The Mechanistic Biology of Primary Immunodeficiency Disorders

Conditions

• Primary Immunodeficiency Disorders

Eligibility Criteria

Sex

ALL

Age

1 Day - 90 Years

Healthy Volunteers

Accepted

Study Details

Background: Primary immunodeficiency disorders, or PIDs, are diseases that weaken the immune system. This makes it easier for a person to get sick. Some PIDs are mild and may not be diagnosed until later in life. Other kinds are severe and can be identified shortly after birth. Researchers want to learn more about PIDs by comparing data from relatives and healthy volunteers to people with a PID. Objective: To learn more about PIDs, including their genetic causes. Eligibility: People ages 0-90 with a PID or their healthy biological relatives the same ages Healthy volunteers ages 18-75 Design: Participants will be screened with a medical history, physical exam, and HIV blood test. They may have a pregnancy test. Participants may repeat the screening tests. Blood taken at screening will be used for genetic tests and research tests. Participants will be told test results that affect their health. Some blood will be stored for future research. Adult participants with a PID may have a small piece of skin removed. The area will be numbed. A small tool will take a piece of skin about the size of a pencil eraser. Researchers may collect fluid or tissue samples from PID participants regular medical care. They will use them for research tests. Participants with a PID will have 3 follow-up visits over 10 years (for infants, 2 years). Visits will include a physical exam, medical history, and blood draw. Participants with a PID and their relatives will be called once a year for 10 years. They will talk about how they are feeling and if they have developed any new symptoms or illnesses. ...

Key Dates

Start date

May 30, 2018

Status verified

Mar 2026

Primary completion

Dec 31, 2029

Completion

Dec 31, 2040

Study Design

Enrollment

2,500 participants (estimated)

Arms

• Arm: Affected Patient
  Person with a clinical diagnosis of a PID (age 0-90); either known or unknown as defined by lab and/or clinical findings on 2 or more occasions that are consistent with a defect in innate or adaptive immunity
• Arm: Normal Volunteer
  Persons (age 18-75 years) who are not related to another study subject, who do not have a PID, weight \>110lbs, no history of viral hepatitis B or C, have a negative HIV screening test
• Arm: Relative of Patient
  Biological relatives (age 0-90 years) of a subject who meets affected patient criteria, but who do not have a PID themselves

Primary Outcome Measure

Identification of unique clinical phenotypes associated with known genetic causes of PID. [ Time Frame: 10- 15 years ]

Central Contacts

• Luigi D Notarangelo, M.D.
  (301) 761-7550
  [email protected]

Locations (2)

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