araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Neoadjuvant Treatment of Colon Cancer

Summary: This study will investigate
  -  the effect of preoperative combination chemotherapy in patients with locally advanced colon cancer with mutation in the KRAS, BRAF or PIK3CA gene
  -  the effect of preoperative combination chemotherapy in combination with biological treatment in patients without mutation in the KRAS, BRAF or PIK3CA gene.


Eligibility: Inclusion Criteria:
  -  Histologically verified locally advanced T3 or T4 colon cancer assessed by CT scan
  -  Analysis of KRAS, BRAF, PIK3CA
  -  Age ≥18 år
  -  Performance status ≤ 2
  -  Hematology
  -  ANC ≥ 1.5x10^9/l. Thrombocytes ≥ 100x10^9/l.
  -  Biochemistry
  -  Bilirubinaemia ≤ 3 x UNL. ALAT ≤ 5 x UNL
  -  Consent to translational research
  -  Fertile women must present a negative pregnancy test and use secure birth control during and 3 months after treatment.
  -  Written and orally informed consent.
  Exclusion Criteria:
  -  Clinically significant cardiovascular disease (including myocardial infarction, unstable angina, symptomatic congestive heart failure, serious uncontrolled cardiac arrhythmia) ≤ 1 year before enrollment, active severe infections or other concurrent disease.
  -  Peripheral neuropathy NCI grade >1
  -  Other malignant disease within 5 years prior to enrollment, except basal cell squamous carcinoma of the skin and cervical carcinoma-in-situ
  -  Other investigational treatment within 30 days prior to treatment start
  -  History of interstitial lung disease e.g. pneumonitis or pulmonary fibrosis or evidence of interstitial lung disease on baseline chest CT scan.
  -  Bleeding tumors
  -  Hypersensitivity to one or more of the substances

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: An Observational Study to Evaluate the Safety and Efficacy of FOLFIRI / FOLFOX Plus Cetuximab as First-line Therapy in Patients With KRAS Wild-type Metastatic Colorectal Cancer

Summary: This is an open-label, non-randomized, prospective, multicentric, Phase IV study evaluating FOLFIRI/ FOLFOX plus cetuximab in the first-line therapy of subjects with KRAS wild-type metastatic CRC.

Detailed description: Cetuximab, a chimeric immunoglobulin G1 (IgG1) monoclonal antibody, has been found to potentiate the effects of chemotherapy and radiotherapy in experimental systems. The findings from clinical trials suggest a favorable risk-benefit ratio of the combination of irinotecan or oxaliplatin, infusional 5-FU/FA and biweekly cetuximab, and support the current study to demonstrate the therapeutic value of the biweekly cetuximab regimen as a combination partner for those regimens in subjects with KRAS wild-type mCRC in the first-line setting. The purpose of this study is to generate post marketing surveillance (PMS) data for cetuximab in first-line mCRC, which is mandated by the Licensing Authorities.
  This is an open-label, non-randomized, prospective, multicentric Phase IV study evaluating FOLFIRI/ FOLFOX plus cetuximab in the first-line therapy of subjects with KRAS wild-type metastatic CRC. The study plans to enroll 100 subjects with KRAS wild type CRC at 20 centres across India. Tumour status, physical and laboratory examinations will be performed during the baseline visit. Subjects will be administered FOLFIRI/ FOLFOX and cetuximab according to the clinical condition in the following treatment visits. Regular safety assessments and all adverse events (AEs) will be documented throughout and until the end-of-study visit. The outcome of AEs ongoing at the final tumour assessment visit will be followed up at the end-of-study visit (If possible, 6 weeks after the last administration of study medication but before second-line anticancer treatment, and not earlier than 30 days after the end of study treatment). Skin toxicity present at the end-of-study visit will be followed up until outcome is known.
  OBJECTIVES
  Primary Objective:
  -  To evaluate the safety and tolerability of Cetuximab in combination with standard chemotherapy such as FOLFOX or FOLFIRI as first-line therapy of patients with KRAS wild-type metastatic colorectal cancer.
  Secondary Objective:
  -  To evaluate the efficacy of Cetuximab in combination with standard chemotherapy as first-line therapy of patients with KRAS wild-type metastatic colorectal cancer.

Eligibility: Inclusion Criteria:
  -  Subjects with histologically confirmed, adenocarcinoma of the colon or rectum (mCRC)
  -  Subjects with KRAS wild-type status of tumour tissue
  -  Chemotherapy naïve subjects
  -  Subject who have signed written informed consent (as per institutional protocol)
  Exclusion Criteria:
  -  As per summary of product characteristics of cetuximab

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Non Small Cell Lung Cancer Evaluation According to Pre-determined Drug-targeting Tumor Markers

Summary: Evaluate chemotherapy related tumor markers on non small cell lung cancer by fluorescent in situ hybridization and immunohistochemistry, targets to be studied include EGFR, c-MET, topoisomerase II, p53, topoisomerase I, thymidylate synthase, ERCC1, tau, c-myc, RRM1, class III tubulin. These targets have been chosen because they are targets for chemotherapeutic agents that are currently used in clinical management of these diseases. In total 50 specimen will be studied, approximately one third have mutations/deletions of the EGFR gene.To attempt to establish a correlation between the pre-selected tumor markers and response to chemotherapy, and thus to be able to create a clinically useful classification that would provide clinical guidance for selection of the most effective chemotherapy for a individual patient, and thus be able to logically design more effective clinical trials for the future.


Eligibility: Inclusion Criteria:
  -  Patients with histologically confirmed lung cancer who received standard platinum-containing doublet chemotherapy followed by EGFR tyrosine kinase inhibitors.
  Exclusion Criteria:
  -  non

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Johns Hopkins Crohn's Disease and Ulcerative Colitis Study

Summary: Inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), is a idiopathic, chronic and frequently disabling inflammatory disorder of the intestines characterized by a dysregulated mucosal immune response that affect more than a million Americans. This current protocol was established in 1996 with the goal of identifying the genetic and environmental components that contribute to the development of IBD, especially in families.

Detailed description: We initiated this research study in 1996 with the overall goal of identifying IBD susceptibility genes. In the beginning, our major focus was recruitment of multiply affected IBD pedigrees for linkage studies, but we have since expanded our study to include singleton cases and spousal/friend as well as population controls for comparison purposes Our recruitment goal is 2500 subjects.
  Blood samples obtained from participants are used to isolate lymphocytes for storage, serum for serological analysis of antibodies and other proteins relevant to IBD and DNA for genotyping or sequencing. Lymphocytes may be transformed with EBV to establish immortalized lymphoblastoid cell lines. These cell lines can be used as a secondary DNA source or to study IBD relevant gene, protein expression and cell function

Eligibility: Inclusion Criteria:
  ADULTS:
  -  Patients with IBD and their family members who have or do not have IBD.
  -  People that do not have IBD nor have a family member with IBD needed for comparison purposes.
  CHILDREN:
  -  Children age 5 or older with IBD and their family members who have or do not have IBD.
  -  Children that do not have IBD nor have a family member with IBD needed for comparison purposes.
  Exclusion Criteria:
  -  The only exclusions are age parameters and health reasons that would preclude their enrollment; such as, for anemic patients. Blood-draws on anemic patients may, in certain medical cases, pose a health risk to them; therefore, we request that if they are anemic that they present a letter from their personal physician giving explicit permission for them to join if at the time it is clinically advisable.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Study of Everolimus in the Treatment of Advanced Malignancies in Patients With Peutz-Jeghers Syndrome

Summary: In this pilot study the investigators will treat all patients known with Peutz-Jeghers syndrome (PJS) who are diagnosed with advanced malignancies with everolimus 10mg daily until disease progression. Most patients with PJS have an inherited LKB1 mutation leading to aberrant m-TOR activity. Their risk to develop malignancies or intestinal polyps is probably related to this constitutive mTOR signaling. The hypothesis is that mTOR inhibition is an effective anticancer treatment in PJS patients with advanced malignancies.


Eligibility: Tow cohorts of PJS patients will be included. Cohort 1: Advanced malignancy Cohort 2: High risk polyps
  General inclusion criteria:
  1. Known Peutz-Jeghers disease (with LKB1 mutation)
  2. No concurrent systemic anti cancer treatment
  3. No prior treatment with m-TOR inhibitor
  4. Prior malignancies or concurrent second malignancies are allowed
  5. Prior systemic therapy is permitted with a washout time of at least 4 weeks
  6. ECOG/ WHO performance 0-2
  7. Age > 18 years
  8. Adequate renal function (defined as creatinine < 150 μmol/L)
  9. Adequate liver function (bilirubin < 1.5 times upper limit of normal, ALAT or ASAT < 5.0 times upper limit of normal in case of liver metastases and < 2.5 the upper limit of normal in absence of liver metastases
  10. Adequate bone marrow function (WBC > 3.0 x 10 9/L, platelets > 100 x 10 9/L)
  11. Absence of any psychological, familial, sociological or geographical condition potentially hampering compliance with the study protocol and follow-up schedule; those conditions should be discussed with the patient before registration in the trial.
  12. No pregnancy or lactating and ifof childbearing potential patients must agree to use a reliable contraceptive method throughout the study
  13. No serious concomitant systemic disorder that would compromise the safety of the patient,at the discretion of the investigator
  14. Signed informed consent according to ICH/GCP.
  15. No uncontrolled symptomatic hyperglycaemia
  Specific inclusion criteria for cohort 1:
  1. Cytological or histological confirmed carcinoma
  2. Metastatic or non-resectable disease
  3. Patients with clinically and/or radiographically documented measurable lesion according to
  RECIST criteria:
  1. X-ray, physical exam > 20 mm
  2. Spiral CT scan > 10 mm
  3. Non-spiral CT scan > 20 mm
  Specific inclusion criteria for cohort 2:
  1. Known high risk polyps (definition see page 19)
  2. Ability to undergo endoscopies
  Specific Exclusion criteria:
  Symptomatic PJ-polyps, defined as polyps likely to be responsible/causal for the abdominal symptoms the patient presents with.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Investigational Study of Oral Fish Oil in Treating Parenteral Nutrition Associated Liver Disease

Summary: The purpose of this study is to investigate the usefulness of oral fish oil(Lovaza)in normalizing liver function in patients who have parenteral nutrition associated liver disease. The investigators believe that patients who take oral fish oil will normalize liver function faster than those who do not

Detailed description: This is designed as a randomized placebo controlled trial of oral fish oil (Lovaza) in normalizing parenteral nutrition associated liver disease.

Eligibility: Inclusion Criteria:
  -  History of parenteral nutrition(PN)administration >4weeks
  -  PN associated liver disease from intestinal failure
  -  ability to take full enteral feed
  -  body weight equal or greater than 3kg
  -  elevated ALT level twice of that normal(ALT>84)at the time PN is weaned off
  Exclusion Criteria:
  -  Hemodynamic instability
  -  renal failure
  -  suspected congenital obstruction of the hepatobiliary system
  -  diagnosis hepatitis A, B, or C
  -  diagnosis of alpha 1-antitrypsin deficiency
  -  diagnosis of cytomegalovirus infection
  -  diagnosis of HIV
  -  children in care

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Preliminary Efficacy and Safety Study of Oral Nepadutant in Infant Colic

Summary: This phase IIa study is designed as a multi-centre, multinational, randomised, double-blind, placebo controlled study in three parallel groups, with the aim to evaluate the efficacy and safety of Nepadutant given at two oral doses once daily for seven days in comparison to placebo in the treatment of infantile colic.

Detailed description: Infant colic is a functional gastrointestinal disorders which affects up to the 30% of the infant population; it is primarily characterised by excessive inconsolable crying starting without any apparent cause and lasting for several hours per day.
  Current non pharmacological interventions (e.g. message, restriction in maternal diet in breast-feeding infants) and pharmacological treatments (simethicone, antimuscarinic drugs) are largely unsatisfactory.
  In animal models, Nepadutant reverse the exaggerated intestinal motility and sensitivity, induced by different stimuli, without producing inhibitory effects on these functions at baseline, suggesting that Nepadutant could have a therapeutic effect with no interference on physiological gastrointestinal transit.
  This phase IIa study is designed to evaluate the efficacy of Nepadutant paediatric oral solution given once daily at two doses in comparison to placebo.
  The experimental clinical phase encompasses the following periods:
  -  Screening period (no study medication) to be done 7 to 4 days prior to randomisation
  -  Treatment period, lasting seven days with once daily administration
  -  Post treatment period, lasting seven days A safety follow-up visit will be performed approximately 1 month after the first administered dose.

Eligibility: Inclusion Criteria:
  -  Healthy infants with diagnosis of infant colic according to the following modified Wessel criterion "paroxysm of irritability, fussing or crying that start and stop without obvious cause for >3h/day, >3 days/week for one week"
  -  Age > 4 weeks and < 20 weeks
  -  Infants breast-fed mixed fed or formula fed with a stable dietary regimen
  -  Normal growth
  -  History of no adequate response to conventional treatment alternatives which make the infants in need of medical treatment
  -  Willingness to refrain from use of antimuscarinic drugs, simethicone, dimethicone or antiacids during the study period.
  Exclusion Criteria:
  -  Clinical evidence of allergies or other diseases which may cause crying and/or fussiness or may interfere with absorption or clearance of the drug.
  -  Suspect of gastroesophageal reflux disease (GERD)
  -  Suspect of cow milk allergy.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: WB-DWI for Early Prediction of Therapy Response in Patients With Advanced Metastatic GIST Treated With Regorafenib

Summary: The purpose of this study is to evaluate WB DWI as early predictor of response to treatment with regorafenib or placebo in patients with advanced metastatic GIST.

Detailed description: Aim of the study
  - To assess whole body diffusion-weighted magnetic resonance imaging (WB-DWI) for the assessment and early prediction of response of treatment with regorafenib or placebo in patients with advanced, metastatic gastro-intestinal stromal tumors (GIST)
  1. Evaluation of pretreatment apparent diffusion coefficient (ADC) and b1000 signal intensity (SI) of GIST visualized on the WB-DWI as predictor of time to progression, determined by progression-free survival (PFS)
  2. Evaluation of WB-DWI using changes of high b-value SI and ADC early during treatment (2weeks after start of therapy; allowed optimal window 10-14 days) as early predictor of time to progression or patient benefit according to RECIST (stable disease + partial response + complete response)
  3. Evaluation of WB-DWI for treatment follow-up 3 months after initiation of treatment. Confirmation of prior published pilot study (Dunet V et al, J Nucl Med 2010)
  4. Comparison of WB-DWI with conventional CT imaging for response assessment

Eligibility: Inclusion Criteria:
  -  patients with advanced, metastatic gastro-intestinal stromal tumors treated with regorafenib or placebo
  Exclusion Criteria:
  -  in case of a known contraindication for MRI (eg. pacemaker), the patient will not be admitted to the study

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: The Effects of Inhaled Iloprost on Congenital Heart Disease With Eisenmenger Syndrome

Summary: Identification of the pathophysiology associated with Eisenmenger's syndrome has led to the evaluation of targeted therapies. Iloprost, a prostacyclin analogue, is one such targeted therapy used in patients with Eisenmenger's syndrome. The purpose of our study is to assess the effects of inhaled iloprost on patients with Eisenmenger's syndrome.


Eligibility: Inclusion Criteria:
  -  patients with Eisenmenger's syndrome diagnosed by right side cardiac catheterization
  Exclusion Criteria:

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Safety, Pharmacokinetics and Pharmacodynamics of BEZ235 Plus MEK162 in Selected Advanced Solid Tumor Patients

Summary: This is an open label, dose finding, phase Ib clinical trial to determine the maximum tolerated dose (MTD) and/or RP2D of the orally administered PI3K/mTOR inhibitor BEZ235 in combination with the MEK1/2 inhibitor MEK162. This combination will be explored in patients with EGFR mutant NSCLC which has progressed on EGFR inhibitors and triple negative breast cancer, as well as pancreatic cancer, colorectal cancer, malignant melanoma, NSCLC, and other advanced solid tumors with KRAS, NRAS, and/or BRAF mutations. Dose escalation will be guided by a Bayesian logistic regression model with overdose control. At MTD or RP2D, two expansion arms will be opened in order to further assess safety and preliminary anti-tumor activity of the combination of BEZ235 and MEK162.
  Study drugs will be administered orally on a continuous schedule, MEK162 bid and BEZ235 qd, a treatment cycle is defined as 28 days.


Eligibility: Inclusion Criteria:
  -  histologically/cytologically confirmed, advanced non resectable solid tumors
  -  Measurable or non-measurable, but evaluable disease as determined by RECIST 1.0
  Exclusion Criteria:
  -  Patients with primary CNS tumor or CNS tumor involvement
  -  Diabetes mellitus - Unacceptable ocular/retinal conditions
  Other protocol-defined inclusion/exclusion criteria may apply

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols

Summary: Background:
  - The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or your family.
  Objective:
  -To allow for exomic or genomic sequencing of NICHD patients or family members in order to identify changes in genes that cause or contribute to a specific disease.
  Eligibility:
  -  Children who are enrolled in an NICHD clinical study where the condition being studied may have a genetic cause.
  -  Family members of a child who is eligible for this study.
  Design:
  -  Children and family members will supply DNA samples. If the samples are already available, no further DNA will be needed.
  -  If DNA is not available, samples of either blood or skin will be taken.
  -  We will use these samples with new DNA sequencing technology that looks at all the human genes we know about. This is known as exome and genome sequencing.

Detailed description: Over the last few years advancements in DNA sequencing technology have progressed significantly. It now is feasible and economical to sequence the exome (known genes) or the entire genome. This technological advance can be applied to identifying genetic causes of rare diseases where traditional methods such as mapping frequently failed due to insufficient number of cases. These cases often present themselves in the context of other NICHD research protocols, such as teaching protocols, where it would not be efficient for the individual investigators to write a new protocol. It will also serve to standardize the consent document across NICHD for investigators that do not include exomic/genomic sequencing in their own protocol.

Eligibility: -  INCLUSION CRITERIA:
  1. Proband s that are enrolled in an NICHD clinical protocol for which there is a suspicion of an underlying genetic cause for a disease for which they are being evaluated.
  2. Family members of a proband who is eligible for this protocol.
  EXCLUSION CRITERIA:
  1. Normal volunteers unrelated to a proband with the disease of interest.

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Gait Parameters of Persons With Down Syndrome With and Without Orthotics Using GaitRite

Summary: This is a research study of persons with Down Syndrome between 2 and 80 years old who are independently walking. The purpose of this study is to see what effect orthotics have on how people with Down Syndrome walk.


Eligibility: Inclusion Criteria:
  -  Down Syndrome, independent walkers
  Exclusion Criteria:
  -  Down Syndrome, not independently walking

Relevance to patient case: not relevant
Patient case: 11-year-old male with Peutz-Jeghers syndrome; genetic feature: STK11

Clinical trial: Role of PACAP in Nehprotic Syndrome

Summary: This study will identify the role of PACAP (pituitary adenylate cyclase-activating polypeptide) deficiency in patients with nephrotic syndrome. PACAP is a neuropeptide that has a putative role as an inhibitor of megakaryopoiesis and platelet function. Patients with nephrotic syndrome show decreased PACAP plasma levels, due to urinary loss. We hypothesize that in severe nephrotic syndrome, plasma deficiency of PACAP enhances megakaryopoiesis and causes blood platelet activation, which contribute to the increased rate of thromboembolic disease in these patients.
  To test our hypothesis, the role of PACAP deficiency on pro-thrombotic state in patients with nephrotic syndrome will be studied using patient blood and urine samples.


Eligibility: Inclusion Criteria:
  -  New patient with nephrotic syndrome of patient during relapse of nephrotic syndrome
  -  Under 16 years old
  -  Treatment for nephrotic syndrome not yet started by first sample collection
  Exclusion Criteria:
  -  None

Relevance to patient case: not relevant