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Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis

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ClinicalTrials.gov Identifier: NCT00059748
Recruitment Status : Recruiting
First Posted : May 6, 2003
Last Update Posted : October 29, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) )

Tracking Information
First Submitted Date May 5, 2003
First Posted Date May 6, 2003
Last Update Posted Date October 29, 2019
Study Start Date April 30, 2003
Primary Completion Date Not Provided
Current Primary Outcome Measures
 (submitted: April 3, 2019)
Identification of disease pathogenesis [ Time Frame: each visit ]
Clinical, immunological, genetic and endocrinological characteristics of the disease
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00059748 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: April 3, 2019)
Evaluate subjects who may be eligible for treatment protocols [ Time Frame: each visit ]
Subject is determined to be eligible or not eligible for enrollment onto a treatment or intervention protocol.
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis
Official Title Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis
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 NOMID/CAPS, DIRA, CANDLE, SAVI, CRMO, Still's 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 cytokine/biomarker assessment, and gene expression profiling.<TAB>
  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. The prominent role of IL-1 in the pathogenesis of these disorders has first become evident through the discovery of mutations in CIAS1 causing the cryopyrin-associated periodic syndromes (CAPS) including the most severe presentation Neonatal Onset Multisystem Inflammatory Disease (NOMID). Over the years we identified additional autoinflammatory diseases including DIRA (Deficiency of IL-1 Receptor Antagonist), a disease that is caused by mutations in IL1RN. Therapy with anakinra, the IL-1 receptor antagonist, can be life-saving. We also study additional rare diseases not IL-1 mediated 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 dematomyositis (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. Clinical conditions including the spectrum CRMO (Chronic Recurrent Multifocal Osteomyelitis), Still s disease, and Beh(SqrRoot)(Beta)et s disease (BD) with possible involvement of IL-1 dysregulation are also of interest.. In this research protocol we seek to comprehensively evaluate affected patients clinically, genetically, immunologically, and endocrinologically. In addition we intend to evaluate longterm 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 Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Patients with auto inflammatory diseases
Condition
  • Urticaria
  • Arthropathy
  • Lymphadenopathy
  • Nervous System Anomalies
  • Autoinflammatory Disease
  • Juvenile Dermatomyositis
Intervention Not Provided
Study Groups/Cohorts 1
individuals affected by autoinflammatory multisystem diseases
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: April 3, 2019)
10000
Original Enrollment
 (submitted: June 23, 2005)
9999
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility Criteria
  • INCLUSION CRITERIA:
  • Patients with NOMID / CAPS or DIRA, CANDLE, SAVI, CRMO, Still's diseases, Behet's disease, JDM who are mutation positive for the disease or fulfill clinical criteria of the disease.
  • Patients who have non-infectious osteolytic bone lesions
  • Patients who fulfill criteria for definite or probable Still s disease
  • Patients who fulfill criteria for definite or probable Behcet s disease
  • Patients who fulfill criteria for definite or probable JDM
  • Patients with other suspected autoinflammatory diseases
  • There is:

    • No age limit
    • Patients or their legal guardians need to be able and willing to give informed consent and a pediatric patient needs to be willing to assent to the protocol whenever possible.
    • No exclusion based on pregnancy status.

Relatives of patients with autoinflammatory diseases or healthy volunteers may be included for genetic testing. The genetic evaluations will be conducted in collaboration with Dr. Fleisher s laboratory at the Clinical Center laboratory and other groups. See genetics consent form. We may also collect blood for serum and RNA analyses to establish a cohort of healthy controls that is matched in age, gender and ethnicity to the study patients. Skin biopsies for research may be requested from patients, patient relatives and healthy volunteers

EXCLUSION CRITERIA:

  • Active malignancy or any medical condition that in the opinion of the investigator would warrant exclusion
  • Inability to return for follow up visits
Sex/Gender
Sexes Eligible for Study: All
Ages up to 100 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Robert A Colbert, M.D. (301) 443-8935 colbertr@mail.nih.gov
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00059748
Other Study ID Numbers 030173
03-AR-0173
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) )
Study Sponsor National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Collaborators Not Provided
Investigators
Principal Investigator: Robert A Colbert, M.D. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date June 12, 2019