Background:
Severe Combined Immunodeficiency (SCID) is a disorder characterized by the lack of a normal immune system, which can result in life threatening infections in infancy. Previously, patients were diagnosed after developing serious infection. Newborn screening for SCID is now available in all states and is allowing for the diagnosis of SCID before patients develop serious infections.
It has long been recognized that patients with SCID have increased frequencies of neurodevelopmental (ND) problems, including overall delays in thinking, and slower acquisition of motor and verbal skills that can affect school performance. These deficiencies may be due to a) severe infections (including meningitis and pneumonia) b) prolonged malnutrition and c) hospitalization during diagnosis and treatment.
This study aims to evaluate patients with SCID to understand the ND problems following either bone marrow transplantation (BMT) also called hematopoietic cell transplantation (HCT) or gene therapy to determine if ND will be reduced in patients who are diagnosed via newborn screening compared to those diagnosed following an infection. ND outcomes also may be compromised by exposure to high dose alkylator chemotherapy used to condition patients prior to definitive therapy with HCT. However, conditioning regimens have been shown to enhance immune reconstitution and thus may be associated with better ND outcomes. It is essential to determine whether such treatments improve or worsen outcomes. Understanding ND problems in this population of patients is critical for guiding clinicians to determine the best treatment strategy for treating patients with SCID.
This study is being done in consortium with the Primary Immune Diseases Treatment Consortium (PIDTC). The PIDTC has a unique ability of having a large number of centers with a variety of treatment regimens (fully myeloablative vs reduced intensity vs. no conditioning) and enough numbers to study the neurodevelopmental outcomes in a large cohort of patients with SCID.
About This Study
Investigators will identify subjects who meet the inclusion criteria which are all living subjects from the prospective study (PIDTC 6901) and retrospective study (PIDTC 6902) who are at least 5 years after treatment, which would be those patients treated with a definitive therapy (HCT or gene therapy) between the ages of 6-16 years of age. Most of these patients would have been transplanted between 2005 and 2016. Patients and families must be able to speak and read English, Spanish or French. The tests are not available for those in other languages.
Patients will have a one time visit to have their neurocognitive tests performed. Study tests to be performed are validated tests that can be completed within 3 hours. In addition, quality of life studies will be done for all patients and parents will have parent proxy studies done.
Targeted Enrollment
- All living subjects from the prospective study (PIDTC 6901) and retrospective study (PIDTC 6902) who are at least 5 years after treatment, which would be those patients treated with a definitive therapy (HCT or gene therapy) between the ages of 6-16 years of age.
- Patients and families must be able to speak and read English, Spanish or French. The tests are not available for those in other languages.
- Parents / Legal guardian are able to sign the informed consent
Exclusion Criteria:
- Patients who are < 6 years of age and > 16 years of age
- Patients whose primary language is not English, Spanish or French
- Patients that have a primary neurodevelopmental disability not related to
Participating Sites
Alberta Children's Hospital
28 Oki Drive NW
Calgary, Alberta, Canada, T3B 6A8
https://www.albertahealthservices.ca/ach/ach.aspx
Contact:
Transplanter:
Victor
Lewis
Immunologist: Nicola Wright
Ann & Robert H. Lurie Children's Hospital of Chicago
225 E Chicago Avenue
Chicago, Illinois, United States, 60611
https://www.luriechildrens.org
Contact:
Transplanter:
Sonali
Chaudhury
Immunologist: Aisha Ahmed
Baylor College of Medicine/Texas Children's Hospital
1 Baylor Plaza
Houston, Texas, United States, 77030
https://www.bcm.edu/
Contact:
Immunologist:
Imelda Celine
Hanson
Boston Children's Hospital
300 Longwood Avenue
Boston, Massachusetts, United States, 02115
https://www.childrenshospital.org/
Contact:
Immunologist:
Craig
Platt
craig.platt@childrens.harvard.edu
Transplanter: Susan Prockop
susan.prockop@childrens.harvard.edu
Transplanter: Malika Kapadia
Children's Hospital Colorado
13123 E 16th Avenue, B115
Aurora, Colorado, United States, 80045
https://www.childrenscolorado.org/locations/anschutz-medical-campus-aurora/
Contact:
Transplanter:
Hesham
Eissa
hesham.eissa@childrenscolorado.org
Transplanter: Christopher McKinney
Children's Hospital Los Angeles
4650 Sunset Boulevard
Los Angeles, California, United States, 90027
https://www.chla.org/
Contact:
Transplanter:
Neena
Kapoor
Immunologist: Neema Izadi
Children's Hospital of Philadelphia
3401 Civic Center Boulevard
Philadelphia, Pennsylvania, United States, 19104
https://www.chop.edu/
Contact:
Transplanter:
Nancy
Bunin
Transplanter: Caitlin Elgarten
Transplanter: Tim Olsen
Transplanter: Anne Wohlschlaeger
Immunologist: Elisa Ochfeld
Immunologist: Jennifer Heimall
Immunologist: Sarah Henrickson
Immunologist: Soma Jyonouchi
Immunologist: Kathleen Sullivan
Immunologist: Neil Romberg
Cincinnati Children's Hospital Medical Center
3333 Burnett Avenue
Cincinnati, Ohio, United States, 45229
https://www.cincinnatichildrens.org/
Contact:
Transplanter w/ Immunology focus:
Jack
Bleesing
Transplanter w/ Immunology focus: Rebecca Marsh
Transplanter w/ Immunology focus: Sharat Chandra
Hackensack University Medical Center
30 Prospect Ave
Hackensack, New Jersey, United States, 07601
https://www.hackensackmeridianhealth.org/
Contact:
Transplanter/Immunologist:
Alfred
Gillio
Johns Hopkins All Children's Hospital
601 5th Street South, 3rd Floor
St. Petersburg, Florida, United States, 33701
https://www.jhu.edu/
Contact:
Transplanter:
Deepak
Chellapandian
Immunologist: Jolan Walter
Lucile Packard Children's Hospital Stanford
450 Serra Mall
Stanford, California, United States, 94305
https://www.stanford.edu/
Contact:
Transplanter:
Ami
Shah
Immunologist: Rosa Bacchetta
Memorial Sloan Kettering Cancer Center
1275 York Avenue
New York, New York, United States, 10065
https://www.mskcc.org/
Contact:
Transplanter/Immunologist:
Joseph
Oved
Primary Children's Hospital
100 N. Mario Capecchi Drive
Salt Lake City, Utah, United States, 84113
https://www.utah.edu/
Contact:
Transplanter/Immunologist:
Ahmad
Rayes
Transplanter: Erin Morales
Transplanter/Immunologist: Michael Pulsipher
Seattle Children's Hospital
1100 Fairview Avenue N, Mailstop D1-100
Seattle, Washington, United States, 98109
https://www.seattlechildrens.org/
Contact:
Transplanter:
Lauri M.
Burroughs,
MD
Transplanter: Aleksandra Petrovic
aleksandra.petrovic@seattlechildrens.org
Immunologist: Eric Allenspach
eric.allenspach@seattlechildrens.org
Immunologist: Karin Chen
St. Louis Children’s Hospital/Washington University
1 Brookings Drive
Saint Louis, Missouri, United States, 63130
https://www.stlouischildrens.org
Contact:
Transplanter:
Jeffrey
Bednarski
Immunologist: Megan Cooper
The Children's Hospital of Alabama
ACC 512, 1600 7th Avenue South
Birmingham, Alabama, United States, 35233
https://www.uab.edu/home/
Contact:
Transplanter:
Fred
Goldman
Immunologist: Prescott Atkinson
UCSF Benioff Children's Hospital - Administrative Core
1975 4th Steet
San Francisco, California, United States, 94158
https://www.ucsf.edu/
Contact:
Immunologist:
Jennifer
Puck,
MD
Transplanter: Christopher C. Dvorak, MD
University of Michigan Health System
500 S State Street
Ann Arbor, Michigan, United States, 48109
https://www.uofmhealth.org
Contact:
Transplanter:
Gregory
Yanik
Transplanter/Immunologist: Mark Vander Lugt
University of Minnesota Masonic Children's Hospital: Pediatric Blood and Marrow Transplant
420 Delaware Street SE, MMC 484
Minneapolis, Minnesota, United States, 55455
https://twin-cities.umn.edu/
Contact:
Transplanter:
Christen
Ebens