araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Auricular Acupressure (AA) For Overweight/Obese Adolescent and Young Polycystic Ovary Syndrome ( PCOS)

Summary: The purpose of this trial is to investigate the effect and safety of auricular acupressure on adolescent and young women with PCOS. Subjects will be randomly assigned in to two arms: Auricular acupressure arm and placebo auricular acupressure, both arms will be treated for three months. Body mass index, oral glucose tolerance test, hormonal profile and metabolic profile will be determined.


Eligibility: Inclusion Criteria:
  -  Women aged between 12 and 25 years.
  -  Diagnosis of PCOS according to the modified Rotterdam criteria.
  -  2 years after menarche.
  -  Body mass index (BMI) equal to or greater than 23 kg/m*m.
  Exclusion Criteria:
  -  Administration of other medications known to affect reproductive function or metabolism within the past three months, including oral contraceptives, Gonadotropin-releasing hormone (GnRH) agonists and antagonists, anti androgens, gonadotropins, anti-obesity drugs, Chinese herbal medicines, anti diabetic drugs such as metformin and thiazolidinediones, somatostatin, diazoxide, and calcium channel blockers.
  -  Patients with other endocrine disorders including 21-hydroxylase deficiency, hyperprolactinemia, uncorrected thyroid disease, suspected Cushing's syndrome.
  -  Patients with known severe organ dysfunction or mental illness.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Use of CBCT-based Tooth Replica in Tooth Autotransplantation to Improve the Outcome of Tooth Replacement in Children

Summary: The aim of this study lies in comparing the outcome of the proposed technique in a large sample size group to the outcome of the conventional tooth autotransplantation method and to provide sufficient evidence for improving the long-term success rate of the tooth autotransplantation procedure.


Eligibility: Inclusion Criteria:
  The subjects will be divided in two groups according to different surgical protocols.
  1. Pediatric subjects (age between 9-18 years) treated with the CBCT-based replica procedure (prospective approach).
  Pediatric subjects (N=50) that missed their teeth due to agenesis or lost their permanent teeth due to trauma, caries, and endodontic failure and referred to dentistry department for replacement of the missing tooth by means of tooth autotransplantation.
  2. Pediatric subjects (age between 9-18 years) treated with the conventional method (prospective and retrospective).
  Pediatric subjects (N=50) that missed their teeth due to agenesis or lost their permanent teeth due to trauma, caries, and endodontic failure and referred to dentistry department for replacement of the missing tooth by means of tooth autotransplantation.
  A matched control patient will be selected with the focus on a very similar surgical challenge, based on age, gender and a matching donor tooth with the same stage of root development and host bed.
  Exclusion Criteria:
  -  Potential participants (case and control) will be excluded if follow-up data are missing for the one-year follow-up.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Prospective Study of Patients With Thrombocytopenia Following HSCT

Summary: Isolated thrombocytopenia is a common and severe complication of HSCT, which often leads to an increased risk of life-threatening hemorrhage, frequent requirement of platelet transfusions and extended hospital stays, representing a challenging clinical problem. Current treatments for thrombocytopenia after HSCT are frequently unsatisfactory in platelet recovery and for preventing potentially fatal bleeding complications. Therefore, it is urgent to explore an effective therapy to improve the outcomes of thrombocytopenia after HSCT. Previous studies have demonstrated that decitabine, a hypomethylating agent, may reduce platelet transfusions in myelodysplastic syndrome (MDS) patients. The investigators conducted an prospective clinical trial to evaluate the safety and efficiency of rhTPO and decitabine in the treatment of thrombocytopenia following HSCT.

Detailed description: Isolated thrombocytopenia is a frequent and severe complication of hematopoietic stem cell transplantation (HSCT). It often leads to an increased risk of life-threatening hemorrhage, frequent requirement of platelet transfusions and extended hospital stays, representing a challenging clinical problem. Current treatments for thrombocytopenia after HSCT, including thrombopoietin, interleukin-11, immunoglobulin, methylprednisolone and rituximab, are frequently unsatisfactory in platelet recovery. Therefore, it is urgent to explore an effective therapy to improve the outcomes of thrombocytopenia after HSCT. Thrombopoietin (TPO) is a cytokine that drives thrombopoiesis by stimulating the differentiation of stem cells into megakaryocytes and promoting megakaryocyte proliferation and polyploidization. Decitabine was approved for the treatment of myelodysplastic syndrome (MDS) as a DNA methylation inhibitors. Studies in vitro show that decitabine enhances platelet release and megakaryocyte maturation. Here, the investigators performed a prospective clinical trial, in order to investigate the safety and efficiency of rhTPO and decitabine in the treatment of thrombocytopenia following HSCT.

Eligibility: Inclusion Criteria:
  1. Platelet count ≤ 30 × 109/L persistently at day 60 post-HSCT or later;
  2. Neutrophil and hemoglobin were well recovered;
  3. Full donor chimerism was achieved;
  4. No response to conventional treatments (e.g. thrombopoietin, immunoglobulin, rituximab, plasma exchange alone or in combination) for a duration of at least 4 weeks.
  Exclusion Criteria:
  1. Patients with malignancy relapse,
  2. active infections,
  3. uncontrolled graft-versus-host disease,
  4. severe organ damage
  5. transplant-related thrombosis.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: A Study to Evaluate Ibrutinib Combination Therapy in Patients With Selected Gastrointestinal and Genitourinary Tumors

Summary: The purpose of this study is to evaluate the safety, tolerability, and efficacy of the combination treatment of ibrutinib with everolimus, paclitaxel, docetaxel, or cetuximab in selected advanced gastrointestinal and genitourinary tumors.


Eligibility: Inclusion Criteria:
  -  RCC (clear cell), urothelial carcinoma (transitional cell), gastric or gastro-esophageal junctional (GEJ) adenocarcinoma, or K-RAS or N-RAS wild-type EGFR expressing CRC
  -  For RCC:
  -  previously received at least 1 but no more than 4 lines of therapy, one therapy must have included a VEGF TKI
  -  ECOG performance status of 0-1 (score of 2 may be acceptable)
  -  For urothelial carcinoma:
  -  previously received at least 1 but no more than 2 lines of therapy, one therapy must have included a platinum based regimen
  -  ECOG performance status of 0-1
  -  For gastric or GEJ adenocarcinoma:
  -  previously received at least 1 but no more than 3 lines of therapy, one therapy must have included a fluoropyrimidine based regimen
  -  ECOG performance status of 0-1
  -  For CRC:
  -  previously received at least 2 but no more than 4 lines of therapy, which must have included both an irinotecan and an oxaliplatin based regimen
  -  ECOG performance status of 0-1 (score of 2 may be acceptable)
  -  For all cohorts:
  -  Adequate hematologic function:
  -  Absolute neutrophil count (ANC) >1500 cells/mm3
  -  For RCC, platelet count ≥80,000 cells/mm3
  -  For urothelial carcinoma, gastric or GEJ adenocarcinoma, and CRC, platelet count ≥100,000 cells/mm3
  -  For RCC, urothelial carcinoma, and gastric or GEJ adenocarcinoma, hemoglobin ≥8.0 g/dL
  -  For CRC, hemoglobin ≥9.0 g/dL
  -  Adequate hepatic and renal function defined as:
  -  AST and/or ALT ≤5.0 x upper limit of normal (ULN) if liver metastases, or ≤3 x ULN without liver metastases
  -  Alkaline phosphatase <3.0 x ULN or ≤5.0 x ULN if liver or bone metastases present
  -  Bilirubin ≤1.5 x ULN (unless bilirubin rise is due to Gilbert's syndrome or of non-hepatic origin, such as hemolysis)
  -  Estimated Creatinine Clearance ≥30 mL/min
  Exclusion Criteria:
  -  For RCC, prior treatment with everolimus or temsirolimus
  -  For urothelial carcinoma, prior treatment with any taxane
  -  For gastric or GEJ adenocarcinoma, prior treatment with any taxane
  -  For CRC, prior treatment with cetuximab or panitumumab
  -  For all cohorts:
  -  concomitant use of warfarin or other Vitamin K antagonists
  -  history of stroke or intracranial hemorrhage within 6 months prior to enrollment
  -  major surgery within 4 weeks of first dose of study drug
  -  requires treatment with strong CYP3A inhibitors
  -  known bleeding disorders or hemophilia

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Circulating Tumor DNA and Follow-up of BRCA1 Mutation Carriers (CirCa 01)

Summary: BRCA1 carriers who are at high risk of developing either a relapse and/or a new cancer growth will be included. These patients will be followed up during 30 months (2,5 years) with mutated TP53 mutation detection or during 42 months (3,5 years) with mutated TP53 mutation detection and circulating tumor cells detection (CTC) performed at each hospital visit (for technical reason only patients included at Institut Curie will be proposed to participate to the CTC substudy).


Eligibility: Inclusion Criteria:
  1. Patient with no evidence of any invasive tumor mass at inclusion (clinical and, if any, radiological exams)
  2. Carriers of known germline BRCA1 deleterious mutation (a personal history of cancer is NOT mandatory).
  3. Age ≥ 30 years for patient with personal previous history of cancer
  4. Age ≥ 40 years for patient without personal previous history of cancer
  5. Patient who a follow-up visit is scheduled in the including center at least once a year
  6. Patient having health care insurance
  7. Signed informed consent by patient
  Exclusion Criteria:
  1. Patient presenting with invasive tumor masses (e.g. stage IV cancer or localized cancer not yet surgically removed)
  2. Carriers of germline BRCA1 variant of unknown significance
  3. Carriers of germline BRCA2 deleterious mutation or variant
  4. Individuals with a low risk of BRCA1-related tumor growth, i.e. women who underwent prophylactic bilateral mastectomy AND adnexectomy.
  5. Any medical or other condition that in the Investigator's opinion rendered the patient unsuitable for this study
  6. Patient deprived from ability to decide on her own.
  7. Patient unable to have a regular follow up for geographical, social or psychological reasons.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary Presentation

Summary: Despite relevant clinical and/or familial presentations suggesting a hereditary predisposition (early-onset, multiple primary tumors, familial aggregation), targeted genomic analysis based on the phenotype are often non contributive. As somatic cancer genes are limited, the hypothesis is that the targeted next-generation sequencing of 200 genes, selected for their implications in cancers may contribute to the understanding of many selected patients' presentation by the identification of germline deleterious mutations, and may identified phenotype overlapping and/or mosaicisms. The focus will be put on early-onset breast, ovarian, colorectal cancer or pediatric cancers and multiple primary tumors.


Eligibility: Inclusion Criteria :
  -  Older than 18 or parental agreement in case of children.
  For patient with early-onset breast cancer :
  -  Invasive breast cancer, regardless of histological type or stage, diagnosed before 31 years.
  -  Sporadic or familial presentation
  -  No genomic alterations of BRCA1, BRCA2 or TP53
  For patient with early-onset ovarian cancer :
  -  Invasive ovarian cancer, regardless of histological type or stage, diagnosed before 41 years.
  -  Sporadic or familial presentation
  -  No genomic alterations of BRCA1, BRCA2
  Patient with early-onset colorectal cancer :
  -  Invasive colorectal cancer diagnosed before 31 years.
  -  Sporadic or familial presentation
  -  No genomic alteration of MSH2, MLH1 or MSH6 in case of HNPCC presentation
  -  No genomic alteration of APC, MUTYH, SMAD4, BMPR1A, PTEN or STK11 in case of adenomatous polyposis or hamartoma presentation
  Patient with pediatric cancer :
  -  Non haematological tumour diagnosed before 16 years, with Li-Fraumeni presentation.
  -  No genomic alteration of TP53
  Patient with Multiple primary malignant tumours :
  -  Multiple synchronous or metachronous primary malignant tumors with early-onset
  -  No syndromic presentation
  Exclusion Criteria:
  -  Any already known deleterious mutations according to the patient's phenotype

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)

Summary: A clinical trial of AAV2/5 vector for patients with Defects in RPE65

Detailed description: A dose escalation and dose expansion (Phase I/II) trial of adults and children with retinal dystrophy associated with defects in RPE65. ATIMP will be administered to one eye only in a single sub-retinal procedure

Eligibility: Key Inclusion Criteria:
  -  Aged 3 years or older
  -  Early-onset severe retinal dystrophy consistent with RPE65 deficiency
  Key Exclusion Criteria:
  -  Females who are pregnant or breastfeeding
  -  Have participated in another research study involving an investigational therapy for ocular disease within the last 6 months.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Developing and Implementing Familial Hypercholesterolemia Registry

Summary: Familial hypercholesterolemia (FH) is a most prevalent genetic disorder define as high cholesterol level and premature death. The prevalence of FH reported in few countries however unknown in Iran. Thus determine the FH patient, finding diagnostic strategy and appropriate treatment are important. We intent to use cascade method to screening patients, also our expected outputs are to develop and implement a registry program for FH patients and their families and to study their genetic disorder. FH patients will be followed from management, treatment and prevention of Cardio vascular disease in order to increase premature death.

Detailed description: Familial hypercholesterolemia (FH) is a genetic disorder define as high cholesterol levels, particularly very high levels of low-density lipoprotein (LDL), in the blood and early cardiovascular disease and premature death. FH is an autosomal dominant disease with a prevalence 1:500 (new study in Netherlands demonstrated 1:244) in population more frequent than Cystic fibrosis, mellitus diabetes or neonatal hypothyroidism. Canadian registry demonstrated FH is more common among people if French Canadian, Christian Lebanese, and Afrikaner descent. The Major causes of FH are pathogenic variant in the LDL-receptor (LDLR) gene or the Apo lipoprotein B (APOB) gene. The clinical signs of FH are high level of Cholesterol (between 350-550 mg/dL in heterozygous), Yellow deposits of cholesterol-rich fat in various places on the body such as around the eyelids (known as xanthelasma palpebrarum), the outer margin of the iris (known as arcus senilis corneae), and in the tendons of the hands, elbows, knees and feet, particularly the Achilles tendon (known as a tendon xanthoma). FH is a hidden syndrome which leads to cardiovascular disease.
  After introducing the statins total mortality have reduced significantly in these patients. Thus screening and identification of patients and treatment with the most effective therapies will decrease the risk of premature death.
  Also, most of patients require an appropriate lipid-lowering medications. Although the genetic problem is the most important factor to expression of FH other factors like environmental and metabolic factor can be effective in CVD and premature death.
  Therefore, identification and follow-up FH patients is important for CVD Rate cuts and decrease Treatment costs thus this study can gain these outcomes.

Eligibility: Inclusion Criteria:
  Personal concentration of LDL-C > 190 mg/dL or LDL-C > 120 mg/dL in Treatment Group.
  Family and/or personal history of premature heart disease.
  Exclusion Criteria:
  Hyperlipidemia with underlying disorders.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Evaluation of Tomosynthesis for Characterization and the Management of Breast Lesions

Summary: Tomosynthesis is an innovative technique developed in digital mammography for obtaining a sectional image of the breast. Mammography has the main disadvantage of being an imaging projection that creates overlays, which eliminates tomosynthesis.
  The objective of this study is to evaluate if the BI-RADS classification obtained by tomosynthesis with synthetic mammography is superior to that obtained by conventional mammography in terms of specificity while not inferior in terms of sensitivity.


Eligibility: Inclusion Criteria:
  -  Patient having clinical or breast imaging abnormalities classified as BiRads 3, 4, 5 (Table 1). (5)
  -  Patient over 18 years old
  -  Signed informed consent
  Exclusion Criteria:
  -  Patients at high risk of breast cancer, mutations BRCA 1 (BReast CAncer gene 1) or BRCA 2 (BReast CAncer gene 2) carriers, Li Fraumeni, or history of thoracic radiation will be excluded because of their greater sensitivity to ionizing radiation.
  -  Patient unable to give informed consent for physical, mental, or legal reasons.
  -  Patient not affiliated with French Social Security Insurance.
  -  Patient under treatment for breast cancer.
  -  When mammography is not recommended according to good practice by the French Health Authority (HAS).
  -  Pregnant patient.

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Brain Computer Interface Complete locked-in State Communication

Summary: Electroencephalography (EEG) and/or near-infrared spectroscopy (NIRS) based Brain computer interface for communication in patients without any means of communication.

Detailed description: Amyotrophic lateral sclerosis is a progressive motor disease of unknown etiology resulting eventually in a complete paralysis of the motor system but affecting sensory or cognitive functions to a minor degree. There is no treatment available; patients have to decide to accept artificial respiration and feeding after the disease destroys respiratory and bulbar functions or to die of respiratory or related problems. If they opt for life and accept artificial respiration, the disease progresses until the patient loses control of the last muscular response, usually the eye muscles. If rudimentary voluntary control of at least one muscle is present the syndrome is called locked-in state (LIS); ultimately as the disease progresses most ALS patients lose the control of all muscles, the resulting condition is called completely locked-in state (CLIS). Patients in CLIS are unable to communicate with the external world because all assistive communication aids are based on some remaining motor control; hence there is a vital need for an assistive technology to help patients in CLIS to communicate needs and feelings to their family members/caregivers. Brain computer interface (BCI) represents a promising strategy to establish communication with paralyzed ALS patients, as it does not need muscle control. BCI research includes invasive (implantable electrodes on or in the neocortex) and noninvasive means (including electroencephalography (EEG), magnetoencephalography (MEG), functional magnetic resonance imaging (fMRI), and near-infrared spectroscopy (NIRS)) to record brain activity for conveying the user's intent to devices such as simple word-processing programs. Non-invasive methods have been utilized more frequently than invasive methods for people with disabilities (such as those with ALS).
  For these conditions (LIS and CLIS) Brain-Computer-Interface were developed and tested extensively since the first publication of Birbaumer, 1999 of two LIS patients suffering from ALS. Patients select letters or words after learning self-regulation of the particular brain signal or by focusing their attention to the desired letter or a letter-matrix and the attention related brain potential selects the desired letter.
  Different types of BCI based on EEG and/NIRS is under development to provide a means of communication to patients who have none.

Eligibility: Inclusion Criteria:
  -  Amyotrophic lateral sclerosis patients without any eye movement
  Exclusion Criteria:
  -  Amyotrophic lateral sclerosis patients with intact eye movement

Relevance to patient case: not relevant
Patient case: 14-year-old female with Li-Fraumeni syndrome; genetic feature: TP53

Clinical trial: Inherited Susceptible Genes Among Epithelial Ovarian Cancer

Summary: Purpose: To investigate the prevalence of the germline mutations in the BRCA 1/2 and mismatch repair genes in patients with epithelial ovarian cancer (EOC) and their relatives, and related somatic mutations in tumor tissues in the northern part of china.
  Patients and methods: A multicenter prospective study will be hold in the northern part of china form 2017. About 1000 female patients with epithelial ovarian cancer and their ralatives will be tested for germline mutations in the BRCA 1/2 and mismatch repair genes and related somatic mutations in tumor tissues, regardless of the family history.
  Study type: Observational Official title: Prevalence study of germline mutations in susceptibility ovarian cancer genes in patients with epithelial ovarian cancer and somatic mutations in their tumor tissures in the northern part of china.
  Enrollment: 1000


Eligibility: Inclusion Criteria:
  1. epithelial ovarian cancer and their relatves
  2. living in the north of Huaihe River in China
  3. being Han Chinese
  Exclusion Criteria:
  1. non-epithelial ovarian cancer
  2. without specific pathological diagnosis
  3. non-Han Chinese

Relevance to patient case: not relevant