National Registry of Primary Immunodeficiency Diseases

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National Registry of Primary Immunodeficiency
Diseases
Overview

• Initiated in 1992 with Chronic
• Granulomatous Disease Registry
• Expanded in 1997 to include 7 additional
• Primary Immunodeficiency Diseases
• Renewed in 2003 for additional 5 years

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National Registry of Primary Immunodeficiency
Diseases
Patient Confidentiality

• Registry only surveys/contacts physicians
• Patients registered only by birth date,
• gender, race and initials - no names,
• address, SS, etc.
• Judged to be in compliance with
• HIPAA and has IRB approval

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National Registry of Primary Immunodeficiency
Diseases
Disease Number CGD 385 HIGM (X-linked) 112
(79) CVID 598 XLA 180 WAS 168 SCID 129
DGA 52
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National Registry of Primary Immunodeficiency
Diseases
Goals

• Provide minimal estimate of prevalence
• and define demographics
• Develop comprehensive clinical picture
• Provide resource for collaborative
• clinical, laboratory, and social research
• Improve patient access to new/novel therapies

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National Registry of Primary Immunodeficiency
Diseases
Demographics Birth Rate
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Demographics
Disease Caucasian Asian AA NA CGD
304 6 39 1 XHIGM 49 9 13
0 WAS 83 5 41
2 XLA 120 0 11
0 CVID 481 2 16 1 SCID 51
6 9 27
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National Registry of Primary Immunodeficiency
Diseases
Birth Rates
Disease Birth Rate CGD 1/250,000 X-HIGM 1/1,0
35,000 XLA 1/464,000
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National Registry of Primary Immunodeficiency
Diseases
Comprehensive Clinical Picture (Data obtained
directly from Registry)
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Clinical Survey of Chronic Granulomatous Disease
The autosomal recessive disease is milder than
the X-linked recessive disease
XLR AR Age of diagnosis 3.01 7.81 Perirect
al abscess 17 7 Bacteremia/fungemia 21 10
Gastric obstruction 19 5 Urinary
obstruction 11 3 Mortality 21 8
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Etiology of Pneumonia in
XHIGM Number () of Patients
Organism (n64) Pneumocystis carinii
38 (59) Cytomegalovirus 2 (
3) Adenovirus 1 (
2) Pseudomonas spp 2 (
3) Herpesvirus type I 1 (
2) Respiratory syncytial virus 1 (
2) Histoplasmosis 1 (
2) Pneumococcus 1 (
2) taphylococcus spp. 1 ( 2)
H. influenzae, type b 1 (
2) Unknown 17 (27)
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Age at Development of Symptoms
of Patients
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Age at Diagnosis
of Patients
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Relationship Between Family History and Age of
Diagnosis
Disorder Age Diagnosis Age Diagnosis
with pos fam hx pos fam hx neg
fam hx diagnosed based on
fam hx alone
XLA 2.42 yrs 4.73 yrs
27 XHIGM 0.67 yrs 2.43 yrs
33 SCID 0.14 yrs 2.43 yrs
69
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National Registry of Primary Immunodeficiency
Diseases
Facilitate Collaborative Research
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Use of Registry for Research (Data not in
Registry)

• One page letter requesting use of Registry
• outlining purpose of research, kinds
• of patients needed, and methods of
• research
• Advisory Committee approves
• use of Registry within 10 days
• Investigator receives names, addresses,
• etc of physicians who have suitable
• patients

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Examples of Completed/Published Research

• Polymorphisms of Host Defense Molecules in CGD
• Chanock et al, JCI
• Stem Cell Transplantation In CGD
• Horwitz et al, NEJM
• Hepatitis C in Primary Immunodeficiency
• Cunningham-Rundles, JCI
• Enteroviral Infections in PID
• Webster et al, Infection
• Itraconazole Prevention of Fungal Infections in
  CGD
• Holland et al, NEJM
• Risk for Lymphoma in a Subset of Patients with
  WAS
• Remold-ODonnell et al, Br J Hemat

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National Registry of Primary Immunodeficiency
Diseases

• The Future
• Increase enrollment
• Expand number of diseases
• Establish collaboration with ESID Registry
• Provide web-based entry of patient data
• Provide access to data in Registry on the web
• Regular updating of relevant information
• long term follow-up
• impact of therapies
• assesment of compliance
• collection of new study data

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National Registry of Primary Immunodeficiency
Diseases

• Two Tiers
• Red field only including mutation
• Select group
• Longitudinal entries
• Detailed information
• Elite group of patients
• Centers with specific interest
• Long term follow-up
• Collection of prognostic therapeutic
• information

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US Immune Deficiency Research Network (USIDNET)

• established to advance scientific research in
  the primary immune deficiency diseases...

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US Immunodeficiency Research Network
(USIDNET)

• Primary Immunodeficiency Research Consortium, a
  cooperative group of investigators promoting and
  fostering excellence in primary immune deficiency
  disease research
• DAIT/NIAID Contract awarded 28 SEP 2003
• Monthly Teleconferences
• Third in-person meeting 11 12 October 2004
• Patient and Senior Advisor Panels convened
• Interim meetings at scientific venues

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Organizational Structure USIDNET
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USIDNET CELL/DNA REPOSITORY

• Coriell Institute for Medical Research
• Camden, New Jersey,
  USA

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Construction of Registry
Ascertainment of Physicians

• In 1996 and 2003, one page survey sent to
  physicians
• who were members of 7 professional societies
  
• asking whether they followed any patients
  with
• primary immunodeficiency diseases
• Letter also sent to all Chairpersons of
  Departments
• of Medicine and Pediatrics asking them to forward
• above letter on to person(s) in their department
• who might have suitable patients

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Construction of Registry
Ascertainment of Patients

• Physicians who said they have patients
• sent appropriate 4 page clinical data
• entry (CDE) form requesting identifying
• data, diagnostic tests validating
• diagnosis, family history, clinical data,
• treatment, and current status
• Once received, CDE forms medically edited
• for consistency, validity of diagnosis, etc.
• and entered into relational database