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NCT00027274 · ClinicalTrials.gov registry record

Cancer in Inherited Bone Marrow Failure Syndromes

A clinical trial of Fanconi Anemia and Diamond-Blackfan Anemia, sponsored by National Cancer Institute (NCI).

Recruiting
Registry status
4,000
Enrollment target
2
Study locations

NCT00027274: Recruiting study of Fanconi Anemia and Diamond-Blackfan Anemia, sponsored by National Cancer Institute (NCI).

NCT00027274 is a study of Fanconi Anemia and Diamond-Blackfan Anemia that is actively recruiting participants, run by National Cancer Institute (NCI). The registered enrollment target is 4,000 participants, above the 70-participant average among 15 other Fanconi Anemia trials with a reported enrollment target (5614% higher). The trial reports 2 study locations across 1 state. According to ClinicalTrials.gov, the official US trial registry.

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The verdict

NCT00027274, a study of Fanconi Anemia and Diamond-Blackfan Anemia, is actively recruiting participants, sponsored by National Cancer Institute (NCI).

RECRUITING
Registry status
4,000 participants
Enrollment target
2
Study locations

Study Summary

Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer differ in their genetic and/or environmental features from patients with IBMFS who do not develop cancer. These cancer-prone families are well suited for cancer screening and prevention trials targeting those at increased genetic risk of cancer. Carriers of IBMFS pathogenic variant(s) are at increased risk of cancer. The prototype disorder is Fanconi's Anemia (FA); other IBMFS will also be studied. Objectives: To determine the types and incidence of specific cancers in patients with an IBMFS. To investigate the relevance of IBMFS pathogenic variant(s) in the carcinogenesis pathway of the sporadic counterparts of IBMFS-associated cancers. To identify risk factors for IBMFS-related cancers in addition to the primary germline pathogenic variant(s). To determine the risk of cancer in IBMFS carriers. Eligibility: North American families with a proband with an IBMFS. IBMFS suspected by phenotype, confirmed by pathogenic variant(s) in an IBMFS gene, or by clinical diagnostic test. Fanconi's anemia: birth defects, marrow failure, early onset malignancy; positive chromosome breakage result. Diamond-Blackfan anemia: pure red cell aplasia; elevated red cell adenosine deaminase. Dyskeratosis congenita: dysplastic nails, lacey pigmentation, leukoplakia; marrow failure. Shwachman-Diamond Syndrome: malabsorption; neutropenia. Amegakaryocytic thrombocytopenia: early onset thrombocytopenia. Thrombocytopenia absent radii: absent radii; early onset thrombocytopenia. Severe Congenital Neutropenia: neutropenia, pyogenic infections, bone marrow maturation arrest. Pearson's Syndrome: malabsorption, neutropenia, marrow failure, metabolic acidosis; ringed sideroblasts. Other bone

Primary Outcome

Establish a cohort of families with IBMFS

Study Locations (2)

Maryland

  • National Institutes of Health Clinical Center - Bethesda
  • National Cancer Institute - Shady Grove - Rockville

Trial Details

FieldValue
Enrollment Target 4,000 participants
Start Date 2001-11-28
National Cancer Institute (NCI)

3,257 total trials

What NCT00027274 shows while recruiting

NCT00027274 is an observational study that tracks outcomes without assigning an intervention. Its 4,000 participants enrollment target places it among the larger protocols in the corpus, above the 70-participant average among 15 other Fanconi Anemia trials with a reported enrollment target (5614% higher).

The record links to 5 conditions, with Fanconi Anemia appearing as the primary indexed condition, and to 0 interventions.

NCT00027274 reports a single indexed study location in Maryland.

Frequently Asked Questions

What is clinical trial NCT00027274 about?

NCT00027274 is a clinical study titled "Cancer in Inherited Bone Marrow Failure Syndromes". Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders. Pathogenic variant(s) in IBMFS genes are relevant to carcinogenesis in sporadic cancers. Patients with IBMFS who develop cancer diff...

What is the current status of trial NCT00027274?

This trial is currently recruiting. The enrollment target is 4,000 participants. The study started on 2001-11-28.

What conditions does trial NCT00027274 study?

This clinical trial studies the following conditions: Fanconi Anemia, Diamond-Blackfan Anemia, Dyskeratosis Congenita, Shwachman-Diamond Syndrome, Inherited Bone Marrow Failure Syndrome, Aplastic Anemia.

Who is sponsoring clinical trial NCT00027274?

This trial is sponsored by National Cancer Institute (NCI), which has 3,257 total clinical trials registered on ClinicalTrials.gov.

Where is trial NCT00027274 being conducted?

This trial has 2 study locations across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.

Similar trials for Fanconi Anemia

Matched on the same primary condition, ranked to surface studies in the same phase first, then by recruiting status, no relevance scoring or editorial curation.

Where NCT00027274's enrollment target sits among peer trials

4,000 1st of 15 higher than 15 of 15 other Fanconi Anemia trials

participants (enrollment target), bucketed by value

Each bar is a band; taller bars hold more other Fanconi Anemia trials. The dashed line + filled bar mark this entry. Hover or tap any bar for its full count and share, and where it sits relative to this entry.

Source ClinicalTrials.gov registry export · 2026-08-08

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Source: ClinicalTrials.gov NCT00027274, the US trial registry maintained by the National Library of Medicine. NCT00027274 (large enrollment · single site footprint · recruiting) retrieved and formatted by PlainTrial, see methodology.