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Study of the Immunopathogenesis, Natural History, and Genetics of Autoimmune Lymphoproliferative Syndrome (ALPS) Associated With an Expansion of CD4-8-/TCR Alpha/Beta+ T Cells


N/A
N/A
N/A
Open (Enrolling)
Both
Autoimmune Disease, Lymphatic Disease, Lymphoproliferative Disorder, Canale-Smith Syndrome

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Trial Information

Study of the Immunopathogenesis, Natural History, and Genetics of Autoimmune Lymphoproliferative Syndrome (ALPS) Associated With an Expansion of CD4-8-/TCR Alpha/Beta+ T Cells


The purpose of this family based natural history protocol is to allow for patients, and
relatives of patients to be screened for Autoimmune Lymphoproliferative Syndrome (ALPS) and
related disorders of apoptosis, RAS associated leukoproliferative disorder (RALD). Patients
and relatives will be evaluated at the NIH Clinical Center if they meet the eligibility
criteria. This evaluation will include blood and relevant tissue studies along with
long-term clinical evaluation to define the biology, inheritance, clinical spectrum, and
natural history of this syndrome. The aim of the research studies is to elucidate
mechanisms underlying heightened polyclonal and autoimmune responses in these patients.
Knowledge gained from these studies provides important insights into the mechanisms of
autoimmunity, normal thymic and extra thymic T cell differentiation, TCR repertoire
selection, and lymphomagenesis. Medically indicated management of ALPS-related autoimmune
disease and cytopenias will also be considered and provided, using standard of care
treatments.

Inclusion Criteria


- INCLUSION CRITERIA:

A. ALPS Natural History sample size and demographics:

Study size: up to 1000 patients, patients, relatives and normal controls.

Sex Distribution: Male and female

Age range: All ages acceptable

B. Eligibility Criteria for Natural History Study:

1. To be considered as having ALPS, patients must elevated TCR alpha/beta+ CD4-8-
peripheral blood DNT cells (equal to or greater than 1.5 percent of total lymphocytes
or 2.5 percent of CD3+ lymphocytes) in the setting of normal or evalted lymphocyte
counts.

2. A history of chronic (greater than 6 months) non-malignant, non-infectious
lymphadenopathy and/or splenomegaly.

3. Willingness to allow blood, tissue and other samples to be stored.

4. Patients with RALD (RAS associated leukoproliferative disorders) who present with
autoimmunity, lymphadenopathy and/or splenomegaly, with elevated or normal DNT's and
somatic mutations in NRAS and KRAS

C. Eligibility Criteria for Screening potential patients:

1. A history of chronic (greater than 6 months) lymphadenopathy and/or splenomegaly.

2. Willingness to allow blood, tissue and other samples to be stored.

D. Screening criteria for ALPS Relatives:

1. Extended family members of an ALPS patient are eligible for genetic screening to
determine if they carry the mutation found in their family.

2. Willingness to allow blood, tissue and other samples to be stored.

E. 1. Apheresis will be done only on healthy volunteers or patients with ALPS who have
adequate peripheral venous access. Women of childbearing age must have a negative
pregnancy test within 24 hours of the procedure and must not be breast-feeding.

EXCLUSION CRITERIA:

1. Any condition that the Principal Investigator deems to be non-conducive to the research
goals of the study.

Type of Study:

Observational

Study Design:

N/A

Principal Investigator

V. Koneti Rao, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Institute of Allergy and Infectious Diseases (NIAID)

Authority:

United States: Federal Government

Study ID:

930063

NCT ID:

NCT00001350

Start Date:

December 1992

Completion Date:

Related Keywords:

  • Autoimmune Disease
  • Lymphatic Disease
  • Lymphoproliferative Disorder
  • Canale-Smith Syndrome
  • Immunoregulation
  • T Cell Receptor Alpha/Beta
  • Lymphadenopathy
  • Autoimmune Lymphoproliferative Syndrome
  • ALPS
  • Autoimmune Diseases
  • Lymphatic Diseases
  • Lymphoproliferative Disorders
  • Smith-Lemli-Opitz Syndrome
  • Autoimmune Lymphoproliferative Syndrome

Name

Location

National Institutes of Health Clinical Center, 9000 Rockville PikeBethesda, Maryland  20892