Ignite Creation Date:
2024-05-05 @ 11:19 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00006057
Status:
COMPLETED
Last Update Posted:
2005-06-24
First Post:
2000-07-05
Brief Title:
Diagnostic and Screening Study of Genetic Disorders
Sponsor:
National Center for Research Resources NCRR
Organization:
National Center for Research Resources NCRR
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2002-04
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:
OBJECTIVES I Determine the phenotypic heterogeneity of patients with genetic disorders including their clinical spectrum and natural history
II Develop and evaluate novel methods for the treatment of genetic disorders including metabolic manipulation enzyme manipulation enzyme replacement enzyme transplantation and gene transfer techniques in these patients
III Develop and evaluate methods for the prenatal diagnosis of genetic disorders using improved cytogenetic biochemical and nucleic acid techniques and amniotic fluid cells or chorionic villi in these patients
II Develop and evaluate novel methods for the treatment of genetic disorders including metabolic manipulation enzyme manipulation enzyme replacement enzyme transplantation and gene transfer techniques in these patients
III Develop and evaluate methods for the prenatal diagnosis of genetic disorders using improved cytogenetic biochemical and nucleic acid techniques and amniotic fluid cells or chorionic villi in these patients
Detailed Description:
PROTOCOL OUTLINE
Patients are evaluated annually or biannually depending on disease status and progression Patients undergo a complete medical history an extensive family pedigree and a physical examination Patients undergo general laboratory imaging physiologic and clinical laboratory studies according to their disease type Patients undergo specialized laboratory studies including plasma and leukocyte enzyme assays quantitative urinary mucopolysaccharides and oligosaccharides urine and plasma glycolipids plasma and urine amino acids urine organic acids lymphoblastoid culture DNA isolation from peripheral leukocytes skin biopsy for fibroblast culture if indicated and medical photography Patients also receive consultations with various specialties including ophthalmology ENT cardiology pulmonary gastroenterologynutrition hematology neurology orthopedics rehabilitation medicinephysical therapy and dermatology
Patients are evaluated annually or biannually depending on disease status and progression Patients undergo a complete medical history an extensive family pedigree and a physical examination Patients undergo general laboratory imaging physiologic and clinical laboratory studies according to their disease type Patients undergo specialized laboratory studies including plasma and leukocyte enzyme assays quantitative urinary mucopolysaccharides and oligosaccharides urine and plasma glycolipids plasma and urine amino acids urine organic acids lymphoblastoid culture DNA isolation from peripheral leukocytes skin biopsy for fibroblast culture if indicated and medical photography Patients also receive consultations with various specialties including ophthalmology ENT cardiology pulmonary gastroenterologynutrition hematology neurology orthopedics rehabilitation medicinephysical therapy and dermatology
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| MTS-GCO-88-459 | None | None | None |