Ignite Creation Date:
2024-05-05 @ 11:21 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001350
Status:
RECRUITING
Last Update Posted:
2024-07-15
First Post:
1999-11-03
Brief Title:
Study of Autoimmune Lymphoproliferative Syndrome ALPS
Sponsor:
National Institute of Allergy and Infectious Diseases NIAID
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Study of the Immunopathogenesis Natural History and Genetics of Autoimmune Lymphoproliferative Syndrome ALPS Associated With an Expansion of CD4-8-TCR AlphaBeta T Cells
Status:
RECRUITING
Status Verified Date:
2024-10-01
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:
The purpose of the protocol is to allow for patients and relatives of patients who may have the newly described autoimmune lymphoproliferative syndrome to be evaluated at the NIH Clinical Center This evaluation will include blood and relevant tissue studies along with long-term clinical evaluations to define the biology inheritanceclinical spectrum and natural history of this syndrome The aim of the research is to understand mechanisms involved in the development of expanded numbers of what is typically a rare population of immune cells CD4-8-TCRalphabeta T cells otherwise referred to as double negative T cells and how these relate to the development of expanded numbers of immune cells and autoimmune self against self responses in patients with ALPS
In some cases we may proivide treatment related to ALPS These treatments are consistent with standard medical practice
Participants with ALPS will be invited to visit the NIH once a year or more frequently when clinically indicated for the next few years for clinicians and scientists to follow the course of their disease and to manage its complications Knowledge gained from these studies provides important insights into the mechanisms of autoimmunity the thymus gland and the role that the immune system and genetics plays in ALPS
Autoimmune lymphoproliferative syndrome is a rare disease that affects both children and adults Each of these three words helps describe the main features of this condition The word autoimmune self-immune identifies ALPS as a disease of the immune system The tools used to fight germs turn against our own cells and cause problems The word lymphoproliferative describes the unusually large numbers of white blood cells called lymphocytes stored in the lymph nodes and spleens of people with ALPS The word syndrome refers to the many common symptoms shared by ALPS patients
One of the causes of ALPS is defective apoptosis or said another way an individual has an abnormality in how well lymphocytes immune cells die when they are instructed to do so It is normal for lymphocytes to disintegrate eg die when they have done their job In people with ALPS and in some of their affected relatives the genetic message for the cells to die is altered the message is not received and the cells do not die when they should As a result people with ALPS develop an enlarged spleen liver and lymph glands along with a range of other problems involving white blood cell counts and overactive immune responses autoimmune disease Some patients have an increased risk of developing lymphatic cancers lymphoma
Provided is a description of eligible study candidates
1 Any patient with ALPS male or female and of any age As a patient with ALPS candidates must have
a medical history of an enlarged spleen andor enlarged lymph nodes over an extended period of time past andor current
defective lymphocyte apoptosis in vitro
greater than or equal to 1 percent TCR alphabetaCD4-8- peripheral blood T cells
2 Relatives any age of patients and normal controls 18-65
3 Healthy normal volunteers will also be enrolled to provide data on normal cell behavior for comparison with patients
Additional information regarding ALPS and the research being conducted at the National Institutes of Health is available at the following World Wide Web eg Internet locations
httpwwwniaidnihgovpublicationsalps
httpwwwnhgrinihgovDIRGMBBALPS
In some cases we may proivide treatment related to ALPS These treatments are consistent with standard medical practice
Participants with ALPS will be invited to visit the NIH once a year or more frequently when clinically indicated for the next few years for clinicians and scientists to follow the course of their disease and to manage its complications Knowledge gained from these studies provides important insights into the mechanisms of autoimmunity the thymus gland and the role that the immune system and genetics plays in ALPS
Autoimmune lymphoproliferative syndrome is a rare disease that affects both children and adults Each of these three words helps describe the main features of this condition The word autoimmune self-immune identifies ALPS as a disease of the immune system The tools used to fight germs turn against our own cells and cause problems The word lymphoproliferative describes the unusually large numbers of white blood cells called lymphocytes stored in the lymph nodes and spleens of people with ALPS The word syndrome refers to the many common symptoms shared by ALPS patients
One of the causes of ALPS is defective apoptosis or said another way an individual has an abnormality in how well lymphocytes immune cells die when they are instructed to do so It is normal for lymphocytes to disintegrate eg die when they have done their job In people with ALPS and in some of their affected relatives the genetic message for the cells to die is altered the message is not received and the cells do not die when they should As a result people with ALPS develop an enlarged spleen liver and lymph glands along with a range of other problems involving white blood cell counts and overactive immune responses autoimmune disease Some patients have an increased risk of developing lymphatic cancers lymphoma
Provided is a description of eligible study candidates
1 Any patient with ALPS male or female and of any age As a patient with ALPS candidates must have
a medical history of an enlarged spleen andor enlarged lymph nodes over an extended period of time past andor current
defective lymphocyte apoptosis in vitro
greater than or equal to 1 percent TCR alphabetaCD4-8- peripheral blood T cells
2 Relatives any age of patients and normal controls 18-65
3 Healthy normal volunteers will also be enrolled to provide data on normal cell behavior for comparison with patients
Additional information regarding ALPS and the research being conducted at the National Institutes of Health is available at the following World Wide Web eg Internet locations
httpwwwniaidnihgovpublicationsalps
httpwwwnhgrinihgovDIRGMBBALPS
Detailed Description:
The purpose of this family based natural history protocol is to allow for patients and relatives of patients to be screened for Autoimmune Lymphoproliferative Syndrome ALPS and related disorders of apoptosis Ras Associated Leukoproliferative Disorder RALD Patients and relatives will be evaluated by mail-in samples or in person at the NIH Clinical Center if they meet the eligibility criteria This evaluation will include blood and relevant tissue studies along with long-term clinical evaluation to define the biology inheritance clinical spectrum and natural history of this syndrome The aim of the research studies is to elucidate mechanisms underlying the immune dysregulation due to defective apoptosis in these patients Knowledge gained from these studies provides important insights into the mechanisms of autoimmunity normal thymic and extra thymic T cell differentiation T-cell receptor TCR repertoire selection and lymphomagenesis
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 |
|---|---|---|---|
| 93-I-0063 | None | None | None |