araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

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: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

Clinical trial: Efficacy and Safety of INCB054828 in Subjects With Advanced/Metastatic or Surgically Unresectable Cholangiocarcinoma Who Failed Previous Therapy

Summary: The purpose of this study is evaluate the efficacy of INCB054828 in subjects with advanced/metastatic or surgically unresectable cholangiocarcinoma with FGFR2 translocation who have failed at least 1 previous treatment.


Eligibility: Inclusion Criteria:
  -  Histologically or cytologically confirmed cholangiocarcinoma.
  -  Radiographically measurable or evaluable disease per RECIST v1.1.
  -  Tumor assessment for FGF/FGFR gene alteration status completed through the central laboratory.
  -  Documented disease progression after at least 1 line of prior systemic therapy.
  -  Eastern Cooperative Oncology Group (ECOG) performance status of 0 to 2.
  -  Life expectancy ≥ 12 weeks.
  Exclusion Criteria:
  -  Prior receipt of a selective FGFR inhibitor.
  -  History of and/or current evidence of ectopic mineralization/calcification, including but not limited to soft tissue, kidneys, intestine, myocardia, or lung, excepting calcified lymph nodes and asymptomatic arterial or cartilage/tendon calcifications.
  -  Current evidence of corneal disorder/keratopathy, including but not limited to bullous/band keratopathy, corneal abrasion, inflammation/ulceration, keratoconjunctivitis, etc, confirmed by ophthalmologic examination.
  -  Use of any potent CYP3A4 inhibitors or inducers within 14 days or 5 half-lives, whichever is shorter, before the first dose of study drug. Topical ketoconazole will be allowed.

Relevance to patient case: not relevant
Patient case: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

Clinical trial: SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study

Summary: The primary objective of the study is to assess the effect of MD1003 on motor and sensory conduction, in patients suffering from demyelinating polyneuropathies.


Eligibility: Inclusion Criteria:
  -  Male and female aged between 20 and 85 years.
  -  Patients fulfilling one of the following diagnosis:
  -  Five patients with chronic inflammatory demyelinating polyneuropathy on both clinical and neurophysiological grounds.
  -  Five patients with proven genetic diagnosis of CMT1a
  -  Five patients with anti-MAG polyneuropathy.
  -  Electrophysiological parameters worsening for the past 3 years
  -  Available EMG record, performed during the past 6 months to assess variability of NCV parameters
  Exclusion Criteria:
  -  Any general chronic handicapping disease other than peripheral neuropathy
  -  Impossibility to perform the 10 meters walking test
  -  Impossibility to assess electrophysiological parameters
  -  Patients with uncontrolled hepatic disorder, renal or cardiovascular disease, or cancer,
  -  Patients with hypersensitivity to MD1003 excipients (lactose)
  -  Laboratory tests out of normal range according to the reference laboratory values. Deviations may be accepted if considered by the investigator as not clinically significant with regards to the study continuation,
  -  Patients with history or presence of alcohol abuse or drug addiction,
  -  Patients likely to be non-compliant to the study procedures or for whom a long-term follow-up seems to be difficult to achieve.
  -  Any new medication for neuropathy initiated less than 3 months prior to inclusion. For CIDP patients, relapse in the past 3 months before inclusion.

Relevance to patient case: not relevant
Patient case: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

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: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

Clinical trial: This Research Hypothesizes That the Use of a Rigid Rocker Sole Reduces the Recurrence Rate of Diabetic Foot Ulcers in Patients With Peripheral Neuropathy.

Summary: This research presents a randomized clinical trial which analyzes the efficacy of a rigid rocker sole in the reduction of the recurrence rate of plantar ulcers in diabetic foot patients. The hypothesis of the research is the use of a rigid rocker sole reduces the recurrence rate of diabetic foot ulcers in patients with peripheral neuropathy.


Eligibility: Inclusion Criteria:
  -  Type 1 or 2 diabetic patients regardless of the pharmacotherapy that they receive.
  -  Adult patients of both sexes.
  -  Peripheral neuropathy patients.
  -  Patients without wounds or ulcers at the examination time.
  -  Patients with a foot ulcers history.
  -  Patients with or without minor amputation prior to the inclusion time in the present study.
  -  Patients who don´t need gait support mechanisms such as walking sticks, crutches, splints or any other devices which interferes with the autonomous development of the gait.
  Exclusion Criteria:
  -  Patients with mayor amputation.
  -  Patients with rheumatic disease that affect the feet.
  -  Patients with peripheral neuropathy of different etiology to Diabetes mellitus.
  -  Patients with several critical ischemia criteria, defined by TACS II guideline.

Relevance to patient case: not relevant
Patient case: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

Clinical trial: Serum Caspase 3, Annexin a2 and Soluble Fas Levels and Endometriosis

Summary: The study population will comprise of 90 women age varying between 15-55 years, those are candidate for laparoscopic surgery due to definition of >4 cm endometrioma or any other benign ovarian cysts such as mature teratoma or simple serous cysts on ultrasound examination, chronic pelvic pain, infertility. The blood samples will be drawn for analysis of serum biomarkers.

Detailed description: The participants will be accepted for the study between 1st of August 2016 to 30th June 2017. 2 cc blood samples will be drawn from the antecubital vein for serum analysis of caspase 3, annexin a2 and soluble fas levels before the operations. The patients will divide into three groups. The group 1 will comprise of 30 patients with benign ovarian cysts such as mature teratoma or simple serous cysts on ultrasound examination. The group 2 will comprise of 30 patients with diagnosis of stage 1-2 endometriosis in guidance with the revised American Society for Reproductive Medicine classification. The group 3 will comprise of 30 patients with diagnosis of stage 3-4 endometriosis in guidance with the revised American Society for Reproductive Medicine classification. The blood samples will be kept in -80 C degree after centrifuge till at the end of the study.The relation between serum caspase 3, annexin a2 and soluble fas levels and severity of endometriosis will be analysed.

Eligibility: Inclusion Criteria:
  -  The women ages varying between 15-55 years, those are candidate for laparoscopic surgery due to definition of >4 cm endometrioma or any other benign ovarian cysts such as mature teratoma or simple serous cysts on ultrasound examination, chronic pelvic pain, infertility.
  Exclusion Criteria:
  -  The women with malignant diseases, chronic bowel disease, other defined cause of infertility.

Relevance to patient case: not relevant
Patient case: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

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: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

Clinical trial: Reconstruction of the Bile Duct With the Round Ligament

Summary: The investigators developed a new surgical technique in order to reconstruct the bile duct with the round ligament

Detailed description: Classically, the bile duct defect after bile duct injury or resection is achieved by bilioenteric reconstruction. However bilioenteric anastomosis is associated with long term complications including intrahepatic bile ducts infection, specific complications related to the Roux en Y jejunal loop and eliminate the endoscopic access to intrahepatic bile ducts. The investigators had recently developed a new surgical technique to reconstruct the veins with the parietal peritoneum with excellent results. Accordingly the investigators decided to develop a new surgical technique in order to reconstruct the bile duct defects with the vascularized round ligament.

Eligibility: Inclusion Criteria:
  1. Radiological or operative diagnosis of bile duct Injury or defect
  2. Can underwent surgical procedure
  Exclusion Criteria:
  1) The absence of the round ligament

Relevance to patient case: not relevant
Patient case: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

Clinical trial: Lumacaftor/Ivacaftor Combination Therapy in Subjects With CF Who Have an A455E CFTR Mutation

Summary: This is a Phase 2, randomized, double-blind, placebo-controlled, multicenter, crossover study that will evaluate the efficacy of LUM/IVA in subjects with CF 12 years of age and older who have at least one A455E mutation.


Eligibility: Inclusion Criteria:
  -  Male or female with confirmed diagnosis of CF
  -  All subjects must have an A455E mutation on at least 1 CFTR allele; no more than 10 subjects may have an F508del mutation on 1 CFTR allele.
  -  Forced expiratory volume in one second (FEV1) ≥30% of predicted and ≤90% of predicted at the Screening Visit, based on the Global Lung Function Initiative (GLI)-2012 multi ethnic all-age reference equations.
  -  Stable CF disease as judged by the investigator.
  -  Willing to remain on a stable medication regimen for CF from 4 weeks before Day 1 through the Follow up Visit.
  Exclusion Criteria:
  -  History of any comorbidity reviewed at the Screening Visit that, in the opinion of the investigator, might confound the results of the study or pose an additional risk in administering study drug to the subject.
  -  A G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N, S549R, or R117H mutation on at least one CFTR allele.
  -  Pregnant or breastfeeding.
  -  Any abnormal laboratory values at the Screening Visit.
  -  History of cataract/lens opacity, or evidence of cataract/lens opacity determined to be clinically significant by the ophthalmologist or optometrist during the ophthalmologic examination at the Screening Visit.
  -  Use of strong inhibitors or strong inducers of CYP3A, including consumption of certain herbal medications and certain fruit and fruit juices, within 14 days before Day 1
  -  Sexually active subjects of reproductive potential who are not willing to follow the contraception requirements

Relevance to patient case: not relevant
Patient case: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

Clinical trial: A Study of Cisplatin or Carboplatin With Gemcitabine Versus Gemcitabine Alone as Adjuvant Therapy in Patients With Resected or Ablation Intra-Hepatic Cholangiocarcinoma

Summary: Compare the efficacy of adjuvant chemotherapy with Cisplatin or Carboplatin and Gemcitabine versus Gemcitabine in patients with resected or ablated intra-hepatic cholangiocarcinoma.

Detailed description: Phase III, multicenter, open label, randomized study of Cisplatin or Carboplatin with Gemcitabine versus Gemcitabine alone as adjuvant therapy in patients with resected or ablated intra-hepatic cholangiocarcinoma. Subjects will be randomized in a 1:1 fashion to Cisplatin or Carboplatin with Gemcitabine versus Gemcitabine alone.

Eligibility: Inclusion Criteria:
  -  At least 18 years of age, of any race or sex who are eligible to sign written consent and have undergone prior resection of histological evidence of intrahepatic cholangiocarcinoma
  -  Hematologic function: ANC ≥ 1.5 x 10 /L, platelets ≥ 75 x 10 /L, and hemoglobin > 9 g/dL
  -  Adequate liver function as measured by: total bilirubin ≤ 2.0 mg/dl, AST and ALT ≤ 5 ULN, albumin ≥ 2.5 g/dl
  -  Adequate renal function as measured by: creatinine ≤ 2.9 mg/dl, > 50 ml/min calculated by the C-G equation
  -  Non-pregnant women of child bearing potential and fertile men are required to use effective contraception (negative pregnancy test for women of child-bearing age)
  -  ECOG status ≤ 1 at screening
  Exclusion Criteria:
  -  Subjects will be eligible for the study if they meet all inclusion criteria

Relevance to patient case: not relevant
Patient case: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

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
Patient case: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

Clinical trial: ncRNAs in Exosomes of Cholangiocarcinoma

Summary: Exosomes are part of extracellular vesicles(EVs), and can be secreted into the environment by many types of cells. It has been demonstrated that the content and function of exosomes depends on the originating cell and the conditions under which they are produced.Exosomes contain proteins,RNAs and lipid,which may transfer biological information and activities from donor cells to receptor cells. Non-coding RNAs are involved in many biological activities including tumor growth and metastasis.
  In this prospective translational study, preclinical and clinical phases have been designed. On the first step, the main goal is to characterize the ncRNAs of cholangiocarcinoma derived exosomes. This exosome biomarker may provide a useful diagnostic tool. As a second step, the study will evaluate the prognostic and predictive value of cholangiocarcinoma exosomes levels in plasma in a prospectively recruited cohort of cholangiocarcinoma patients before and after surgical resection.


Eligibility: Inclusion Criteria:
  -  1.Provide signed informed consent. The subject is capable of understanding and complying with parameters as outlined in the protocol and able to sign informed consent, approved by the Independent Ethic Committee (IEC)/Institutional Review Board (IRB) prior to the initiation of any study-specific procedures.
  2.Men or women aged >= 18 years. 3.Histology- or imaging-confirmed bile duct stricture. 4.Metastatic disease or locally advanced disease not amenable to curative surgery.
  5.Radiographically assessable, non-measurable disease or measurable disease as per RECIST criteria.
  6.Life expectancy of at least 8 weeks from the time of enrollment. 7.No other malignancy within the past 5 years. 8.No prior chemotherapy for advanced disease.
  Exclusion Criteria:
  - 1.Pregnant or lactating females. 2.Significant neurological or psychiatric disorders (psychotic disorders, dementia or seizures) that would prohibit the understanding and giving of informed consent.
  3.Active Hepatitis B or C or history of an HIV infection. 4.Active uncontrolled infection.

Relevance to patient case: not relevant
Patient case: 64-year-old male with Cholangiocarcinoma. Genetic variant: IDH1 (R132H). Other conditions: Neuropathy.

Clinical trial: Microbiomes in Patients of Recurrent Common Bile Duct Stones

Summary: Bile duct stones is a common biliary tract disease, which is characterized by high morbidity and frequent recurrence. Endoscopic retrograde cholangiopancreatography (ERCP) is an effective therapy for common bile duct stones, and endoscopic sphincterotomy (EST) which associated with recurrent cholangiolithiasis often carried out on difficult intubation or extracting stones, probably due to enhanced reflux of intestinal contents that changes the microenvironment. Patients with cholangiolithiasis were consecutively recruited and their bile was collected intra-operatively for high-throughput experiments. Pyrosequencing of 16S ribosomal RNA gene was performed to characterize the microbiota in the bile and other body fluids. A liquid chromatography mass spectrometry-based method was used to profile bile composition. Clinical manifestation, microbiome, and bile composition were compared between patients with or without recurrent of bile duct stones. The aim of our study was to identify the impact of microbiomes on the recurrent of bile duct stones after ERCP+EST therapy.


Eligibility: Inclusion Criteria:
  1. Patients with recurrent common bile duct stones.
  2. No antibiotics or probiotics are used for nearly three months.
  3. In addition to common bile duct stones, possibly without other digestive diseases.
  Exclusion Criteria:
  1. Significant neurological or psychiatric disorders (psychotic disorders, dementia or seizures) that would prohibit the understanding and giving of informed consent.
  2. Pregnant or lactating females.
  3. Active Hepatitis B or C or history of an HIV infection.
  4. Active uncontrolled infection.
  5. Billroth II or roux-en Y gastrointestinal alteration people.

Relevance to patient case: not relevant