Viewing Study NCT00001373



Ignite Creation Date: 2024-05-05 @ 10:00 AM
Last Modification Date: 2024-10-26 @ 9:02 AM
Study NCT ID: NCT00001373
Status: RECRUITING
Last Update Posted: 2024-07-15
First Post: 1999-11-03

Brief Title: Familial Mediterranean Fever and Related Disorders Genetics and Disease Characteristics
Sponsor: National Human Genome Research Institute NHGRI
Organization: National Institutes of Health Clinical Center CC

Study Overview

Official Title: An Exploratory Study of the Genetics Pathophysiology and Natural History of Autoinflammatory Diseases
Status: RECRUITING
Status Verified Date: 2024-10-04
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: This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever including familial Mediterranean fever TRAPS hyper-IgD syndrome and related diseases

The following individuals may be eligible for this natural history study 1 patients with known or suspected familial Mediterranean fever TRAPS hyper-IgD syndrome or related disorders 2 relatives of these patients 3 healthy normal volunteers 7 years of age or older

Patients will undergo a medical and family history physical examination blood and urine tests Additional tests and procedures may include the following

1 X-rays
2 Consultations with specialists
3 DNA sample collection blood or saliva sample for genetic studies These might include studies of specific genes or more complete sequencing of the genome
4 Additional blood samples a maximum of 1 pint 450 ml during a 6-week period for studies of white cell adhesion stickiness
5 Leukapheresis for collecting larger amounts of white cells for study For this procedure whole blood is collected through a needle in an arm vein The blood flows through a machine that separates it into its components The white cells are removed and the rest of the blood is returned to the body through another needle in the other arm

Patients may be followed approximately every 6 months to monitor symptoms adjust medicine dosages and undergo routine blood and urine tests They will receive genetic counseling by the study team on the risk of having affected children and be advised of treatment options

Participating relatives will undergo a medical and family history possibly with a review of medical records physical examination blood and urine tests Additional procedures may include a 24-hour urine collection X-rays and consultations with medical specialists A DNA sample blood or saliva will also be collected for genetic studies Additional blood samples of no more than 550 mL during an 8-week period may be requested for studies of white cell adhesion stickiness

Relatives who have familial Mediterranean fever TRAPS or hyper-IgD syndrome will receive the same follow-up and counseling as described for patients above

Normal volunteers and patients with gout will have a brief health interview and check of vital signs blood pressure and pulse and will provide a blood sample up to 90 ml or 6 tablespoons Additional blood samples of no more than 1 pint over a 6-week period may be requested in the future
Detailed Description: This is an exploratory natural history protocol that enrolls patients with known or as yet undiagnosed disorders of inflammation Blood saliva or buccal samples will be collected for genetic analysis blood samples will be obtained for immunologic and other functional studies a small number of subjects may undergo skin biopsy leukapheresis or bone marrow aspiration and biopsy and some subjects will be provided standard medical care follow up with retrospective analysis of the clinical data gathered during follow up The primary objective is to discover the genetic basis of human disorders of inflammation The secondary objective is to enumerate immunologic features and genotype-phenotype associations in specific autoinflammatory diseases The tertiary objective is to describe the clinical features of poorly characterized or newly defined disorders of inflammation This protocol provided clinical support for the identification of the gene mutated in familial Mediterranean fever FMF the discovery of the TNF receptor-associated periodic syndrome TRAPS the identification of NLRP3 mutations in the neonatal-onset multisystem inflammatory disease NOMID the discovery of the deficiency of the IL-1 receptor antagonist DIRA and the proposal of the now widely accepted concept of autoinflammatory disease During the last decade the protocol has provided the clinical foundation for the discovery of ten more monogenic autoinflammatory diseases seven of which were previously unrecognized as distinct diseases The protocol has also permitted numerous studies delineating the mechanisms of autoinflammation and its connections with the human innate immune system The work catalyzed by this protocol has provided the conceptual basis for a number of targeted therapies During the next decade the objective will be to utilize cutting edge genomic technologies to further advance discovery

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
94-HG-0105 None None None