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NCT01186913

Natural History Study of SCID Disorders

Enrolling by Invitation
Not specifiedAll AgesObservational
National Institute of Allergy and Infectious Diseases (NIAID)
~690 participants
Updated 2020-11-10 on ClinicalTrials.gov

At a glance

Recruiting sites
0 of 44 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Overall Survival (OS) at Month 6 Post HCT
Measured over Month 6 Post HCT
+3 more outcomes measured

Conditions

Severe Combined Immunodeficiency (SCID)
Leaky SCID
Omenn Syndrome
Reticular Dysgenesis
ADA SCID
XSCID

Explore related trials

Adenosine Deaminase DeficiencyLeaky Severe Combined ImmunodeficiencyOmenn SyndromeReticular DysgenesisSevere Combined ImmunodeficiencyTypical SCIDX-Linked Severe Combined ImmunodeficiencyAK2 GeneCD3 ComplexCD4+/45RA+/CD31+ or CD4+/45RA+/CD62L+ cellsCD45ROHLA-DR AntigenIL2RG GeneMaternal lymphocytesMaternal T cellsMutant protein activitySCID-causing geneT cell function (PHA response)T cell proliferation (Candida/Tetanus)T cell proliferation (PHA response)T cellsTRECs

Where it's being run

44 sites across 31 states
California4
New York3
Ohio3
Texas3
Minnesota2
Missouri2
Pennsylvania2
Wisconsin2

Study leadership

  • Christopher C. Dvorak, MD · PRINCIPAL_INVESTIGATOR · UCSF Children's Hospital
  • Morton J. Cowan, MD · PRINCIPAL_INVESTIGATOR · UCSF Children's Hospital

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Absence or very low number of T cells (CD3 T cells \<300/microliter) AND
No or very low T cell function (\<10% of lower limit of normal) as measured by response to phytohemagglutinin (PHA) OR
T cells of maternal origin present.
Subjects who meet the following criteria and the intention is to treat with HCT are eligible for enrollment into Stratum B:
Maternal lymphocytes tested for and not detected AND
Either one or both of the following (a,b) :
a.) \<50% of lower limit of normal T cell function as measured by response to PHA, OR response to anti-CD3/CD28 antibody
b.) Absent or \<30% of lower limit of normal proliferative responses to candida and tetanus toxoid antigens
AND at least two of the following (a through e):
a.) Reduced number of CD3 T cells
age ≤2 years: \<1500/microliter
age \>2 years and ≤4 years: \<800/microliter
age \>4 years: \<600/microliter
b.) ≥80% of CD3+ or CD4+ T cells that are CD45RO+
AND/OR \>80% of CD3+ or CD4+ T cells are CD62L negative
AND/OR \>50% of CD3+ or CD4+T cells express HLA-DR (at \<4 years of age)
AND/OR are oligoclonal T cells
c.) Hypomorphic mutation in IL2RG in a male, or homozygous hypomorphic mutation or compound heterozygosity with ≥1 hypomorphic mutation in an autosomal SCID-causing gene
d.) Low T Cell Receptor Excision Circles (TRECs) and/or the percentage of CD4+/45RA+/CD31+ or CD4+/45RA+/CD62L+ cells is below the lower limit of normal.
e.) Functional testing in vitro supporting impaired, but not absent, activity of the mutant protein, AND
Does not meet criteria for Omenn Syndrome.
Generalized skin rash
Maternal lymphocytes tested for and not detected;
Note: If maternal engraftment was not assessed and ruled out, the subject is not eligible as Omenn Syndrome.
≥80% of CD3+ or CD4+ T cells are CD45RO+ AND/OR
80% of CD3+ or CD4+T cells are CD62L negative AND/OR
50% of CD3+ or CD4+ T cells express HLA-DR (at \<2 years of age);
Absent or low (\< 30% lower limit of normal) T cell proliferation response to antigens (Candida, tetanus) to which the subject has been exposed
Hepatomegaly
Splenomegaly
Lymphadenopathy
Elevated IgE
Elevated absolute eosinophil count
\*Oligoclonal T cells measured by CDR3 length or flow cytometry
\*Proliferation to PHA is reduced \<50% of lower limit of normal or SI \<30
\*Hypomorphic mutation in a SCID causing gene
Low TRECS and/or the percentage of CD4+/45RA+/CD31+ or CD4+/45RA+/CD62L+ cells is below the lower limit of normal.
Absence or very low number of T cells (CD3 \<300/µL
No or very low (\<10% lower limit of normal) T cell response to PHA
Severe neutropenia (absolute neutrophil count \< 200 /µL) AND
≥2 of the following (a,b,c):
a.) Sensori-neural deafness
b.) Deficiency of marrow granulopoiesis on bone marrow examination
c.) A pathogenic mutation in the adenylate kinase 2 (AK2) gene identified.
ADA Deficient SCID with intention to treat with PEG-ADA ERT
ADA Deficient SCID with intention to treat with gene therapy
X-linked SCID with intention to treat with gene therapy
Any SCID patient previously treated with a thymus transplant (includes intention to treat with HCT, as well as PEG-ADA ERT or gene therapy)
Any SCID patient who received therapy for SCID deemed "non-standard" or "investigational", including in utero procedures.

Exclusion

Presence of an Human Immunodeficiency Virus (HIV) infection (by PCR) or other cause of secondary immunodeficiency
Presence of DiGeorge syndrome
MHC Class I and MHC Class II antigen deficiency, and
Metabolic conditions that imitate SCID or related disorders such as folate transporter deficiency, severe zinc deficiency or transcobalamin deficiency.

What this trial measures

  • Overall Survival (OS) at Month 6 Post HCTMonth 6 Post HCT

    Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID). The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 6 months.

  • Overall Survival (OS) at Year 2 Post HCTYear 2 Post HCT

    Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID). The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 2 years.

  • Overall Survival (OS) at Year 5 Post HCTYear 5 Post HCT

    Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID). The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 5 years.

  • Overall Survival (OS) at Year 8 Post HCTYear 8 Post HCT

    Assess the overall survival (OS) for participants after hematopoietic stem cell transplantation (HCT) for treatment of Severe Combined Immunodeficiency (SCID). The time to this event is the time from HCT to death or last follow-up (whichever occurs first). All participants will be followed for a minimum of 6 months from HCT. Overall survival will be estimated at 8 years.