araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: PTC299 for Treatment of Neurofibromatosis Type 2

Summary: Formation of new blood vessels (angiogenesis) is important for tumor growth in neurofibromatosis type 2 (NF2). It is known that tumors make a protein called vascular endothelial growth factor (VEGF) and there are higher levels of VEGF in the tumors and blood of many patients with NF2. VEGF stimulates the formation of blood vessels that supply the tumor with nutrients and oxygen. PTC299 is an oral drug that has been shown to decrease production of VEGF in animal models of human cancer. In these animal models, oral PTC299 administration decreases VEGF levels in the tumor and in the bloodstream, decreases blood vessel numbers in the tumor, and significantly slows or halts tumor growth. Safety studies in research animals indicate good tolerability at doses and drug levels that are higher than those planned for the clinical studies. Results from Phase 1a studies in healthy volunteers indicate that PTC299 achieves levels of PTC299 in the bloodstream that are known to be active in animal models of human tumor. This Phase 2 study is designed to test the hypothesis that PTC299 will be tolerable and will show evidence of VEGF reduction, antitumor activity, and hearing improvement when administered orally to patients with NF2.

Detailed description: The study will be conducted in 2 stages. In Stage 1 of the study, 11 patients will receive daily treatment with PTC299 administered at 100 mg/dose twice per day for up to 1 year or until tumor progression. If no subject responds with tumor shrinkage or an improvement in hearing, then the study will be stopped. If ≥1 out of 11 subjects respond, then the study will proceed to Stage 2 to enroll an additional 14 subjects for a total of 25 subjects.

Eligibility: Inclusion Criteria:
  -  Age ≥18 years
  -  Diagnosis of NF2
  -  Presence of vestibular schwannomas
  -  Evidence of progressive increase in vestibular schwannoma size or worsening hearing loss due to vestibular schwannoma
  -  Adequate functional status (Karnofsky Performance Score ≥60)
  -  Adequate bone marrow, liver, kidney function
  -  If sexually active, willingness to use effective barrier or medical contraception
  -  For women of childbearing potential, no pregnancy or breast-feeding
  -  Discontinuation of other therapies (except corticosteroids) for the treatment of NF2 and resolution of any acute toxic effects of prior therapies
  -  Willingness and ability to comply with scheduled visits, drug administration plan, laboratory tests, other study procedures, and study restrictions
  -  Willingness to provide informed consent
  Exclusion Criteria:
  -  Uncontrolled hypertension, major bleeding, HIV infection, or recent acute cardiovascular event
  -  Prior exposure to another anti-angiogenic therapy (eg, bevacizumab, sunitinib)

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: First Clinical Study of Erbium - Yttrium Aluminium Garnet (YAG) Laser Vaporization of Cutaneous Neurofibromas

Summary: The purpose of this study is to determine whether multiple cutaneous neurofibromas in patients with neurofibromatosis type 1 can be removed with an erbium-YAG-laser.

Detailed description: With a prevalence of 1 in 3-5000 births, neurofibromatosis Type I is one of the most common genetic defects. The mode of inheritance is autosomal dominant and affects a gene (NF1), which is responsible for the production of the tumor suppressor protein neurofibromin. The consequence is an uninhibited expansion of neural tissue which leads amongst others to cosmetic disfigurement of the patients. In comparison to the plexiform neurofibromas the cutaneous tumors do not undergo malignant transformation.
  Excision and CO2 laser vaporisation were established as standard treatment but cause unattractive scars.
  In one operation more than 500 neurofibromas can be removed with an Erbium: YAG laser (2940 nm). The tumors are dissected by shooting holes into the skin and vaporising the neurofibromas in-between or underneath. Specimen are harvested after Er: YAG-, CO2 - and electrosurgical treatment to evaluate the difference of thermal necrosis histologically and photographs are taken to assess the cosmetic results.

Eligibility: Inclusion Criteria:
  -  Patients with multiple cutaneous neurofibromas with the request for tumor removal
  Exclusion Criteria:
  -  Pregnancy

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Study of Tumor Tissue From Patients With Melanoma Treated on Clinical Trial EST-1690

Summary: RATIONALE: Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer. It may also help doctors predict how patients will respond to treatment.
  PURPOSE: This research study is looking at tumor tissue samples from patients with melanoma treated on clinical trial EST-1690.

Detailed description: OBJECTIVES:
  -  To validate the prognostic role of several biomarkers suggested by gene expression profiling and tissue microarray (TMA) studies (e.g., NCOA3, SPP1, and RGS1) on the outcome associated with melanoma in the EST-1690 cohort using IHC analysis.
  -  To examine the potential predictive role of such biomarkers in patients undergoing adjuvant interferon alfa therapy.
  -  To analyze the correlation between the intensity of biomarker expression and survival of this cohort both in the observation and in the interferon-treated groups.
  -  To examine the prognostic role of these biomarkers on the outcome associated with melanoma in the EST-1690 cohort using quantitative-PCR.
  -  To isolate RNA from the primary specimens from patients enrolled in the EST-1690 cohort to assess the expression of genes suggested by cDNA microarray and IHC analyses (e.g., NCOA3, SPP1, and RGS1) as prognostic or predictive markers.
  OUTLINE: Samples from the EST-1690 cohort are obtained and analyzed for several biomarkers (i.e., NCOA3, SPP1, and RGS1) via immunohistochemistry and quantitative PCR. RNA is isolated from the specimens to assess gene expression via quantitative PCR.

Eligibility: DISEASE CHARACTERISTICS:
  -  Diagnosis of melanoma
  -  No metastatic disease at diagnosis
  -  Treated on protocol EST-1690
  -  Primary tumor tissue specimens available
  PATIENT CHARACTERISTICS:
  -  Not specified
  PRIOR CONCURRENT THERAPY:
  -  See Disease Characteristics

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Study of Tumor Samples in Patients Undergoing Radiation Therapy or Surgery For Primary Melanoma of the Eye

Summary: RATIONALE: Studying samples of tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
  PURPOSE: This clinical trial is studying tumor samples in patients undergoing surgery or radiation therapy for primary melanoma of the eye.

Detailed description: OBJECTIVES:
  Primary
  -  To establish the feasibility of using fine needle aspiration (FNA) and FISH to determine tumor genotype in patients with primary uveal melanoma.
  Secondary
  -  To characterize ophthalmic complication rate of FNA for FISH analysis in patients undergoing plaque radiotherapy.
  -  To estimate disease-free survival in patients with and without tumor monosomy 3 and/or 8q amplification.
  -  To explore the relationship between tumor monosomy 3 and 8q amplification and plasma levels of tumor immune escape and invasion biomarkers (e.g., circulating granulysin, beta2-microglobulin, autotoxin, lysophosphatidic acid, matrix metalloproteinase-7, tissue inhibitor of matrix metalloproteinase, and soluble E- cadherin).
  -  To explore the psychological impact of prognostication in uveal melanoma.
  OUTLINE: Patients undergo plaque radiotherapy, enucleation, or tumor resection based upon standard of care guidelines.
  Trans-scleral fine needle aspiration (FNA) is performed at the time of plaque radiotherapy and ex vivo FNA is performed on enucleation and tumor resection specimens. Tissue samples are analyzed by fluorescence in situ hybridization (FISH). Blood samples are also collected for further analysis.
  After completion of study therapy, patients are followed up periodically.

Eligibility: Inclusion Criteria
  -  Patients must have a clinical diagnosis of melanoma of the iris, ciliary body and/or choroids
  -  Patients must have had a hepatic ultrasound and/or other suitable imaging studies to eliminate metastatic disease
  -  Patients must not have received any local or systemic therapy for uveal melanoma
  -  All patients must be informed of the investigational nature of this study and must provide written informed consent in accordance with institutional and federal guidelines. A copy of the informed consent document signed by the patient must be given to the patient
  -  Patients must have the following pretreatment laboratory findings:
  -  Bilirubin (total) </= 1.5 ml/dl
  -  AST </= 2 x normal
  -  ALT </= 2 x normal
  -  Alkaline phosphatase </= 2 x normal
  Exclusion Criteria
  -  Patients with metastasis
  -  Patients under the age of 18

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Transfected Dendritic Cell Based Therapy for Patients With Breast Cancer or Malignant Melanoma

Summary: The primary aim of this study is to evaluate the toxicity of the vaccine and the combination of the vaccine and Cyclophosphamide, and to evaluate the immune response induced by the vaccine. The secondary aim is to investigate the clinical tumour response and duration of tumour and immune response.

Detailed description: Phase I trial. Single center study; patients will be referred to the study center from other institutions in Denmark. 14 patients will be included in this phase I trial DC vaccination regime consists of primary 6 biweekly intradermal injections with transfected dendritic cells, followed by monthly injections until progression; Cyclophosphamide is used as vaccine adjuvant.
  Defined procedures are employed for generation of autologous dendritic cells for clinical application in a classified laboratory. Unmobilized leukapheresis will be used for isolation of large-scale mononuclear cells, and dendritic cells will be generated from monocytes by cytokine stimulation and transfected with mRNA encoding for hTERT, survivin and p53 if the tumour express p53. Frozen preparations of dendritic cells will be prepared using automated cryopreservation. Each patient will receive a minimum of 1x106 dendritic cells per treatment supplemented with Cyclophosphamide 50 mg twice a day every second week. Toxicity including autoimmunity will be evaluated using the Common Toxicity Criteria (CTC).

Eligibility: Inclusion Criteria:
  1. Histological verified metastatic breast cancer or malignant melanoma, in progression
  2. ≥ 18 years
  3. the patient must be habil
  4. Performance status ≤ 1 on Zubrod-ECOG-WHO-scale
  5. Leukocytes and platelets must be ≥normal. Hg ≥ 6.0
  6. creatinin must be normal
  7. Liverparametre <2.5 x normal. Bilirubin <30
  8. Expected survival > 3 months
  9. Informed consent
  11. At least one measurable lesion according to RECIST criteria.
  Exclusion Criteria:
  1. Indication for chemotherapy
  2. Other malignancies
  3. Brain metastases
  4. severe medical condition
  5. Acute/chronic infection with ex. HIV, hepatitis, tuberculose
  6. Severe allergy
  7. Autoimmune disease
  8. Other treatment with immune suppressing agents, other anticancer agents or experimental drugs
  9. Uncontrolled hypercalcemia.

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Ultraviolet Light Exposure and Immunosuppression in Cutaneous Melanoma

Summary: This project seeks to understand differences in the serum vitamin D levels and immune status in cutaneous malignant melanoma patients with different UV exposure histories in New Mexico.

Detailed description: It is well established that ultraviolet radiation (UV) exposure is related to the development of melanoma. There is also evidence that immune reactions are altered after UV exposure in the skin (locally) and perhaps throughout the body (systemically). Additionally, while the role of vitamin D and melanoma development has not been fully established, UV-B exposure is essential for vitamin D production in the skin. Increased sun exposure is also related to the presence of solar elastosis, which might protect (1) or improve survival from melanoma. Thus, melanoma represents a unique model for studying UV exposure, the immune system, and vitamin D. Malignant melanoma is an antigenic cancer; therefore, the role of UV exposure-induced immunosuppression and vitamin D production in the recognition, destruction and growth inhibition of cancerous melanocytes is worth further study.
  To underscore the importance of this project, the Scientific Advisory Committee of the Melanoma Research Foundation and the Steering Committee of the Society of Melanoma Research have indicated a need to collect more human data on the host immune response mechanisms in melanoma and also to focus on the skin as a whole microenvironment, moving away from only in vitro experiments.

Eligibility: Inclusion Criteria:
  -  Resident of New Mexico
  -  Age between the 1 and 95
  -  Newly diagnosed with cutaneous invasive melanoma; any stage permitted (ICDO C44.0-9) between September 1, 2008 and December 31, 2011.
  -  SSM (superficial spreading melanoma) and NM (nodular melanoma) histological subtypes are allowed
  -  Access to a telephone or be able to participate in a personal interview at the clinic
  -  Physically and mentally competent to complete a 1-hour telephone or personal interview
  Exclusion Criteria:
  -  Ocular melanoma, LMM (lentigo maligna melanoma) or ALM (acral lentigo melanoma), and mucosal melanoma cases.
  -  No access to a telephone or is not able to meet with the interviewer.

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Efficacy and Safety Study of PEG-rIL-29 Plus Ribavirin to Treat Chronic Hepatitis C Virus Infection

Summary: Interleukin 29 (IL-29) is a substance that is produced in the body to help fight viral infections. The purpose of this study is to evaluate the safety and antiviral effects of several different doses of PEG-rIL-29 (a man-made form of IL-29) when it is given in combination with daily oral doses of ribavirin (an antiviral drug) to subjects with hepatitis C infection who have received no prior treatment for this disease.

Detailed description: PEG-rIL-29 (also known as PEG-interferon lambda) is a unique Type III interferon molecule that has demonstrated antiviral activity when administered weekly for 4 weeks to treatment-relapsed and treatment-naive subjects with genotype 1 hepatitis C virus (HCV) infection. Because PEG-rIL-29 binds to a unique receptor with a more limited distribution than the receptor for interferon (IFN)-α, it may have the potential to treat HCV without some of the treatment-limiting side effects associated with IFN-α-based therapies. The purpose of this Phase 2a/b randomized, controlled, multicenter study is to compare the safety and efficacy of PEG-rIL-29 and peginterferon alfa-2a, both administered subcutaneously weekly for up to 48 weeks in combination with daily oral ribavirin, in treatment-naive subjects with chronic genotype 1, 2, 3, or 4 HCV infection. The initial part of the study (Phase 2a) will be conducted as an open-label study; the second part of the study (Phase 2b) will be conducted as a blinded study. The above information provided in this listing is specific to the Phase 2b portion of the study. In addition, two small open-label substudies will be conducted to evaluate the efficacy of 24-week treatment with PEG-rIL-29 and ribavirin in subjects with HCV genotype 1 who have a particular genetic polymorphism associated with favorable response (n=60) and to evaluate the efficacy of 16-week treatment with PEG-rIL-29 and ribavirin in subjects with HCV genotype 2 or 3 (n=30).

Eligibility: Inclusion Criteria:
  -  No prior therapy for chronic HCV, other than up to 2 weeks of single-agent therapy with a direct-acting antiviral agent, including but not limited to, a protease or polymerase inhibitor
  -  HCV genotype 1, 2, 3, or 4
  -  HCV RNA ≥100,000 IU/mL
  -  ALT and AST ≤5.0 × ULN
  -  Documented absence of cirrhosis
  -  Able to comprehend the investigational nature of this study and sign an informed consent form
  Exclusion Criteria:
  -  Mixed genotype HCV infection
  -  Current or prior history of decompensated liver disease
  -  Received any investigational drug, including a direct-acting antiviral agent, within 60 days prior to receiving study drug
  -  Positive test for hepatitis B surface antigen, human immunodeficiency virus (HIV)-1, or HIV2 antibody at screening
  -  Active substance abuse, such as alcohol, or inhaled or injected drugs, within 6 months
  Additional inclusion and exclusion criteria are specified in the protocol.

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Study of BMS-650032 With Peginterferon Alfa-2a Plus Ribavirin

Summary: The purpose of this study is to identify one or more doses of BMS-650032 that, when used in combination with pegylated-interferon alpha and ribavirin are safe and demonstrate sufficient activity against hepatitis C virus (Genotypes 1 and 4).


Eligibility: Inclusion Criteria:
  -  Subjects chronically infected with HCV genotype 1 (Phase 2a and Phase 2b)
  -  Subjects chronically infected with HCV genotype 4 (Phase 2b only)
  -  HCV RNA viral load of ≥ 10*5* IU/mL at screening
  -  BMI of 18 - 35 kg/m² at screening
  Exclusion Criteria:
  -  Cirrhosis (Phase 2a only)
  -  Decompensated cirrhosis (Phase 2b)
  -  Co-infection with HBV or HIV
  -  Hepatocellular carcinoma
  -  Prior treatment with anti-HCV drugs

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1)

Summary: This study is a prospective, randomized, double-blind, placebo-controlled evaluation of the safety of a topically applied formulation of rapamycin to cutaneous fibromatous lesions in subjects with Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1). Subjects will apply either a Polyvinylidene fluoride (PVDF) coating (Skincerity) containing rapamycin or the PVDF coating alone nightly to fibromatous lesions for a duration of six months.
  The primary goal of this study is to evaluate the safety of the topical product in patients with TSC and NF1. The secondary goal of this study is to evaluate the effectiveness of the topical product for treatment of cutaneous fibromatous lesions.


Eligibility: Inclusion Criteria:
  -  Subject is willing and able to comply with all trial requirements
  -  Subject is male or female and over 13 years of age
  -  Subject has a diagnosis of either TSC or NF1 and has visible fibromatous lesions (angiofibromas or neurofibromas)
  -  Female subjects of child-bearing potential must not be pregnant and must agree to use appropriate contraceptive methods for the duration of the trial
  Exclusion Criteria:
  -  Subject is currently receiving therapy with rapamycin or sirolimus
  -  Subject is receiving any form of immunosuppression or has previously experienced immune dysfunction
  -  Subject is currently participating in or has participated within the last 30 days in any clinical trial involving an investigational drug
  -  Subject has a known hypersensitivity to either the PVDF coating (Skincerity®) or rapamycin
  -  Subject is a pregnant or nursing female

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: An Asian Study to Assess the Properties and Profile of Ticagrelor in Patients With Stable Coronary Artery Disease

Summary: The purpose of the study is to determine the drug characteristics of Ticagrelor, and to determine if 4 weeks treatment will reduce the blood clotting.


Eligibility: Inclusion Criteria:
  -  Any Percutaneous Coronary Intervention, more than 3 months prior to randomization
  -  Previous documented acute coronary syndrome (ACS), more than 3 months prior to randomisation
  -  Treatment with ASA
  Exclusion Criteria:
  -  ACS, transient ischemic attack (TIA), or Stroke within the 3 months prior to randomisation
  -  Known concurrent disease of stroke or TIA with atrial fibrillation
  -  Persons who are being treated with blood clotting agents that cannot be stopped

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Truncated and Extended Forms of Amyloid Beta Peptides in Alzheimer's Disease: Genesis, Toxicity and Identification as Biological Markers

Summary: Beta amyloid immunoreactivity is probably due to a significant number of Ab catabolites corresponding to N-terminally truncated and Cterminally truncated or extended forms which display distinct propensity to aggregation. Very few things are known concerning the mechanisms and proteases by which they are generated. Furthermore, the link between truncation and toxicity has not been delineated.
  Finally, little is known concerning Ab fragments in biological fluids and whether they could be seen as early biomarkers and thereby, as putative targets for AD diagnostic. The present project will allow to examine the human biological samples and to identify various cohorts after complete clinical evaluation.


Eligibility: Inclusion Criteria:
  -  1) Coming subjects to see patients in CMRR for a complaint mnésique 2) Introducing a score in Tiny Mental the upper Test (MMSE) in 28/30 without error in under score of the recall of the 3 words 3) Introducing a score of 10/10 in the test of the 5 words of B2C 4) Introducing a score in the ladder CDR (Clinical Dementia Rating) equal to 0 5) Having given a lit consent 6) Being affiliated member or beneficiary of the regime of French national health and pensions organization
  Exclusion Criteria:
  -  Major, all the vulnerable persons under 18 under tutelage, under legal guardianship, deprived of freedom, hospitalized in a health Establishment or social for quite other reason that searches it
  -  Record of neurological or psychiatric pathology and inability for sensory reasons to perform a cognitive balance sheet

Relevance to patient case: not relevant
Patient case: 70-year-old male with melanoma; genetic feature: NF1 truncation

Clinical trial: Non Pharmacological Treatment in Alzheimer's Disease and Associated Disorders

Summary: The STIM-EHPAD study (for stimulation in nursing home) aims to evaluate the short and medium term effectiveness of staff education as a non-pharmacological intervention to manage apathy in older people with a diagnosis of dementia.
  -  Primary efficacy criteria: Apathy Inventory clinician score changes
  -  Secondary efficacy criteria: Apathy Inventory patient and caregiver version changes, Observation scale changes, frequency and severity of the other BPSD using the NPI, qualitative analysis of the nursing home staff behavioural changes


Eligibility: Inclusion Criteria:
  -  Patients older than 65 years
  -  A diagnosis of dementia according to the ICD 10 criteria
  -  MMSE score ≤ 24
  -  Presenting the diagnostic criteria of apathy (cf page ??)
  -  An Apathy Inventory clinician total score >3 (with at least a score higher than 1 at one of the 3 dimensions; lack of initiative, lack of interest, emotional blunting)
  Exclusion Criteria:
  -  Patients more than 65 years
  -  MMSE score > 24

Relevance to patient case: not relevant