Ignite Creation Date:
2024-05-05 @ 11:29 AM
Last Modification Date:
2024-10-26 @ 9:08 AM
Study NCT ID:
NCT00059748
Status:
RECRUITING
Last Update Posted:
2024-07-12
First Post:
2003-05-05
Brief Title:
Studies of the Natural History Pathogenesis and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis
Sponsor:
National Institute of Arthritis and Musculoskeletal and Skin Diseases NIAMS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Studies of Natural History Pathogenesis and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis
Status:
RECRUITING
Status Verified Date:
2024-09-26
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:
Purpose
The purpose of this protocol is 1 To comprehensively evaluate patients with autoinflammatory diseases clinically genetically and immunologically at the autoinflammatory disease clinic at the NIH 2 To follow patients with autoinflammatory Diseases that are genetically defined including Neonatal-Onset Multisystem Inflammatory Disease NOMID the most severe clinical phenotype of Cryopyrin-Associated Periodic Syndromes CAPS Deficiency of IL-1 Receptor Antagonist DIRA Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperatures CANDLE and STING-Associated Vasculopathy with onset in Infancy SAVI and those with genetically undefined autoinflammatory disorders to determine long-term disease outcomes 3 To develop biomarkers that help us assess disease activity and response to treatment 4 To assess the eligibility of affected patients for inclusion in ongoing and planned treatment protocols
Goal The goals of our studies are to understand the underlying immune dysregulation to identify the genetic cause and to translate our findings into novel treatments that improve patients disease outcome
Eligibility
Patients with known NOMIDCAPS DIRA CANDLE SAVI CRMO Stills Disease and with other yet undifferentiated autoinflammatory diseases
Healthy adult and pediatric relatives
Volunteers
Design
Participants will be evaluated at the NIH for 2-5 days All participants will have a detailed medical history physical exam blood tests and other evaluations depending on the extend of their autoinflammatory disease
Participants may also expect the following assessments
1 Clinical test that help assess organ damage and functional impact such as hearing vision memory and learning tests
2 Imaging studies to characterize the organ involvement of the inflammatory disease including X-rays CT scans special MRIs bone scans
3 Laboratory evaluations including clinical markers of disease activity research samples for genetic studies and blood samples for cytokinebiomarker assessment and gene expression profilingTAB
4 Completion of questionnaires to assess disease activity and quality of life
5 If indicated other procedures may be administered that include a lumbar puncture if CNS inflammation is suspected and a skin biopsy if skin inflammation is present other gastrointestinal procedures as they are clinically indicated
6 Patients my have a research skin biopsy taken
Participants may return for a single follow-up visits or for long term-follow up depending on their disease and willingness to be followed long-term
The purpose of this protocol is 1 To comprehensively evaluate patients with autoinflammatory diseases clinically genetically and immunologically at the autoinflammatory disease clinic at the NIH 2 To follow patients with autoinflammatory Diseases that are genetically defined including Neonatal-Onset Multisystem Inflammatory Disease NOMID the most severe clinical phenotype of Cryopyrin-Associated Periodic Syndromes CAPS Deficiency of IL-1 Receptor Antagonist DIRA Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperatures CANDLE and STING-Associated Vasculopathy with onset in Infancy SAVI and those with genetically undefined autoinflammatory disorders to determine long-term disease outcomes 3 To develop biomarkers that help us assess disease activity and response to treatment 4 To assess the eligibility of affected patients for inclusion in ongoing and planned treatment protocols
Goal The goals of our studies are to understand the underlying immune dysregulation to identify the genetic cause and to translate our findings into novel treatments that improve patients disease outcome
Eligibility
Patients with known NOMIDCAPS DIRA CANDLE SAVI CRMO Stills Disease and with other yet undifferentiated autoinflammatory diseases
Healthy adult and pediatric relatives
Volunteers
Design
Participants will be evaluated at the NIH for 2-5 days All participants will have a detailed medical history physical exam blood tests and other evaluations depending on the extend of their autoinflammatory disease
Participants may also expect the following assessments
1 Clinical test that help assess organ damage and functional impact such as hearing vision memory and learning tests
2 Imaging studies to characterize the organ involvement of the inflammatory disease including X-rays CT scans special MRIs bone scans
3 Laboratory evaluations including clinical markers of disease activity research samples for genetic studies and blood samples for cytokinebiomarker assessment and gene expression profilingTAB
4 Completion of questionnaires to assess disease activity and quality of life
5 If indicated other procedures may be administered that include a lumbar puncture if CNS inflammation is suspected and a skin biopsy if skin inflammation is present other gastrointestinal procedures as they are clinically indicated
6 Patients my have a research skin biopsy taken
Participants may return for a single follow-up visits or for long term-follow up depending on their disease and willingness to be followed long-term
Detailed Description:
Autoinflammatory multisystem diseases are a group of diseases that are characterized by recurrent episodes of systemic inflammation as well as organ specific inflammation that can involve the skin eyes joints bones serosal surfaces inner ear and brain We study rare diseases including CANDLE chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures caused by mutations in proteasome components and recently SAVI STING associated vasculopathy with onset in infancy caused by mutations in TMEM173 and juvenile dermatomyositis JDM which shares some phenotypic features as well as an interferon IFN signature with SAVI and CANDLE Many additional autoinflammatory phenotypes have no genetic causes including autoinflammatory disorders that are not even clinically defined In this research protocol we seek to comprehensively evaluate affected patients clinically genetically immunologically and endocrinologically In addition we intend to evaluate long- term outcomes and biomarkers over the time of observations Eligibility for ongoing and planned treatment protocols will be determined by screening patients in this protocol We plan to evaluate patients on a consultative basis for other autoinflammatory diseases for possible enrollment into this study
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 |
|---|---|---|---|
| 03-AR-0173 | None | None | None |