araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: A Study to Find a Safe Dose of Volasertib Given in Addition to Standard Salvage Chemotherapy in Children (Age 3 Months to Less Than 18 Years) With Acute Myeloid Leukaemia, in Whom Front-line Chemotherapy Failed

Summary: This is an open-label, dose-escalating trial to evaluate the MTD and/or dose to be used for further development by evaluation of DLT in course 1 and the safety of volasertib when added to standard intensive salvage chemotherapy with DNX-FLA in paediatric patients with AML after failure of first-line therapy. Furthermore, data on efficacy and PK/PD of volasertib in paediatric patients with AML when added to standard intensive salvage chemotherapy will be collected.


Eligibility: Inclusion criteria:
  -  Patients 3 months to <18 years of age at the time of informed consent
  -  Patients with AML after failure of the front-line intensive AML therapy
  -  Lansky score at screening >=50 for patients from 3 months to <12 years
  -  Karnofsky score at screening >=50 for patients from 12 to <18 years
  -  Use of highly effective methods of birth-control, if sexually active
  -  Parents/legal guardians and patients have given written informed consent and informed assent suitable for the respective age group
  Exclusion criteria:
  -  Down syndrome
  -  Acute promyelocytic leukaemia and treatment-related AML
  -  QTc prolongation
  -  LVSF <30%
  -  Cardiac disease and/or dysfunction
  -  Active uncontrolled infection
  -  HIV infection, acute or chronic hepatitis
  -  Inadequate lab parameters
  -  Impaired renal function
  -  Pregnancy or nursing
  -  Further exclusion criteria apply

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: Determination of Immune Phenotype in Glioblastoma Patients

Summary: Glioblastoma multiforme (GBM) is the most common primary brain tumor in adults. Despite intensive research efforts and a multimodal management that actually consists of surgery, radiotherapy and chemotherapy with temozolomide, the prognosis is dismal. The aim of the current observational study is to determine immune phenotypes in individual patients with GBM at the time of diagnosis and to correlate tumor size, location (imaging), tumor properties (isocitrate dehydrogenase - 1 (IDH-1), o6-methylguanine-DNA-methyltransferase (MGMT), epidermal growth factor receptor (EGFR) mutation status, etc.) with clinical data, such as progression free and overall survival, Karnofsky index (progression free survival (PFS),overall survival (OS), Karnofsky score( KFS)), with blood immune phenotypes, biomarkers, and immune histochemical results of tumor infiltrating lymphocytes, macrophages, myeloid derived suppressor cells (MDSC), etc.. The different immunological phenotypes could predict a positive response to specific immunological therapeutic strategies and select the individual therapeutic plan for an individual GBM patient.


Eligibility: Inclusion Criteria:
  -  adult glioblastoma multiforme
  Exclusion Criteria:
  -  pregnancy, unable to give consent

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: Haploidentical Hematopoietic Stem Cell Transplantation for Acute Leukemias

Summary: This is a prospective observational cohort study of haploidentical transplantation with post-transplant cyclophosphamide for acute leukemias using reduced intensity conditioning for acute myeloid leukemia (AML) and myeloablative conditioning for acute lymphoblastic leukemia (ALL).

Detailed description: Hematopoietic stem cell transplantation (HSCT) is the most effective treatment for acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), with the lowest rates of relapse.
  Fertility rate in Brazil is falling, and only 25% of people born today will have a matched sibling donor. On the other hand, currently donor non-related to about 50% of patients enrolled in Brazilian Receptor Registry (REREME). Consequently, at least 35% of patients won't have a matched donor.
  The haploidentical transplantation is defined as a partially matched hematopoietic cell transplantation, using a partially matched family donor (parent, sibling or child). Haploidentical transplantation activity is growing worldwide, with results comparable matched unrelated donors.
  The objective of this study is to test the feasibility of haploidentical transplantation with post transplant cyclophosphamide for acute leukemias in a Brazil.

Eligibility: Inclusion Criteria:
  -  Acute lymphoblastic leukemia or acute myeloid leukemia
  Exclusion Criteria:
  -  Severe comorbidities
  -  Second transplant

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: A Dose Finding Study of IDH305 With Standard of Care in IDH1 Mutant Acute Myeloid Leukemia

Summary: The purpose of this study is to evaluate the safety, tolerability and potential efficacy of IDH305 with standard treatments for newly diagnosed IDH1R132 mutant acute myeloid leukemia (AML).


Eligibility: Inclusion Criteria:
  -- Previously untreated AML. Patients with untreated, high or very high risk MDS (according to rIPSS or equivalent) are also permitted in Arm 2.
  -  Documentation of IDH1R132 mutation of tumor
  -  ECOG performance status ≤ 2
  -  Clinically fit for standard of care medication per protocol.
  Exclusion Criteria:
  -  Prior treatment for AML or MDS
  -  Any severe or uncontrolled medical conditions that would prevent the patient's participation in the clinical study due to safety concerns or compliance with clinical study procedures such as the presence of other clinically significant cardiac, respiratory, gastrointestinal, renal, hepatic or neurological disease.
  -  Acute Promyelocytic Leukemia
  -  Women who are pregnant or lactating
  Other protocol-defined Inclusion/Exclusion may apply

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: Microtransplantation in Older Patients With Acute Myeloid Leukemia

Summary: The purpose of this study is to see whether HLA-mismatched donor cells infusion with chemotherapy (microtransplantation，MST) could increase complete remission (CR) and improve survival in older patients with acute myeloid leukemia (AML)，the investigators conducted a prospective, multicenter clinical trial of HLA-mismatched MST to estimate outcomes and toxicities.


Eligibility: Inclusion Criteria:
  -  de novo acute myeloid leukemia
  -  age 60-90
  -  have HLA mismatched donor
  Exclusion Criteria:
  -  have no suitable donor or donor refused
  -  patient refused to accept donor cells

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: Optimal Treatment Strategy Based on for Pediatric AML

Summary: The purpose of this study is to optimize therapy according to the known risk factors and treatment response in pediatric acute myeloid leukemia (AML)

Detailed description: I. Risk group assessment Favorable prognosis group: Low risk features + Good response
  Intermediate prognosis group:
  1. Low risk features + Delayed response-1
  2. Standard risk features + Good response
  3. Standard risk features + Delayed response-1
  Poor prognosis group:
  1. Any high risk features irrespective of treatment response
  2. Any delayed response-2 irrespective of risk features
  3. Any refractory state irrespective of risk features
  4. Any early relapse
  II. Chemotherapy Induction-1: Cytarabine + idarubicin Induction-2: High dose (HD) cytarabine + mitoxantrone Consolidation-1: Cytarabine + idarubicin Consolidation-2: HD cytarabine + etoposide Consolidation-3: HD cytarabine + mitoxantrone Consolidation-4: HD cytarabine + etoposide
  III. Allogeneic hematopoietic stem cell transplantation (HSCT) Favorable prognosis group: chemotherapy only Intermediate prognosis group: chemotherapy or HSCT with reduced intensity conditioning Poor prognosis group: HSCT with myeloablative conditioning

Eligibility: Inclusion Criteria:
  -  Patients who were newly diagnosed with de novo AML
  -  Patients who had recurrent cytogenetic abnormalities of AML even though the bone marrow blast percent is lower than 20%
  Exclusion Criteria:
  -  Acute promyelocytic leukemia
  -  Down syndrome AML
  -  Therapy-related AML
  -  AML developed from myelodysplastic syndrome or other marrow failure syndrome
  -  Isolated myeloid sarcoma without bone marrow involvement
  -  Patients who cannot undergo chemotherapy as scheduled due to serious complications at diagnosis

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: Shotgun Sequencing in Diagnosing Febrile Neutropenia in Patients With Acute Myeloid Leukemia

Summary: This research trial studies the shotgun sequencing of blood samples in diagnosing febrile neutropenia in patients with acute myeloid leukemia. Studying samples of blood from patients with acute myeloid leukemia in the laboratory may help identify pathogens and accurately diagnose infections such as febrile neutropenia.

Detailed description: PRIMARY OBJECTIVES:
  I. To test the hypothesis that shotgun metagenomics is not inferior to standard of care diagnostics in the detection of pathogens in patients with febrile neutropenia.
  SECONDARY OBJECTIVES:
  I. To establish a microbiological diagnosis with known or unknown pathogens in patients in whom standard care failed to yield a pathogenic diagnosis.
  OUTLINE:
  Patients undergo collection of blood samples before and during the episode of febrile neutropenia for up to 6 weeks.

Eligibility: Inclusion Criteria:
  -  Patients with febrile neutropenia
  -  A primary diagnosis of acute myeloid leukemia (AML)
  Exclusion Criteria:
  -  Prior history of febrile neutropenia

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: Molecular Characterization of Acute Erythroid Leukemia (M6-AML) Using Targeted Next-generation Sequencing

Summary: Acute erythroid leukemia (AEL) is a morphologically distinct, infrequent (o5%) acute myeloid leukemia (AML) designed as M6 in the French- American-British (FAB) classification. The World Health Organization classification recognizes two subclasses, M6a, a leukemia with myeloid blast cells, and M6b, a very rare, purely erythroid AML. It may be difficult to distinguish between a myelodysplastic syndrome and AEL because of the erythroblastic proliferation, which is increased when dysplasia is present. No recurrent cytogenetic abnormality is specific of AEL and the prognosis is poor with a median survival of 17 months. A study of 14 genes in a series of 92 cases has shown that mutations are frequent in AEL and somewhat differ from the other AMLs by the lower and higher proportion of FLT3-ITD and TP53 mutations, respectively. Only three cases of AEL are reported in the TCGA database. To further characterize AEL, determine whether it constitutes a distinct class of AML and document the reasons for its poor prognosis, the investigators will search for molecular alterations in 40 M6a-AMLs using array comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) of 106 genes known or suspected to have a role in myeloid malignancies or in erythrocyte differentiation.


Eligibility: Inclusion Criteria:
  -  Age>18 year
  -  Diagnosis of AML6
  -  Written consent obtained
  Exclusion Criteria:
  -  No written consent
  -  No frozen samples

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: Invasives Aspergillosis in Acute Myeloid Leukemia

Summary: Patients with acute myeloid leukemia (AML) are at risk to develop severe infections whose invasive aspergillosis (IA). These infections are leading to an important morbidity and mortality. Antifungal prophylaxis is recommended by posaconazole for AML patients during neutropenia induced by induction chemotherapy. Their application is not uniform.

Detailed description: Invasive aspergillosis are frequent infections in hematological malignancy in particular during neutropenia induced by chemotherapy. Their incidence ranged between 5 to 25% according to the literature. Mortality may reach 30%. Our study described IA incidence in AML patients treated by intensive chemotherapy depending on antifungal prophylaxis by posaconazole. From 2009 to 2011, any patients received antifungal prophylaxis. From 2012 to 2015, patients received posaconazole during induction and salvage chemotherapy. During the all study period, efficacy of posaconazole is evaluated according to construction/demolition periods in hospital. All patients are hospitalized in High Efficiency Particulate Air (HEPA) filtration system.

Eligibility: Inclusion Criteria:
  -  > 18 years
  -  acute myeloid leukemia
  -  intensive chemotherapy (induction, consolidation, salvage, bone marrow transplantation)
  Exclusion Criteria:
  -  < 18 years
  -  pregnancy
  -  no intensive chemotherapy (palliative treatment, azacytidine...)

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: Italian Registry on the Prevalence of IDH1/IDH2 Mutations in Patients With Acute Myeloid Leukemia

Summary: This is a study where there are no interventions planned. Investigators will only collect data already in the patient's history and analyze it. Particularly, we are interested in molecular data from AML patients.
  This means that patients will follow their regular diagnostic and clinical practice. The analyses will be conducted according to the routine diagnostic and clinical practice as well and no additional blood withdrawal will be performed.

Detailed description: The study will be conducted as follows:
  1. Retrospective phase clinical and molecular data of patients analyzed for IDH1/2 mutations will be retrospectively collected in the centers that have already introduced IDH1/2 mutational screening in their practice from cases collected according to standard procedure (Ficoll and lysis in RLT buffer).
  2. Prospective phase: each participating center already performing IDH1/2 mutational status on samples of their AML patients at diagnosis or relapse - on freshly isolate mononuclear cells from bone marrow and/or peripheral blood using Ficoll density gradient preparation - will prospectively collect the clinical and molecular data.

Eligibility: Inclusion criteria:
  -  Signed written informed consent according to ICH/EU/GCP and national local laws (if applicable);
  -  AML patients;
  -  Age ≥18;
  -  IDH mutation test performed at diagnosis or relapse until January 31st, 2019.
  Exclusion criteria:
  -  AML M3 subtype according to the FAB classification;

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: Study of Biomarker-Based Treatment of Acute Myeloid Leukemia

Summary: This screening and multi-sub-study Phase 1b/2 trial will establish a method for genomic screening followed by assigning and accruing simultaneously to a multi-study "Master Protocol (BMAL-16-001-M1)." The specific subtype of acute myeloid leukemia will determine which sub-study, within this protocol, a participant will be assigned to evaluate investigational therapies or combinations with the ultimate goal of advancing new targeted therapies for approval. The study also includes a marker negative sub-study which will include all screened patients not eligible for any of the biomarker-driven sub-studies.


Eligibility: Inclusion Criteria:
  -  Adults, age 60 years or older at the time of diagnosis
  -  Subjects or their legal representative must be able to understand and provide written informed consent
  -  Cohort Inclusion Criteria - Group A: Subjects must have previously untreated acute myeloid leukemia (AML) according to the WHO classification with no prior treatment other than hydroxyurea. Prior therapy for myelodysplastic syndrome (MDS), myeloproliferative syndromes (MPD), or aplastic anemia is permitted but not with hypomethylating agents.
  -  Cohort Inclusion Criteria - Group B: Subjects must have relapsed or refractory AML according to the WHO classification. For study purposes, refractory AML is defined as failure to ever achieve CR or recurrence of AML within 6 months of achieving CR; relapsed AML is defined as all others with disease after prior remission. (Group B is not currently recruiting. Expected to begin recruiting in 3rd quarter 2017.)
  Exclusion Criteria:
  -  Isolated myeloid sarcoma (meaning, patients must have blood or marrow involvement with AML to enter the study)
  -  Acute promyelocytic leukemia
  -  Symptomatic central nervous system (CNS) involvement by AML
  -  Signs of leukostasis requiring urgent therapy
  -  Disseminated intravascular coagulopathy with active bleeding or signs of thrombosis
  -  Patients with psychological, familial, social, or geographic factors that otherwise preclude them from giving informed consent, following the protocol, or potentially hamper compliance with study treatment and follow-up
  -  Any other significant medical condition, including psychiatric illness or laboratory abnormality, that would preclude the patient participating in the trial or would confound the interpretation of the results of the trial

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: Study of DS-1001b in Patients With Gene IDH1-Mutated Gliomas

Summary: This is a study to assess the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and anti-tumor activity of DS-1001b in patients with gliomas that harbor IDH1-R132 mutations.


Eligibility: Inclusion Criteria:
  1. Has histologically confirmed glioma with an IDH1-R132 mutation
  2. Has disease that has recurred or progressed following standard treatment including radiotherapy
  3. Has measurable lesion(s) as per RANO criteria
  4. Has Eastern Cooperative Oncology Group (ECOG) performance status of 0 to 2
  Exclusion Criteria:
  1. Has significant symptoms of increased intracranial pressure
  2. Has another active neoplasm
  3. Has active infection requiring systemic treatment
  4. Has a history of severe cardiac disease
  5. Has had prior treatment with any inhibitor targeting mutant IDH1
  6. Has had investigational drug treatment within 4 weeks prior to the first dose of study treatment
  7. Is a pregnant or lactating female

Relevance to patient case: not relevant
Patient case: 1-year-old male with acute myeloid leukemia; genetic feature: IDH1

Clinical trial: Noninvasively Predicting Gene Status of Glioma

Summary: Malignant gliomas are the most common and deadly primary brain tumors in adults. The clinical outcome of patients with glioblastoma depends on key molecular genetic alteration. Specifically, Isocitrate Dehydrogenase Gene Mutation, an independent favorable prognostic factor, serve as diagnostic and prognostic markers of glioma. Thus, accurate grading of a glioma is fundamental in order to determine the treatment strategy. Amide proton transfer (APT) imaging is a noninvasive molecular MRI technique based on chemical exchange saturation transfer mechanism that detects endogenous mobile proteins and peptides in biological tissues. Preliminary studies have shown that APT-weighted (APTw) signal intensity could serve as a new imaging biomarker, by revealing significantly higher signal intensities in the high-grade gliomas compared with the low-grade gliomas. The purpose of this study was to investigate the value of amide proton transfer imaging (APT) in the noninvasive evaluation of isocitrate dehydrogenase (IDH) gene status in glioma.

Detailed description: Materials and Methods:
  The whole brain MRI examinations were performed on a 3.0-T MRI system (Discovery MR750, General Electric Medical System, Milwaukee, WI, USA) with an eight-channel head coil (General Electric Medical System). Conventional MRI, contrast-enhanced MRI, DWI and amide proton transferimaging were performed in regular sequence during the same examination. Finally, contrast-enhanced T1-weighted spin echo sequence was acquired in the transverse, sagittal, and coronal planes after intravenous administration of 0.01 mmol/kg gadodiamide (Omniscan; GE Healthcare, Co. Cork, Ireland).
  MRI data processing and image analysis:
  All data were transferred to a workstation (Advantage Workstation 4.6, General Electric Medical System, Milwaukee, Wisconsin, USA) for processing.The MR imaging of all the patients were assessed independently by two experienced neuroradiologist (HYC and YLF, who have 12 and 6 years of experience, respectively, in neurologic-oncologic imaging) who were blinded to the patient's information. Next, a region of interest (ROI) was drawn manually on the solid part of the tumor with the relatively higher signal intensity on APT image.
  Statistical analysis:
  Categorical data obtained from image were calculated using the Fisher's exact test. Quantitative data were denoted as the mean and standard deviation. The Kolmogorov-Smirnov (K-S) test was used to assess the normality of data distribution.APT-weighted (APTw) signal intensity were tested for differences between the IDH mutation and the IDH wild-type by using independent sample t test.

Eligibility: Inclusion Criteria:
  -  no hypertension or cerebral vascular diseases
  -  no use of corticosteroid drugs
  -  no MRI contraindication
  -  no allergic constitution
  Exclusion Criteria:
  -  pregnant wowan
  -  motion cause poor image quality

Relevance to patient case: not relevant