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

Clinical trial: A Clinical Trial to Compare The Pharmacokinetics of A Pregabalin GLARS-NF1 Tablet 150mg With Immediate Release Formulation and to Assess The Effect of High Fat Diet in Healthy Male Subjects

Summary: The purpose of this clinical trial is to compare the pharmacokinetic characteristics of GLA5PR GLARS tablet 150mg and Lyrica Capsule 75mg.
  GLA5PR GLARS tablet 150mg is a New Formulation which is made by GL Pharm Tech.
  GLARS(Geometrically Long Absorption Regulated System) is New Solution to Sustained Absorption by Extending the Absorption Site.
  To overcome the shortcomings of the currently existing sustained release drug delivery technologies the investigators have recently developed a novel drug delivery system to enable a drug to be dissolved irrespective of the surrounding environment and further absorbed up to colon. The investigators coined this "Geometrically Long Absorption Regulated System(GLARS)".

Detailed description: Basically, this system is a triple-layered tablet, comprised of upper and lower layers that swell and draw a sufficient amount of water, plus a highly water - soluble middle layer that rapidly draw water into the tablet core simultaneously.
  The water drawn into the tablet (about 3 to 4 times the weight of the tablet itself) functions as an additional media which enables additional and later drug release out of the dosage form. This serves to overcome the shortage of surrounding media that has been reported to be one of the key reasons for mal-absorption of a drug in colon.
  As the middle layer induces a rapid water draw into the tablet core, the penetrated water also diffuses to the upper and lower layers, which makes the tablet to rapidly swell and controls drug release.
  At virtually the same time, the swollen upper and lower layers form to surround a lateral side of the middle layer, which can, in turn, further control drug release.
  This relatively rigid swollen matrix structure makes drug release not affected by surrounding mechanical flux, which can provide relatively consistent in vivo drug release irrespective of degree of gastrointestinal motility.

Eligibility: Inclusion Criteria:
  -  20~45 years old, Healthy Adult Male Subject
  -  17.5~30.5kg/m2(BMI) and ≥ 45kg
  Exclusion Criteria:
  -  SBP ≥ 140mmHg or DBP ≥ 90mmHg

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

Clinical trial: A Randomized, Open-label, Single Dose, Parallel Study to Evaluate the Pharmacokinetics Dose Proportionality of GLA5PR GLARS-NF1 Tablet in Healthy Male Volunteers

Summary: The purpose of this clinical trial is to compare the pharmacokinetic characteristics of GLA5PR GLARS tablet 150mg and Lyrica Capsule 75mg.
  GLA5PR GLARS tablet 150mg is a New Formulation which is made by GL Pharm Tech.
  GLARS(Geometrically Long Absorption Regulated System) is New Solution to Sustained Absorption by Extending the Absorption Site.
  To overcome the shortcomings of the currently existing sustained release drug delivery technologies the investigators have recently developed a novel drug delivery system to enable a drug to be dissolved irrespective of the surrounding environment and further absorbed up to colon. The investigators coined this "Geometrically Long Absorption Regulated System(GLARS)".

Detailed description: Basically, this system is a triple-layered tablet, comprised of upper and lower layers that swell and draw a sufficient amount of water, plus a highly water - soluble middle layer that rapidly draw water into the tablet core simultaneously.
  The water drawn into the tablet (about 3 to 4 times the weight of the tablet itself) functions as an additional media which enables additional and later drug release out of the dosage form. This serves to overcome the shortage of surrounding media that has been reported to be one of the key reasons for mal-absorption of a drug in colon.
  As the middle layer induces a rapid water draw into the tablet core, the penetrated water also diffuses to the upper and lower layers, which makes the tablet to rapidly swell and controls drug release.
  At virtually the same time, the swollen upper and lower layers form to surround a lateral side of the middle layer, which can, in turn, further control drug release.
  This relatively rigid swollen matrix structure makes drug release not affected by surrounding mechanical flux, which can provide relatively consistent in vivo drug release irrespective of degree of gastrointestinal motility.

Eligibility: Inclusion Criteria:
  -  19~45 years old, Healthy Adult Male Subject
  -  17.5~30.5kg/m2(BMI) and ≥ 40kg(Body Weight)
  Exclusion Criteria:
  -  SBP ≥ 140mmHg or DBP ≥ 90mmHg

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

Clinical trial: Automatic Early Melanoma Detection by Ultrahigh Resolution Three Dimensional Optical Coherence Tomography

Summary: The investigators will use optical coherence tomography to detect the ex-vivo tissue image of surgical removed melanoma or other benign pigmented lesions of skin.

Detailed description: The investigators will use an advanced high resolution 3D optical coherence tomography (OCT) technology to observe skin tissue images in ex vivo culture. Parts of melanoma or benign pigmented lesions specimens derived from biopsy or surgical excision specimen will be observed by 3D optical tomography. A tiny tissue fragment of melanoma or benign pigmented lesions will be taken from surgical specimen without interference normal pathological evaluation. The location of melanocytic cells in melanoma or benign tissue fragments will be mapped by the 3D optical coherence tomography (OCT). The 3D optic tomography system utilize a Ce:YAG optical fiber as light source and also combined with confocal microscopy. Taken together, these features made the 3D optic tomography system have very high resolution and suitable for single cell imaging. This study will not interfere with the normal medical practice and had no impact on patient's safety and health. All of the materials will be destroyed once the experiments are done. The enrollment criteria will be dermatological patients who need to surgical intervention.

Eligibility: Inclusion Criteria:
  -  Patients aged older than 20 years old
  -  Patients who had melanoma, melanoma in situ, and/or other benign pigmented lesions,
  -  Patients who had non-melanoma skin cancers (basal cell carcinoma, or squamous cell carcinoma).
  -  Patients who had precancerous skin lesions (Bowen's disease, actinicc keratosis)
  Exclusion Criteria:
  • Pregnant women.

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

Clinical trial: Quality of Life and Surgical Late Effects of Melanoma Treatment

Summary: Health-related Quality of life in Danish stage IB-III cutaneous melanoma patients.

Detailed description: The aim of the PhD-study is to evaluate, in a large cohort of Danish melanoma patients:
  1. Health-related quality of life assessing psychological, physical and social well-being
  2. Physical long term side effects (lymphoedema, scarring and neuropathic pain)
  3. Lymphoedema assessed by clinical examination and DXA scans

Eligibility: Inclusion Criteria:
  -  AJCC stage IB-III cutaneous melanoma patients
  -  At least one year follow-up after melanoma surgery
  Exclusion Criteria:
  -  Pregnancy
  -  Bilateral axilla or groin melanoma surgery

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

Clinical trial: Clinical Research on the Treatments on Advanced Malignant Melanoma by Combining in Situ Immunotherapy and Laser Therapy

Summary: To evaluate the therapeutic efficacy and the safety for the treatments on malignant melanoma by combining semiantigen dinitrophenyl (DNP) in situ immunotherapy and laser therapy, and carry out monitoring on related immunological parameters of the patients.
  72 patients with stage III (b or c) or stage IV skin (which could not be excised by operations) malignant melanoma were treated by combining simple semiantigen DNP in situ immunotherapy and laser therapy respectively. The changes in peripheral blood CD4+CD25+Treg regulatory T cells (Treg), CD8+T, CD4+ T effector cells, IL-10, TGF-β and other inhibitory cytokines of the patients were detected, the changes in anti-DNP IgG antibody titer was monitored, the relationship between delayed-type hypersensitivity (DTH) and survival was observed, and results of clinical follow-ups were also examined.


Eligibility: Inclusion Criteria:
  -  pathologically diagnosed as malignant melanoma, HMB45 (+～++++), S100 (+～++++);
  -  Basically normal hepatic and renal functions as well as results for blood routine examinations;
  -  Karnofsky score ≥ 60;
  -  Anticipated life span for more than three months;
  -  They were all malignant melanoma patients suffering from skin malignant melanoma of local or distal metastasis unsuitable for operations in their skin;
  -  The therapeutic efficacy was objectively evaluated with reference to the criteria from WHO;
  -  All of the subjects had signed the informed consent and had been submitted and approved by the ethic committee of the hospital, the compliance was good and follow-ups can be easily carried out.

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

Clinical trial: Feasibility and Clinically Application of Magnetic Resonance Fingerprinting

Summary: This study will look at the feasibility of using magnetic resonance fingerprinting (MRF) in children, adolescents and young adults (AYA) with and without brain tumors. This study will also look at subjects with and without neurofibromatosis type 1(NF1), a genetic disorder that affects the growth of nervous system cells. Further, it will explore potential ways of using of MRF signal measurements in children, adolescents, and young adults with brain tumors, including tissue characterization, looking at whether the treatment was effective, and finding metastasized tumors of unknown origin (occult tumors). To explore the feasibility and potential applications of MRF, this study will recruit up to 80 subjects but will stop once 10 subjects have usable data in each of six groups.

Detailed description: Specific Aim 1: Demonstrate the feasibility of magnetic resonance fingerprinting (MRF) in children, adolescents and young adults (AYA) with and without brain tumors.
  Specific Aim 2: Characterize the MRF signature of low-grade gliomas
  Specific Aim 3: Determine whether MRF can identify occult tumor in subjects with low-grade glioma.
  Specific Aim 4: Determine whether MRF can identify treatment effects in low-grade gliomas.
  Specific Aim 5: Explore whether common brain tumors can be differentiated by comparing pre-operative MRF signature with pathologic diagnosis.
  Outline: This study will examine the feasibility of MRF in children and AYA and determine whether quantitative measures of T1 and T2 relaxation times can be derived in subjects <35 years of age. Approximately 80 subjects will be evaluated and include subgroups where MRF may be of particular utility, including children and AYA subjects with brain tumors and subjects with neurofibromatosis type 1 (NF1). Additional aims will investigate the utility of MRF in these groups.

Eligibility: Inclusion Criteria:
  -  Subjects undergoing MRI evaluation of the brain
  -  NF1 status will be determined by clinical exam or genetic testing
  -  NF1-associated Optic Pathway Glioma (OPG) will be defined as radiographic evidence of glioma along the optic nerve, chiasm, tract or radiation in a child with NF1
  -  Untreated low grade gliomas will be imaging-defined gliomas that have not yet been exposed to radiation or systemic chemotherapy. Those exposed to therapy will have had radiation and/or systemic chemotherapy more than 1 month prior to scans
  Exclusion Criteria:
  -  History of mental retardation unrelated to brain tumor
  -  Presence of a genetic disorder other than NF1 that effects cognition or is associated with MR imaging abnormalities (e.g. tuberous sclerosis)
  -  History of cerebrovascular accident (stroke)
  -  Birth weight below five pounds, premature birth prior to 36 weeks of gestation, or ischemic episode at birth
  -  Major psychiatric diagnosis prior to neuro-oncological diagnosis

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

Clinical trial: Reading Disability in Children With NF1

Summary: A national, multicenter, randomized, transverse clinical trial, estimating the existence of phonological deficits in children with NF1 children compared with control children without NF1 with the same reading level.

Detailed description: To determine the phonological and visio -spatial performances at the NF1 children.

Eligibility: Inclusion Criteria:
  -  Age included between 8 and 12 years
  -  Child presenting a type 1 neurofibromatosis according to 2 criteria in the following criteria list :
  -  At least 6 café au lait spots
  -  2 or more neurofibromas or 1 plexiform neurofibroma
  -  axillary or inguinal freckling
  -  1 optic nerf glioma
  -  2 or more Lisch nodules
  -  1 osseous lesion as sphenoid dysplasia or thinning of the long bone cortex with or without pseudoarthrosis
  -  1 A first degree relative (parent, sibling, or offspring) with NF1 by the above criteria
  -  Membership in a national insurance
  -  Consent of the child and the parents
  Exclusion Criteria:
  -  Mental retardation (QI T < 70)
  -  Treated or untreated epilepsy
  -  Visual deficit (visual Acuteness < 4/10
  -  Presence of a symptomatic optic glioma
  -  Presence of a brain tumor.

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

Clinical trial: Ipilimumab and All-Trans Retinoic Acid Combination Treatment of Stage IV Melanoma

Summary: The purpose of this study is to assess the safety and efficacy of combined treatment with Ipilimumab and all-trans retinoic acid (ATRA) in melanoma patients.

Detailed description: The successful treatment of melanoma with immune checkpoint inhibitors, such as anti-cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and Programmed cell death protein 1 (PD-1) antibodies, has altered our thinking and approach to immunotherapy for solid tumors. Despite these advances, only a portion of patients experience a durable response suggesting that there is room for improvement via enhanced immunomodulatory approaches. Anti-CTLA-4 (Ipilimumab) significantly improves overall survival and achieves long-lasting complete responses in some melanoma patients, the number of patients that achieve durable clinical benefit is limited and could be improved by a combined immunomodulatory approach. The objectives of this study are to assess the safety and efficacy of combined treatment with Ipilimumab and all-trans retinoic acid (ATRA) in melanoma patients. We hypothesize that combined treatment with Ipilimumab and ATRA will improve patient responses, increase tumor antigen-specific T cell responses, and decrease immunosuppressive myeloid-derived suppressor cells (MDSCs) in melanoma patients compared to patients treated with Ipilimumab alone.

Eligibility: Inclusion Criteria:
  -  Patients over the age of 18 year.
  -  Patients diagnosed with Stage IV melanoma.
  -  Patients that are considered candidates for ipilimumab therapy.
  -  Patients able to understand and willing to sign a written informed consent documents.
  -  Patients willing to have regular blood draws, one before treatment and four during or after treatment.
  Exclusion Criteria:
  -  Patients that have received systemic treatments within four weeks prior to the beginning of treatment.
  -  Women that are pregnant or nursing.
  -  Patients with ocular melanoma.
  -  Patients taking immunosuppressive medications.
  -  Patients with active autoimmune disease.
  -  Patients with known sensitivity to retinoic acid derivatives.

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

Clinical trial: Functional Imaging and Reading Deficit in Children With NF1

Summary: A monocenter pilot study on the acceptability and feasibility of a functional MRI protocol in children with NF1 with or without reading disabilities.

Detailed description: The principal aim of the study is to highlight the activation of brain area involved phonological and visuo-spatial processing in children with NF1 with or without reading disabilities.

Eligibility: Inclusion Criteria:
  -  Age included between 8 and 12 years
  -  Child presenting a type 1 neurofibromatosis according to 2 criteria in the following criteria list :
  -  At least 6 café au lait spots
  -  2 or more neurofibromas or 1 plexiform neurofibroma
  -  axillary or inguinal freckling
  -  1 optic nerf glioma
  -  2 or more Lisch nodules
  -  1 osseous lesion as sphenoid dysplasia or thinning of the long bone cortex with or without pseudarthrosis
  -  1 A first degree relative (parent, sibling, or offspring) with NF1 by the above criteria
  -  Membership in a national insurance
  -  Consent of the child and the parents
  Exclusion Criteria:
  -  Mental retardation (QI T < 70)
  -  Treated or untreated epilepsy
  -  Visual deficit (visual Acuteness < 4/10
  -  Presence of a symptomatic optic glioma
  -  Presence of a brain tumor.

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

Clinical trial: Trial of Vemurafenib and Cobimetinib in Patients With Advanced BRAFV600 Mutant Melanoma

Summary: This trial explores the immunologic effects of vemurafenib (BRAF inhibitor) and cobimetinib (MEK inhibitor), administered alone and in combination, to patients with advanced BRAF V600E/K mutant melanoma.


Eligibility: Inclusion Criteria:
  -  Signed informed consent
  -  Signed HIV testing consent
  -  Life expectancy ≥ 12 weeks
  -  Able to swallow pills
  -  ECOG performance status 2 or less
  -  Adequate bone marrow function
  -  Adequate renal function
  -  Adequate liver function
  -  Negative urine pregnancy test within 7 days prior to commencement of dosing in premenopausal women
  -  Histological diagnosis of unresectable AJCC stage III or stage IV, BRAFV600E/K mutant melanoma
  -  Measurable disease
  -  Accessible tumor that can be biopsied
  -  Naive to targeted therapy (Prior immune-based therapy in the adjuvant setting or for advanced disease will be allowed if >2 weeks from study entry)
  Exclusion Criteria:
  -  Active systemic infection
  -  Active autoimmune disease or history of known or suspected autoimmune disease
  -  Active brain metastases or leptomeningeal metastases
  -  Treatment with any immunomodulatory medication within 4 weeks of initiation of study therapy.
  -  Positive test for hepatitis B virus
  -  Positive test for hepatitis C virus
  -  Positive test for human immunodeficiency virus (HIV)
  -  Pregnant, lactating or breast feeding women
  -  Localized radiation therapy within the last 14 days
  -  History of malabsorption
  -  No consumption of the following within 7 days prior to start of treatment:
  -  St. John's wort or hyperforin (potent cytochrome P450 CYP3A4 enzyme inducer)
  -  Grapefruit juice (potent cytochrome P450 CYP3A4 enzyme inhibitor
  -  History or evidence of cardiovascular risk
  -  History or evidence of retinal pathology

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

Clinical trial: Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With NF

Summary: This is a prospective study through the NF clinic at Massachusetts General Hospital that will examine the relationship between psychosocial factors, health literacy, and satisfaction with the medical visit in adults with NF1, NF2, and Schwannomatosis. A total of 89 participants will be enrolled in the study.


Eligibility: Inclusion Criteria:
  1. Age 18 or older
  2. Can read and speak English at or above the 6th grade level
  3. Diagnosis of neurofibromatosis type 1, neurofibromatosis type 2, or schwannomatosis
  Exclusion Criteria:
  1. Severe active or untreated major mental illness that would interfere with study participation, to be determined at the discretion of the study investigator (e.g. untreated psychosis or suicidality)
  2. Unable or unwilling to participate
  3. Unable or unwilling to complete psychological assessments online via the REDCap or Assessment Center systems.

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

Clinical trial: The Cognitive Variability in NF1 and TSC Monozygotic Twins

Summary: Both Neurofibromatosis type 1 (NF1) and Tuberous Sclerosis Complex (TSC) are highly heterogeneous diseases. Cognitive features seem to vary widely even between family members carrying the same mutation. This phenotypic variability is not well understood, but is generally assumed to be caused by modifier genes which regulate the affected pathways. However, recent studies brought forward an alternative explanation for the phenotypic variability. Post-mortem studies showed that second hit mutations causing loss of the second ('healthy') allele are more widespread than previously believed. These loss of heterozygosity (LOH) mutations cause bi-allelic loss of the disease-linked gene and are known to cause the gross of somatic features in both diseases (like neurofibromas and hamartomas). Hence, it could be the stochastic occurrence of second-hit mutations in the brain are the cause of the variable cognitive phenotypes.
  To investigate to what extent these LOH mutations in the brain contribute to the phenotype and to what extent this variation is due to genetic modifiers factors is unknown. The investigators therefore propose to elucidate this variability by comparing the correlation of cognitive features of monozygotic twins with NF1 or TSC to healthy twins in the population. If modifier genes are the cause of the variability of cognitive features in NF1 and TSC the investigators expect that the variability in cognitive tests in monozygotic twins is the same as monozygotic twins in the healthy population. However, if the variability is caused by the occurrence of LOH mutations, the investigators expect to have a lower correlation in our monozygotic patients compared to the healthy twins.


Eligibility: Inclusion Criteria:
  -  The participant is part of a monozygotic twin pair (which is genetically confirmed);
  -  NF1 or TSC patients with a genetically confirmed diagnosis;
  -  Oral and written informed consent by participant in case ≥ 18 years of age.
  -  Oral and written informed consent by both caregivers and assent by participant in case of minor participants.
  Exclusion Criteria:
  -  A potential subject of whom the twin sibling is not willing or able to participate in this study, will be excluded from participation in this study.
  -  Symptomatic brain pathology.

Relevance to patient case: not relevant