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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.

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.
Recruiting

Total Enrollment: 355

Participating Sites

28 Oki Drive NW
Calgary, Alberta, Canada, T3B 6A8
https://www.albertahealthservices.ca/ach/ach.aspx


Contact:
Transplanter: Victor Lewis

victor.lewis@ahs.ca


Immunologist: Nicola Wright

nicola.wright@ahs.ca

1600 Rockland Road
Wilmington, Delaware, United States, 19803
https://www.nemours.org/locations/wilmington-ai-dupont-childrens-hospital.html


Contact:
Transplanter: Emi Caywood

emi.caywood@nemours.org


Immunologist: Gretchen Harmon

gretchen.harmon@nemours.org

225 E Chicago Avenue
Chicago, Illinois, United States, 60611
https://www.luriechildrens.org


Contact:
Transplanter: Sonali Chaudhury

schaudhury@luriechildrens.org


Immunologist: Aisha Ahmed

aiahmed@luriechildrens.org

1 Baylor Plaza
Houston, Texas, United States, 77030
https://www.bcm.edu/


Contact:
Immunologist: Imelda Celine Hanson

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

malika_kapadia@dfci.harvard.edu

1465 S Grand Boulevard
Saint Louis, Missouri, United States, 63104
https://www.ssmhealth.com/locations/cardinal-glennon-childrens-hospital

4500 Oak Street
Vancouver, British Columbia, Canada, V6H 3N1
http://www.bcwomens.ca/


Contact:
Immunologist: Stuart Turvey

sturvey@cfri.ca


Immunologist: Jacob Rozmus

jrozmus@cw.bc.ca

1405 Clifton Road NE, 4th Floor, Tower 1
Atlanta, Georgia, United States, 30322
https://www.choa.org


Contact:
Immunologist: Lisa Kobrynski

lkobryn@emory.edu


Transplanter: Shanmuganathan Chandrakasan

shanmuganathan.chandrakasan@emory.edu


Transplanter: Suhag Parikh

suhag.parikh@emory.edu


Immunologist: Niraj Patel

niraj.patel@choa.org

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

christopher.mckinney@childrenscolorado.org

4650 Sunset Boulevard
Los Angeles, California, United States, 90027
https://www.chla.org/


Contact:
Transplanter: Neena Kapoor

nkapoor@chla.usc.edu


Immunologist: Neema Izadi

8915 W Connell Court
Milwaukee, Wisconsin, United States, 53226
https://childrenswi.org/location-directory/locations/hospitals/milwaukee-hospital


Contact:
Immunologist: John M. Routes

jroutes@mcw.edu


Transplanter: Larisa Broglie

lbroglie@mcw.edu

200 Henry Clay Avenue, Suite 4109
New Orleans, Louisiana, United States, 70118
https://www.chnola.org


Contact:
Transplanter: Lolie Yu

lyu@lsuhsc.edu


Immunologist: Ken Paris

kparis@lsuhsc.edu


Transplanter: Zachary Louis LeBlanc

zlebla@lsuhsc.edu


Immunologist: Luke Wall

lwall@lsuhsc.edu

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

mkeller@childrensnational.org


Immunologist: Vanessa Bundy

vbundy2@childrensnational.org

3333 Burnett Avenue
Cincinnati, Ohio, United States, 45229
https://www.cincinnatichildrens.org/


Contact:
Transplanter w/ Immunology focus: Jack Bleesing

jack.bleesing@cchmc.org


Transplanter w/ Immunology focus: Rebecca Marsh

rebecca.marsh@cchmc.org


Transplanter w/ Immunology focus: Sharat Chandra

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

buckl003@mc.duke.edu


Immunologist: Talal Mousallem

talal.mousallem@duke.edu


Transplanter: Vinod Prasad

vinod.prasad@duke.edu

555 University Avenue
Toronto, Ontario, Canada, M5G 1X8
https://www.sickkids.ca/


Contact:
Immunologist: Eyal Grunebaum, MD

601 5th Street South, 3rd Floor
St. Petersburg, Florida, United States, 33701
https://www.jhu.edu/


Contact:
Transplanter: Deepak Chellapandian

dchella2@jhmi.edu


Immunologist: Jolan Walter

jolanwalter@usf.edu

100 Woods Road
Valhalla, New York, United States, 10595
https://www.mariafarerichildrens.org


Contact:
Transplanter: Mitchell S. Cairo, MD

mitchell_cairo@nymc.edu


Immunologist: Subhadra Siegel

subhadra_siegel@cwpw.org

200 First Street SW
Rochester, Minnesota, United States, 55905
https://www.mayoclinic.org/patient-visitor-guide/minnesota


Contact:
Immunologist: Anvi Joshi

joshi.anvi@mayo.edu

1275 York Avenue
New York, New York, United States, 10065
https://www.mskcc.org/


Contact:
Transplanter/ Immunologist: Joseph Oved

ovedj@mskcc.org

5601 Fishers Lane, MSC 9806
Bethesda, Maryland, United States, 20892
https://www.niaid.nih.gov/


Contact:
Immunologist: Harry Malech, MD

+1 301 480 6916

hmalech@mail.nih.gov


Transplanter: Elizabeth M. Kang, MD

+1 301 402 7567

ekang@mail.nih.gov


Transplanter: Sung-Yun Pai

sung-yun.pai@nih.gov

3181 S.W. Sam Jackson Park Road
Portland, Oregon, United States, 97239-3098
https://www.ohsu.edu


Contact:
Transplanter: Evan Shereck

shereck@ohsu.edu


Immunologist: Tyler Yates

yatesty@ohsu.edu

1919 E Thomas Road
Phoenix, Arizona, United States, 85016
https://appointments.phoenixchildrens.com/Appointments/FindPatient


Contact:
Transplanter: Roberta H. Adams

adams.roberta@mayo.edu


Transplanter w/ Immunology focus: Holly Miller

hmiller2@phoenixchildrens.com


Immunologist: Keith Sacco

100 N. Mario Capecchi Drive
Salt Lake City, Utah, United States, 84113
https://www.utah.edu/


Contact:
Transplanter/ Immunologist: Ahmad Rayes

ahmad.rayes@hsc.utah.edu


Transplanter: Erin Morales


Transplanter/ Immunologist: Michael Pulsipher

michael.pulsipher@hci.utah.edu

1100 Fairview Avenue N, Mailstop D1-100
Seattle, Washington, United States, 98109
https://www.seattlechildrens.org/


Contact:
Transplanter: Lauri M. Burroughs, MD

lburroug@fhcrc.org


Transplanter: Aleksandra Petrovic

aleksandra.petrovic@seattlechildrens.org


Immunologist: Eric Allenspach

eric.allenspach@seattlechildrens.org


Immunologist: Karin Chen

karin.chen@seattlechildrens.org

262 Danny Thomas Place
Memphis, Tennessee, United States, 38105
https://www.stjude.org/


Contact:
Transplanter: Ewelina Mamcarz

ewelina.mamcarz@stjude.org


Immunologist: Jay Lieberman

jliber1@uthsc.edu

500 S State Street
Ann Arbor, Michigan, United States, 48109
https://www.uofmhealth.org


Contact:
Transplanter: Gregory Yanik

gyanik@umich.edu


Transplanter/ Immunologist: Mark Vander Lugt

marvande@med.umich.edu

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

geoff_weinberg@urmc.rochester.edu