Fanconi AnemiaNCT01995305
Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
A study testing human whole exome and whole genomic in people with Fanconi Anemia and Autosomal or Sex Linked Recessive Genetic Disease, run by Xiaofan Zhu at 1 site in China.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 1 month to 18 years
- Conditions the study is for
- Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease, Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.
- What is being tested?
- human whole exome and whole genomic
- How many people
- Not given
- Where
- 1 siteChina
- Study dates
- Start not givento not given
- Phase
- Expanded access
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 18 years
- All sexes
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- Can not acquiring content
Trial locations and contacts
1 site in 1 country.
China1 site
- Available
Institute of Hematology & Blood Diseases Hospital
Tianjin, Tianjin Municipality, 300020
Xiaofan Zhu, professor, +86-022-23909001, zhuxiaof@yahoo.com.cn
Xiaofan Zhu, professor
About this study
Official title: Exome Sequencing of Fanconi Anemia Children and the Their Parents
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.
Read the 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.
- Conditions
- Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease, Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases., Hematopoiesis Maintainance.
- Being tested
- human whole exome, whole genomic
- Keywords
- fanconi anemia, hematopoiesis maintainance
- Medical subject headings
- Fanconi Anemia, Abnormalities, Multiple
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
human whole exomeGenetic
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).
whole genomicGenetic
Also called whole exome
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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Nov 2013 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fanconi AnemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Expanded access
Sponsor and investigators
- Lead sponsor
- Xiaofan Zhu
- Responsible party
- Sponsor-investigator, Xiaofan Zhu, Chinese Academy of Medical Sciences
- Investigators
- Tao Cheng, professor, Principal investigator, Institute of Hematology & Blood Diseases Hospital, China
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01995305
- Sponsor's protocol ID
- pumc001
- Other IDs
- zhm001
- Status last verified
- Nov 2013
- First submitted
- 21 Nov 2013
- Last updated
- 26 Nov 2013
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Nov 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exome Sequencing of Fanconi Anemia Children and the Their Parents
- ClinicalTrials.gov ID
- NCT01995305
- Acronym / sponsor ID
- pumc001
- Conditions
- Fanconi Anemia, Autosomal or Sex Linked Recessive Genetic Disease, Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases., Hematopoiesis Maintainance.
- Keywords
- fanconi anemia, hematopoiesis maintainance
- Study type
- Expanded access
- Recruitment status
- Available
- Lead sponsor
- Xiaofan Zhu
- First posted
- 26 Nov 2013 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
Who may qualify
- Ages
- 1 month to 18 years
- Sex
- All
- Age groups
- Child, Adult
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- Can not acquiring content
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| human whole exomehe 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 genomicAlso: whole exomeThis 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. | Genetic | – |
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Nov 2013.
- informatin about this studyLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Tao Cheng, professor principal investigator
Institute of Hematology & Blood Diseases Hospital, China
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing human whole exome and whole genomic in people with Fanconi Anemia and Autosomal or Sex Linked Recessive Genetic Disease, run by Xiaofan Zhu at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 26 Nov 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Xiaofan Zhu, professor (+86-022-23909001, zhuxiaof@yahoo.com.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Nov 2013.