Patients may be evaluated every 6 months for infantile onset disease yearly for juvenile onset and approximately every two years for adult-onset disease as long as they are clinically stable to travel Data will be evaluated serially for each patient and cross-sectionally for patients of similar ages and genotypes Genotype-phenotype correlations will be made where possible although these are rare disorders and the majority of the patients are compound heterozygotes
Objectives
To study the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders GSL GM1 and GM2 gangliosidosis and glycoprotein GP disorders including sialidosis and galactosialidosis using clinical evaluation of patients and patientparent surveys
To develop sensitive tools for monitoring disease progression
To identify biological markers in blood cerebrospinal fluid and urine that correlate with disease severity and progression and can be used as outcome measures for future clinical trials
To further understand and characterize the mechanisms of neurodegeneration in GSL and GP storage disorders across the spectrum of disease beginning with ganglioside storage in fetal life
Endpoints
Exploring the natural history of Lysosomal Storage Diseases and Glycoprotein Disorders
Study Population
Patients with enzyme or DNA confirmed GM1 or GM2 gangliosidosis sialidosis or galactosialidosis Accrual ceiling is 200 participants No exclusions based on age gender demographic group or demographic location Patients included in our study are those that are seen at the NIH Clinical Center subjects that have only sent in blood samples as well as those who complete the questionnaire or provided head circumference measures
This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis sialidosis or galactosialidosis Patients may be evaluated every 6 months for infantile onset disease yearly for juvenile onset and approximately every two years for adult-onset disease as long as they are clinically stable to travel Data will be evaluated serially for each patient and cross-sectionally for patients of similar ages and genotypes Genotype-phenotype correlations will be made where possible although these are rare disorders and the majority of the patients are compound heterozygotes
Objectives
To study the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders GSL GM1 and GM2 gangliosidosis and glycoprotein GP disorders including sialidosis and galactosialidosis using clinical evaluation of patients and patientparent surveys
To develop sensitive tools for monitoring disease progression
To identify biological markers in blood cerebrospinal fluid and urine that correlate with disease severity and progression and can be used as outcome measures for future clinical trials
To further understand and characterize the mechanisms of neurodegeneration in GSL and GP storage disorders across the spectrum of disease beginning with ganglioside storage in fetal life
Endpoints
Exploring the natural history of Lysosomal Storage Diseases and Glycoprotein Disorders
Study Population
Patients with enzyme or DNA confirmed GM1 or GM2 gangliosidosis sialidosis or galactosialidosis Accrual ceiling is 200 participants No exclusions based on age gender demographic group or demographic location Patients included in our study are those that are seen at the NIH Clinical Center subjects that have only sent in blood samples as well as those who complete the questionnaire or provided head circumference measures
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 02-HG-0107 | None | None | None |