FA Family Newsletter - Fanconi Anemia Research Fund

More documents

Recommendations

Info

DNA Testing for FA Before PregnancyScience News From the Family MeetingCertified geneticscounselor Heather Zierhut,MS, gave Camp Sunshineattendees an overview ofpreimplantation geneticdiagnosis (PGD). PGDoffers families the option oftesting for Fanconi anemiaand for human leukocyteantigens status in an earlyembryo before implantation.Readers can consult the October 2010 FA FamilyNewsletter for detailed information on the steps involved inthis process.The Reproductive Genetics Institute of Chicago,Illinois, has helped 17 families at risk for FA to try toexpand their families. These families have gone through51 PGD cycles (average is three per family), resultingin the births of six healthy children. The chance thatany one PGD attempt will result in the birth of a childis 12%. PGD is expensive, averaging approximately$20,000 per cycle. Most insurance companies will notcover PGD.Zierhut discussed the physical and emotionalimplications of undergoing PGD. Interviews with14 women who had undergone PGD elicited bothpositive and negative emotions: women felt in control,empowered and hopeful, but also experienced anxietywhile anticipating results, and extreme distress when acycle failed. It was suggested that couples consider inadvance what they will do with fertilized eggs that arenot needed when the process ends. Zierhut cautionedthat PGD can negatively affect future pregnancies and,on rare occasion, be life-threatening to the mother.Excellent Transplant Outcomes Continue atCharité Hospital, BerlinOver more than a decade,Wolfram Ebell, MD,Charité Children’s Hospital,Berlin, has transplanted27 Fanconi anemiapatients with protocolsusing oral busulfan in acumulative dose of 2 mg/kg instead of radiation inthe conditioning regimen.None of these patientshas experienced organ toxicity clearly attributed tothe busulfan. Dr. Ebell stated that he uses half of thebusulfan dosage currently given in a multi-center, USbasedstudy, which could explain the lack of toxicity.Alternate donor transplants continue to improve atCharité Children’s Hospital (see FA Family Newsletter#49 for information on recent protocols and outcomesat this center). All nine patients with alternate donorson the present protocol, called GEFA03, survive, withonly one experiencing grade 1 graft-versus-host disease.One patient on GEFA03 relapsed with his originalclonal abnormality. This patient was given a mild dose offludarabine, Cytoxan and ARA-C, and a stem cell boostfrom his original donor, and is now disease-free.At his center, Dr. Ebell finds nosurvival difference betweenpatients with matched siblingdonors and those with alternatedonors.Dr. Ebell noted that a large number of FA patients,often with androgen support, do not undergotransplant. This group still survives longer thanpatients who have needed to go to transplant. Withimprovements in transplant outcomes, this couldchange. At his center, Dr. Ebell finds no survivaldifference between patients with matched sibling donorsand those with alternate donors.8 Family Newsletter #50
Minnesota Reports on Transplant OutcomesThe University ofMinnesota AmplatzChildren’s Hospital hastransplanted more than 195Fanconi anemia patientssince 1982, using a seriesof protocols to improvetransplant outcomes.Margaret MacMillan,MD, reported on 40patients with alternatedonors enrolled in the current trial, which has beenopen since 2006. This protocol includes 300 rads oftotal body irradiation, thymic shielding to hastenimmune recovery, Cytoxan, fludarabine and ATGfollowed by either T-cell depleted bone marrow orumbilical cord blood. Survival for the entire groupis 87%; all 14 patients under the age of 10 survive(median follow-up of 32 months). Dr. MacMillan statedthat although the data suggest that children under 10have a better chance of survival than older patients,age itself is not a criterion for coming to transplant.Transfusion history is also associated with survival.All 25 patients under the age of 18 with matched siblingdonors and a chemotherapy only (no irradiation) protocolare alive and well, with no graft-versus-host disease.All 25 patients under the age of 18with matched sibling donors and achemotherapy only (no irradiation)protocol are alive and well, with nograft-versus-host disease.The University of Minnesota also transplanted eighthigh-risk patients using a busulfan-based protocol. Sevenof these patients had leukemia. Patients experienced highlevels of toxicity; four patients survive. This protocol isnow open only for patients in the FANCD1/BRCA2complementation group or for patients who cannottolerate TBI.Dr. MacMillan announced plans for a new trial in thenear future. This trial will reduce the length of time apatient is on an immunosuppressant post-transplant in aneffort to reduce the risk for life-threatening infections.Testing Service for FA PatientsScience News From the Family MeetingTesting for PotentiallyBeneficial Cancer TherapyThe Knight Diagnostic Laboratories at Oregon Health& Science University have recently made availablenew molecular tumor tissue tests that are designed toidentify potential treatment targets in cancer and topredict the likelihood of benefit for patients treatedwith the latest therapeutics.This new testing will be available atNO CHARGE to FA patients.For more information, contact:Teresa Kennedy, Director of Family Support ServicesFanconi Anemia Research Fund, Inc.Phone: 541-687-4658 or1-888-FANCONI (888-326-2664)Email: teresa@fanconi.orgSend samples to:Christopher Corless, MD, PhD, Medical DirectorOHSU Dept. of Pathology (mailcode L113)3181 SW Sam Jackson Park RoadPortland, OR 97239Phone: 503-494-6834Email: corlessc@ohsu.eduFamily Newsletter #50 9
Page 3 and 4: Early Gynecological Care is Essenti
Page 5 and 6: Plans Under Way to Study FA Parenta
Page 7: Psychological/Social Issues Affect
Page 11 and 12: Living with Fanconi AnemiaBy Mary G
Page 13 and 14: A FANTABULOUS Experience for FA Fam
Page 15 and 16: The Sum of All Fears: A Single Mom
Page 17 and 18: Kids from FA Families Pitch in to R
Page 19 and 20: Everything Old is New AgainBy Jeann
Page 21 and 22: Door to Door SuccessJack Timperley,
Page 23 and 24: Researchers and Clinicians to Conve

FA Family Newsletter - Fanconi Anemia Research Fund

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?