Idiopathic Diseases of Man

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

10 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-09-30

Study Completion Date

2030-12-31

Brief Summary

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This research is being done to learn more about possible genetic causes of currently undiagnosed conditions, and to find out how the development of new technologies, such as DNA sequencing, can increase knowledge of the role genetic variants play in disorders and possibly how genetic variants may help de-termine the best treatment options.

The recent development of new technologies has increased our ability to understand how genetic mutations are associated with disease. Using these technologies to find the genetic variants responsible for rare diseases is a rapidly growing field and has already begun to transform the way conditions with unknown causes are diagnosed and treated.

Hypothesis: Identification of new genomic variants associated with idiopathic diseases and/or diseases of unknown etiology will advance medical knowledge about rare and common diseases.

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Detailed Description

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Conditions

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Rare Disease Idiopathic Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with idiopathic diseases

Study population is limited to individuals with a rare severe illness, and/or their family members.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

1. Individual with rare disorder with previous unknown etiology.
2. Individual with known disorder that does not respond to conventional treatment.
3. Individual experienced a rare adverse event that was a result of the administration of a pharmacologic or biologic agent, immunization or device.
4. Individual is a family member of the affected individual. -

Exclusion Criteria

1. Unwilling or unable to grant informed consent if they do not have a legal guardian who has authority to sign a consent form on their behalf.
2. Have a significant medical, affective, or psychiatric condition that in the Investigator's opinion may interfere with subject's study participation.

Eligible Sex

ALL

Accepts Healthy Volunteers

No