6907: Severe Combined Immune Deficiency: Prospective and Longitudinal Study of Genotypes, Management and Outcomes
Background
Severe combined immune deficiency (SCID) is a condition in which patients fail to develop a normal complement of T cells as well as functional B cells. Left untreated, these missing critical components of the immune system lead to an increased frequency and severity of infections with a high risk of death early in life. SCID is caused by mutations in a gene responsible for T cell development; there are over twenty known genetic subtypes of SCID. SCID is now commonly diagnosed in the first month of life, often in an asymptomatic state, through newborn screening of heel-stick dried blood spots. SCID may be treated by allogeneic hematopoietic cell transplantation, experimental autologous gene therapy, or (in the case of SCID due to mutations in the ADA gene), enzyme-replacement therapy.
About this Study
Individuals with a possible diagnosis of severe combined immune deficiency (including infants who were identified by newborn screening) may be eligible to be enrolled on the PIDTC research study 6907. Speak to your doctor to determine if you / your child may be eligible. Protocol 6907 follows all patients with SCID, meaning the 6907 study enrolls participants regardless of whether they have already received a blood and marrow transplant (BMT), enzyme replacement therapy (ERT), or gene therapy (GT). Patients are then followed after diagnosis and treatment according to standard of care recommendations, which typically align with a schedule set out by the study protocol. The times the study requests follow up will be the same as when your doctor would want to be seeing you / your child as part of their regular ongoing medical care. Patients with “leaky SCID” (a form of SCID with T cell numbers less severely compromised) and Omenn syndrome are also eligible to participate in 6907. The 6907 research study does NOT dictate how your / your child’s doctors should treat you / your child, as the PIDTC recognizes that there are many complex factors that go into this decision. The decision about how you / your child with SCID will be treated is made by your doctor. The 6907 study simply follows how you / your child do over time. There are no experimental therapies on this study.
6907 has been open since the Fall of 2021 and continues to be open and enrolling patients to the present day. The study plans to enroll approximately 450 patients with SCID. By studying patients prior to and undergoing treatment for SCID, the goal is to learn more about: (1) outcomes from the treatment of SCID in the modern era of medicine (2) what factors lead to the best long-term outcomes, such as best donor, conditioning regimen, timing of transplant, etc. (3) what impact newborn screening and the early diagnosis of SCID has had on the long-term outcomes following BMT or gene therapy. A significant amount of information is also being gathered on how and when the immune system recovers after BMT, quality of life for long-term survivors, and about whether children develop normally after treatment.
6907 is the largest coordinated study of patients with SCID ever performed, and will built on the information learned from the prior two PIDTC SCID studies, 6901 and 6902. Information that we will learn, both now and in the future, will help doctors and other health professionals to better treat children with SCID. All hospitals within the PIDTC are enrolling patients with SCID on 6907, ensuring that the outcomes are reflective of what happens in the “real world” as opposed to at just one or two large centers.
Targeted Enrollment
To be eligible to participate, you / your child must:
- Be an individual with all of the following:
- Have a suspicion of SCID, due to low TRECs. If an alternate diagnosis to SCID is confirmed, the patient will be removed from the study.
- Have a diagnosis of SCID, including:
- Typical SCID
- Leaky SCID
- Omenn syndrome
You are not eligible to participate if:
- A participant should not be in the study if any of the following are present:
- HIV Infection
- DiGeorge syndrome
- Combined Immunodeficiency Disorders
- MHC Class I or II Deficiencies
Total Enrollment: 62
Participating Sites
Alberta Children's Hospital
28 Oki Drive NW
Calgary, Alberta, Canada, T3B 6A8
https://www.albertahealthservices.ca/ach/ach.aspx
Contact:
Victor
Lewis
Alfred I. duPont Hospital for Children/Nemours
1600 Rockland Road
Wilmington, Delaware, United States, 19803
https://www.nemours.org/locations/wilmington-ai-dupont-childrens-hospital.html
Contact:
Emi
Caywood
American Family Children's Hospital
1111 Highland Ave, 4103 WIMR
Madison, Wisconsin, United States, 53705-2275
https://www.uwhealth.org/locations/american-family-childrens-hospital-169
Contact:
Ken
DeSantes
Ann & Robert H. Lurie Children's Hospital of Chicago
225 E Chicago Avenue
Chicago, Illinois, United States, 60611
https://www.luriechildrens.org
Contact:
Sonali
Chaudhury
Baylor College of Medicine/Texas Children's Hospital
1 Baylor Plaza
Houston, Texas, United States, 77030
https://www.bcm.edu/
Contact:
Imelda Celine
Hanson
CHU Sainte - Justine
3175, Chemin de la Côte-Sainte-Catherine
Montréal, Quebec, Canada, H3T 1C5
https://www.chusj.org/Home
Contact:
Elie
Haddad,
MD, PhD
CancerCare Manitoba
675 McDermot Avenue
Winnipeg, Manitoba, Canada, R3E 0V9
https://www.cancercare.mb.ca/home/
Children's Healthcare of Atlanta: AFLAC Cancer Center
1405 Clifton Road NE, 4th Floor, Tower 1
Atlanta, Georgia, United States, 30322
https://www.choa.org
Contact:
Shanmuganathan
Chandrakasan
Children's Hospital Colorado
13123 E 16th Avenue, B115
Aurora, Colorado, United States, 80045
https://www.childrenscolorado.org/locations/anschutz-medical-campus-aurora/
Contact:
Hesham
Eissa
Children's Hospital Los Angeles
4650 Sunset Boulevard
Los Angeles, California, United States, 90027
https://www.chla.org/
Contact:
Neena
Kapoor
Children's Hospital of Philadelphia
3401 Civic Center Boulevard
Philadelphia, Pennsylvania, United States, 19104
https://www.chop.edu/
Contact:
Neil
Romberg
Children's Hospital of Pittsburgh
4401 Penn Avenue
Pittsburgh, Pennsylvania, United States, 15224
https://www.chp.edu
Children's Hospital of Wisconsin
8915 W Connell Court
Milwaukee, Wisconsin, United States, 53226
https://childrenswi.org/location-directory/locations/hospitals/milwaukee-hospital
Contact:
Larisa
Broglie
Children's Hospital/LSUHSC, New Orleans
200 Henry Clay Avenue, Suite 4109
New Orleans, Louisiana, United States, 70118
https://www.chnola.org
Contact:
Ken
Paris
Children's National Medical Center
111 Michigan Ave NW
Washington, District of Columbia, United States, 20010
https://childrensnational.org
Contact:
Blachy Davila
Saldana
Corewell Health
Duke University Medical Center
2301 Erwin Road
Durham, North Carolina, United States, 27710
https://www.dukehealth.org/locations/duke-university-medical-center
Contact:
Rebecca H.
Buckley,
MD
Hackensack University Medical Center
30 Prospect Ave
Hackensack, New Jersey, United States, 07601
https://www.hackensackmeridianhealth.org/
Contact:
Alfred
Gillio
Hospital for Sick Children (SickKids)
555 University Avenue
Toronto, Ontario, Canada, M5G 1X8
https://www.sickkids.ca/
Contact:
Eyal
Grunebaum,
MD
Jackson Memorial Hospital/University of Miami Miller School of Medicine
1580 NW 10th Avenue
Miami, Florida, United States, 33136
https://jacksonhealth.org/locations/jackson-memorial-hospital/
Contact:
David
Crawford
Johns Hopkins All Children's Hospital
601 5th Street South, 3rd Floor
St. Petersburg, Florida, United States, 33701
https://www.jhu.edu/
Contact:
Deepak
Chellapandian
Lucile Packard Children's Hospital Stanford
450 Serra Mall
Stanford, California, United States, 94305
https://www.stanford.edu/
Contact:
Ami
Shah
Maria Fareri Children's Hospital
100 Woods Road
Valhalla, New York, United States, 10595
https://www.mariafarerichildrens.org
Contact:
Edo
Schaefer
Mattel Children's Hospital UCLA
10833 Le Conte Avenue, Room A2-410 MDCC
Los Angeles, California, United States, 90095-1752
https://www.ucla.edu/
Contact:
Theodore
Moore
Mayo Clinic Rochester
200 First Street SW
Rochester, Minnesota, United States, 55905
https://www.mayoclinic.org/patient-visitor-guide/minnesota
Contact:
Anvi
Joshi
Memorial Sloan Kettering Cancer Center
1275 York Avenue
New York, New York, United States, 10065
https://www.mskcc.org/
Contact:
Joseph
Oved
Nationwide Children's Hospital
700 Childrens Drive
Columbus, Ohio, United States, 43205
https://www.nationwidechildrens.org/
Contact:
Peter
Mustillo
peter.mustillo@nationwidechildrens.org
Hemalatha Rangarajan Roshini AbrahamNew York Presbyterian/Columbia University
3959 Broadway
New York, New York, United States, 10032
https://www.nyp.org/locations/newyork-presbyterian-columbia-university-medical-center
Phoenix Children's Hospital: Center for Cancer and Blood Disorders
1919 E Thomas Road
Phoenix, Arizona, United States, 85016
https://appointments.phoenixchildrens.com/Appointments/FindPatient
Contact:
Holly
Miller
Primary Children's Hospital
100 N. Mario Capecchi Drive
Salt Lake City, Utah, United States, 84113
https://www.utah.edu/
Contact:
Ahmad
Rayes
Rady Children's Hospital- San Diego
3020 Children's Way, MC 5035
San Diego, California, United States, 92123
https://www.rchsd.org
Contact:
Eric
Anderson
Riley Hospital for Children/ Indiana University School of Medicine
Seattle Children's Hospital
1100 Fairview Avenue N, Mailstop D1-100
Seattle, Washington, United States, 98109
https://www.seattlechildrens.org/
Contact:
Karin
Chen
karin.chen@seattlechildrens.org
Lauri M. Burroughs, MD Aleksandra Petrovic Eric AllenspachSt. Louis Children’s Hospital/Washington University
1 Brookings Drive
Saint Louis, Missouri, United States, 63130
https://www.stlouischildrens.org
Contact:
Jeffrey
Bednarski
The Children's Hospital of Alabama
ACC 512, 1600 7th Avenue South
Birmingham, Alabama, United States, 35233
https://www.uab.edu/home/
Contact:
Fred
Goldman
UCSF Benioff Children's Hospital - Administrative Core
1975 4th Steet
San Francisco, California, United States, 94158
https://www.ucsf.edu/
Contact:
Jennifer
Puck,
MD
University of Iowa
200 Hawkins Drive
Iowa City, Iowa, United States, 52242
https://uihc.org/
Contact:
Rajat
Sharma
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:
Christen
Ebens
University of Texas Southwestern Medical Center
5323 Harry Hines Boulevard
Dallas, Texas, United States, 75390
https://www.utsouthwestern.edu
Contact:
Victor
Aquino