Actively Recruiting

Age: 0 - 99Years
All Genders
ID00001350

Study of Autoimmune Lymphoproliferative Syndrome (ALPS) Immunopathogenesis, Natural History, and Genetics with Expanded CD4-8-/TCR Alpha/Beta+ T Cells

Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-04-29

1200

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are investigating Autoimmune Lymphoproliferative Syndrome (ALPS), a rare immune disorder affecting children and adults, characterized by an abnormal increase of certain immune cells and autoimmune problems. This study aims to understand the biology, inheritance, clinical symptoms, and natural history of ALPS and related disorders by examining patients and their relatives. The research focuses on how defective cell death (apoptosis) leads to immune system dysregulation and disease development, including enlarged lymph nodes and spleen, and sometimes increased cancer risk. Participants with ALPS, their relatives, and healthy volunteers will be evaluated through blood and tissue studies either by mail-in samples or in person at the NIH Clinical Center. Patients will be invited for yearly visits or more frequently if needed to monitor disease progression and manage complications. The study may also provide standard medical treatments related to ALPS. Evaluations include long-term clinical assessments to explore immune cell behavior and genetics. During the study, participants will undergo blood and tissue collection, clinical evaluations, and laboratory tests to better understand immune cell populations and autoimmune mechanisms. Researchers will monitor participants over many years, with a median follow-up of 25 years, to clarify the immune dysregulation causing ALPS and to develop targeted treatments. The study also includes healthy volunteers to provide baseline data for comparison. Safety and disease progression are closely observed throughout participation.

CONDITIONS

Official Title

Study of Autoimmune Lymphoproliferative Syndrome (ALPS)

Who Can Participate

Age: 0 - 99Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Aged 0 to 99 years (must be at least 3 years old to be seen at NIH Clinical Center)
  • History of chronic (more than 6 months) enlarged lymph nodes and/or spleen (exception for newborns with family history)
  • Willing to allow storage of blood, tissue, and other samples
  • Extended blood relatives of ALPS patients
  • Able to provide informed consent
  • Patients with elevated CD3+TCR alpha/beta+ CD4-8- double negative T cells (≥1.5% of total lymphocytes or 2.5% of CD3+ lymphocytes)
  • Patients with Ras Associated Leukoproliferative Disorder (RALD) presenting with autoimmunity, lymphadenopathy, or splenomegaly and somatic mutations in NRAS or KRAS
  • Pregnant or breastfeeding women eligible with limited evaluation
  • Viable neonates eligible but not seen in person at NIH
  • Adults unable to consent may participate with safeguards
Not Eligible

You will not qualify if you...

  • Any condition deemed by the principal investigator to be non-conducive to the research goals of the study

AI-Screening

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Trial Site Locations

Total: 1 location

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

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Research Team

A

Alanvin D Orpia, R.N.

V

V. Koneti Rao, M.D.

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

Frequently Asked Questions

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Published Research Related To This Trial