6901: A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders
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 (HCT), experimental autologous gene therapy (GT), or (in the case of SCID due to mutations in the ADA gene) enzyme-replacement therapy as a bridge therapy before HCT or GT.
About this Study
Individuals with a recent / new 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 6901. Speak to your doctor to determine if you / your child may be eligible. Protocol 6901 follows patients with SCID prospectively, meaning the 6901 study enrolls participants where there is a plan to receive a blood and marrow transplant, enzyme therapy, or gene therapy in the future. Patients are then followed according to a schedule set out by the study protocol after the procedure. 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”, reticular dysgenesis, and Omenn syndrome may also be eligible to participate in 6901. The 6901 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 6901 study simply follows how you / your child do over time. There are no experimental therapies on this study.
6901 has been open since August 2010 and continues to be open and enrolling patients to the present day. The study plans to enroll approximately 250 patients with SCID. By studying new patients 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.
6901 is the largest coordinated prospective study of patients with SCID ever performed. 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 6901, 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 diagnosis of SCID, including:
- Typical SCID
- Leaky SCID
- Omenn syndrome
- Reticular Dysgenesis
- Have not yet begun treatment with BMT, ERT, or GT.
- Have a diagnosis of SCID, including:
You are not eligible to participate if:
- A participant should not be in the study if they have not had a standard clinical evaluation to rule out other potential causes of low T cell numbers, or if any of the following are present:
- HIV Infection
- DiGeorge syndrome
- Combined Immunodeficiency Disorders
- MHC Class I or II Deficiencies.
Total Enrollment: 355
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
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:
Transplanter:
Emi
Caywood
Immunologist: Gretchen Harmon
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
Cardinal Glennon Children's Hospital
1465 S Grand Boulevard
Saint Louis, Missouri, United States, 63104
https://www.ssmhealth.com/locations/cardinal-glennon-childrens-hospital
Children's & Women's Health Centre of British Columbia
4500 Oak Street
Vancouver, British Columbia, Canada, V6H 3N1
http://www.bcwomens.ca/
Contact:
Immunologist:
Stuart
Turvey
Immunologist: Jacob Rozmus
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:
Immunologist:
Lisa
Kobrynski
Transplanter: Shanmuganathan Chandrakasan
shanmuganathan.chandrakasan@emory.edu
Transplanter: Suhag Parikh
Immunologist: Niraj Patel
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 Wisconsin
8915 W Connell Court
Milwaukee, Wisconsin, United States, 53226
https://childrenswi.org/location-directory/locations/hospitals/milwaukee-hospital
Contact:
Immunologist:
John M.
Routes
Transplanter: 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:
Transplanter:
Lolie
Yu
Immunologist: Ken Paris
Transplanter: Zachary Louis LeBlanc
Immunologist: Luke Wall
Children's National Medical Center
111 Michigan Ave NW
Washington, District of Columbia, United States, 20010
https://childrensnational.org
Contact:
Transplanter:
Blachy Davila
Saldana
bjdavilas1@childrensnational.org
Immunologist: Michael Keller
Immunologist: Vanessa Bundy
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
Duke University Medical Center
2301 Erwin Road
Durham, North Carolina, United States, 27710
https://www.dukehealth.org/locations/duke-university-medical-center
Contact:
Immunologist:
Rebecca H.
Buckley,
MD
+1 919 684 2922
Immunologist: Talal Mousallem
Transplanter: Vinod Prasad
Hospital for Sick Children (SickKids)
555 University Avenue
Toronto, Ontario, Canada, M5G 1X8
https://www.sickkids.ca/
Contact:
Immunologist:
Eyal
Grunebaum,
MD
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
Maria Fareri Children's Hospital
100 Woods Road
Valhalla, New York, United States, 10595
https://www.mariafarerichildrens.org
Contact:
Transplanter:
Mitchell S.
Cairo,
MD
Immunologist: Subhadra Siegel
Mayo Clinic Rochester
200 First Street SW
Rochester, Minnesota, United States, 55905
https://www.mayoclinic.org/patient-visitor-guide/minnesota
Contact:
Immunologist:
Anvi
Joshi
Memorial Sloan Kettering Cancer Center
1275 York Avenue
New York, New York, United States, 10065
https://www.mskcc.org/
Contact:
Transplanter/ Immunologist:
Joseph
Oved
National Institute of Allergy and Infectious Diseases
5601 Fishers Lane, MSC 9806
Bethesda, Maryland, United States, 20892
https://www.niaid.nih.gov/
Contact:
Immunologist:
Harry
Malech,
MD
+1 301 480 6916
Transplanter: Elizabeth M. Kang, MD
+1 301 402 7567
Transplanter: Sung-Yun Pai
Oregon Health & Science University
3181 S.W. Sam Jackson Park Road
Portland, Oregon, United States, 97239-3098
https://www.ohsu.edu
Contact:
Transplanter:
Evan
Shereck
Immunologist: Tyler Yates
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:
Transplanter:
Roberta H.
Adams
Transplanter w/ Immunology focus: Holly Miller
Immunologist: Keith Sacco
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. Jude Children's Research Hospital
262 Danny Thomas Place
Memphis, Tennessee, United States, 38105
https://www.stjude.org/
Contact:
Transplanter:
Ewelina
Mamcarz
Immunologist: Jay Lieberman
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 Rochester
500 Joseph C. Wilson Boulevard
Rochester, New York, United States, 14627
https://www.rochester.edu/
Contact:
Transplanter:
Jeffrey
Andolina
jeffrey_andolina@urmc.rochester.edu
Immunologist: Katherine Tuttle
katherine_tuttle@urmc.rochester.edu
ID Physician: Geoffrey Weinberg