Fanconi Anemisi Olan Bireylerde Kemik İliği Hücresi Gen Aktarımı

Sade dilde özet

Bu çalışma, Fanconi anemisi (Fanconi anemia) olan bireylerde, kemik iliği hücrelerine bir retrovirüs aracılığıyla sağlıklı gen aktarımını amaçlayan bir gen terapisini incelemektedir. Çalışmaya, A tamamlayıcı grup (complementation group A) Fanconi anemisi tanısı olan ve kemik iliği sitogenetiği normal bireyler alınmıştır. Araştırma Faz 1 aşamasında yürütülmüş ve tamamlanmıştır.

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

Faz 1 (Phase 1)

Durum

Tamamlandı

Sponsor

Boston Children's Hospital

Müdahale

Retrovirus Construct

Başlangıç

01.08.2004

Tahmini bitiş

01.10.2007

Ülkeler

United States

İlgili genler

Merkezler

• Cincinnati, United States

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

Inclusion Criteria:

* FA, as determined by a positive test for increased sensitivity to chromosomal breakage with mitomycin C or diepoxybutane
* FA complementation group A, as determined by somatic cell hybrids or molecular characterization; transduction of peripheral blood or bone marrow cells with the complementation group of specific retrovirus used in this study must demonstrate correction of mitomycin C sensitivity or cell cycle arrest
* Weighs at least 7.5 kg
* Normal cytogenetics on bone marrow within 3 months of study entry
* A minimum of 2 x 10(6) CD34+ cells/kg after CD34+ selection of the harvested bone marrow or mobilized peripheral blood product must be available to proceed with thaw (if cryopreserved) and transduction
* Human leukocyte antigen (HLA) typing with initial donor limited search results that indicate a potentially acceptable matched unrelated donor in the National Marrow Donor Program database

Exclusion Criteria:

* Cancer
* Clonal cytogenetic abnormality on bone marrow or peripheral blood karyotype within 3 months of study entry
* Myelodysplastic syndrome based on the FAB classification including:

  1. Refractory anemia with ringed sideroblasts (RARS)
  2. Refractory anemia with excess blasts (RAEB)
  3. RAEB in transformation (RAEB-T)
  4. Chronic myelomonocytic leukemia (CMML) (myelodysplastic changes in greater than two cell lines, refractory anemia alone, or aplastic anemia with dysplastic changes are permitted)
* Positive baseline screening result for both of the following:

  1. Detection of Fanconi A proviral sequences by polymerase chain reaction (PCR) analysis
  2. Detection of replication competent retrovirus by repeat testing by PCR of gibbon ape leukemia virus (GALV) envelope sequence or a positive S+L- assay
* Pregnant or breastfeeding; women of childbearing potential who are enrolled will be advised that the drug may cause birth defects and will be required to use an acceptable form of contraception
* Concurrent enrollment in any other study using an investigational agent, excluding androgens and thyroxine
* Physical or emotional status that would prevent informed consent, protocol compliance, or adequate follow-up with participant or legal guardian
* Participants for whom an acceptable HLA identical matched sibling donor (HLA A, B, DRB1; 6/6 match) has been identified (HLA typing of normal siblings must be documented)