Active clinical trials for "Fanconi Anemia"

Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Cystinosis disease from the blood

Cross-sectional cohort study of participants with HIV with or without protocol-defined Fanconi syndrome (confirmed creatinine clearance [CLcr] decline and evidence of proximal tubulopathy).

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.

This research study is studying identification of de novo Fanconi anemia in younger patients with newly diagnosed acute myeloid leukemia. Studying samples of tissue from patients with cancer in the laboratory may help doctors identify and learn more about biomarkers related to Fanconi anemia in patients with acute myeloid leukemia.

The purpose of this study is to: I. Compare neuroradiological phenotype and cognitive functioning of MCPH patients caused by ASPM mutations already characterized and published (Passemard et al. 2009a) with other MCPH-related patients (patients with MCPH1, WDR62, CDK5RAP2, CEP 152, CENPJ, STIL, or PCNT mutations) II. Describe the neuro-radiological and cognitive phenotype of microcephalic patients suffering from Fanconi anemia, and compared them to subjects with: Fanconi anemia but normal OFC (head circumference) MCPH patients Healthy control subjects Our hypothesis is that mutations in genes responsible of microcephaly impact differentially cortical brain development and functioning

OBJECTIVES: I. Classify renal tubular defects using clinical and biochemical findings in patients with Fanconi syndrome and cystinosis.

Cure Cystinosis International Registry (CCIR) is an online, patient self-identifying registry developed by medical and scientific experts specifically for the cystinosis community. CCIR's sole purpose is to identify people with cystinosis worldwide in an effort to accelerate novel treatments and a cure for cystinosis. CCIR provides a safe and secure platform for: sharing anonymous medical information about cystinosis with researchers, clinicians and patients disseminating information about research opportunities connecting researchers/investigators and prospective participants * Interested cystinosis patients may register themselves with CCIR online at http://www.cystinosisregistry.org. * No personal information is shared outside of CCIR. Individual identities are known only to appropriate CCIR staff. If a participant is matched to a clinical trial, the participant receives a notice from CCIR, after which they can decide whether they wish to contact the study sponsor.