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Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

Expanded access is currently available for this treatment.
Verified November 2013 by Chinese Academy of Medical Sciences
Information provided by (Responsible Party):
Xiaofan Zhu, Chinese Academy of Medical Sciences Identifier:
First received: November 21, 2013
Last updated: NA
Last verified: November 2013
History: No changes posted
Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases. The cells of FA patients are extremely sensitive to MMC and DEB. The symptoms and ages of FA patients are different, so by comparing the exome of FA patients and their parents, the mutations that were accumulated in FA patients could be found, and these genes might be sensitive to repairment and be important for hematopoiesis maintainance.

Condition Intervention
Fanconi Anemia
Autosomal or Sex Linked Recessive Genetic Disease
Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.
Hematopoiesis Maintainance.
Genetic: human whole exome
Genetic: whole genomic

Study Type: Expanded Access     What is Expanded Access?
Official Title: Exome Sequencing of Fanconi Anemia Children and the Their Parents

Resource links provided by NLM:

Further study details as provided by Chinese Academy of Medical Sciences:

Intervention Details:
    Genetic: human whole exome
    he exome is the part of the genome formed by exons, coding portions of genes in the genome that are used in the synthesis of proteins, therefore, it is most likely to contribute to the phenotype of an organism. The exome of the human genome, is estimated to comprise 1.5% of the total genome (The human exome is about 30 MB).
    Genetic: whole genomic
    This study propose to find the genes that are sensitive to DNA crosslink repair, and genes that have key roles in hematopoietic cell development and maturation.
    Other Name: whole exome
Detailed Description:

Heterogeneity of FA. In the research of animal model, the phenotypes of FANCA, FANCC and FANCG knockout mice are similar. They grow up and develop normally, without any severe blood disease or tumor. However, they show chromosome instablity and highly sensitivity to MMC. And they have gonadal dysfunction and fertility defects. From this we conclude that the severe physical deformity of FA patients might be induced by other mutations. By comparing among the FA patients and between FA patiens and normal people, we look forward to find the mutated genes and verify their relationship with the physical deformity.

Even in 90% of FA patients the bone marrow failure will eventually occur, but the starting age ranges from 8-84. And Immuno-inhibition therapy has no effects on FA. Other DNA repair dysfunction diseases have higher rate of tumor, but not so high rate of bone marrow failure as FA does, which implies that the FA protein has the key role in hematopoietic stem cell maintainance. In FancC-/- mice, young mice is insensitive to DNA crosslinks with comet assay, but not adult mice, indicating that the accumulation of DNA damage during time leads to DNA repairment defects. by comparing the exome of FA patients and their parents, the mutations that were accumulated in FA patients could be found, and these genes might be sensitive to repairment and be important for hematopoiesis maintainance.


Ages Eligible for Study:   1 Month to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All

Inclusion Criteria:

All the children that are diagnosed to be FA patients at the Blood Disease Hospital between 08/01/2010 - 07/31/2011, will be asked to participated in this study after acquiring the consent.

Exclusion Criteria:

Can not acquiring content

  Contacts and Locations
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Please refer to this study by its identifier: NCT01995305

Contact: Xiaofan Zhu, professor +86-022-23909001
Contact: Huimin Zeng, doctor +86-022-23909197

China, Tianjin
Institute of Hematology & Blood Diseases Hospital
Tianjin, Tianjin, China, 300020
Contact: Xiaofan Zhu, professor    +86-022-23909001   
Principal Investigator: Xiaofan Zhu, professor         
Sponsors and Collaborators
Xiaofan Zhu
Principal Investigator: Tao Cheng, professor Institute of Hematology & Blood Diseases Hospital
  More Information

Responsible Party: Xiaofan Zhu, Professor, Chinese Academy of Medical Sciences Identifier: NCT01995305     History of Changes
Other Study ID Numbers: pumc001
zhm001 ( Other Identifier: pumc )
Study First Received: November 21, 2013
Last Updated: November 21, 2013

Keywords provided by Chinese Academy of Medical Sciences:
fanconi anemia
hematopoiesis maintainance

Additional relevant MeSH terms:
Disease Susceptibility
Fanconi Anemia
Fanconi Syndrome
Congenital Abnormalities
Abnormalities, Multiple
Hematologic Diseases
Disease Attributes
Pathologic Processes
Anemia, Hypoplastic, Congenital
Anemia, Aplastic
Bone Marrow Diseases
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Metabolism, Inborn Errors processed this record on May 22, 2017