araag2/TREC_Precision-Medicine huggingface dataset:
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Umbilical Cord Blood Transfusion in Progeria Syndrome

Summary: This is a pilot study on safety and efficacy of umbilical cord blood therapy for patients with Hutchinson Gilford Progeria syndrome (HGPS). This is an 1 year trial with 3 IV infusions (4 months apart from each infusion) of umbilical cord blood units with oral Sirolimus to see the safety and efficacy.

Detailed description: This is a pilot study on safety and efficacy of umbilical cord blood therapy for patients with Hutchinson Gilford Progeria syndrome (HGPS). HGPS is a rare genetic disease where affected LMNA gene coding lamin A protein leads to premature aging and early death.
  Teenagers with HGPS are in high risk of atherosclerosis and ischemic stroke, and these are major reason of mortality in HGPS.Currently, there are no definite cure for this rare genetic disease. Among the potential drugs under investigation, Lornafarnib (farnesyltransferase inhibitor) lowered the carotid-femoral pulse wave velocity (cfPWV) and also lowered mortality.
  Stem cell therapy has proven its efficacy in progeria mouse model. We are trying to study safety and efficacy of umbilical cord blood therapy in human HGPS patients.

Eligibility: This is a pilot study including 2 patients with HGPS.
  Inclusion Criteria:
  -  those who were clinically and genetically diagnosed as Hutchinson-Gilford progeria syndrome
  Exclusion Criteria:
  -  those who show definite hemorrhage or ischemia on brain MRI
  -  those who are affected with systemic infection during study enrolling period
  -  those who are not able to able to make consents to the study; those who are not accompanying any guardians
  -  those who were enrolled in other clinical trials within last 30 days
  -  those who are not appropriate according to laboratory criteria
  1. whose ALT/AST > 2 fold of normal limit
  2. whose serum creatinine > 1.5 fold of normal limit
  3. whose total bilirubin > 2 fold of normal limit
  4. whose total WBC count < 3000/mm3
  5. whose platelet count < normal lower limit
  -  those who are diagnosed with other malignancies
  -  those who are affected by other serious medical (cardiopulmonary, gastrointestinal, endocrinologic, etc.) conditions

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

Clinical trial: Prevention of Graft-Versus-Host Disease in Patients With Hematologic Malignancies Who Are Receiving a Bone Marrow Transplant

Summary: RATIONALE: Bone marrow transplantation may be able to replace immune cells that were destroyed by chemotherapy used to kill tumor cells. Sometimes the transplanted cells can make an immune response against the body's normal tissues. Treatment with sirolimus, methotrexate, and cyclosporine may prevent this from happening.
  PURPOSE: Phase I/II trial to study the effectiveness of sirolimus plus methotrexate and cyclosporine in preventing graft-versus-host disease in patients with hematologic malignancies who are receiving a bone marrow transplant.

Detailed description: OBJECTIVES: I. Estimate the maximum tolerated dose of rapamycin that can be safely combined with standard methotrexate/cyclosporine prophylaxis for graft-versus-host disease (GVHD) in patients with hematologic disorders who have received a bone marrow transplant from a related donor who is mismatched for 1 HLA-A, -B, or -DR antigen in the GVHD direction.
  OUTLINE: This is a dose escalation study. Groups of 6-12 patients receive escalating doses of rapamycin until the maximum tolerated dose of rapamycin given in combination with methotrexate/cyclosporine is determined. All patients receive cyclosporine from the day prior to transplant until day 50 post-transplant; the dose is then tapered over 130 days. Methotrexate is given on days 1, 3, and 6 post-transplant. Rapamycin is given every other day, days 7-59. Bone marrow transplantation occurs on day 0. Patients may not receive concurrent therapy with agents that could interfere with rapamycin metabolism, intravenous lipids, FK506 or other immunosuppressive agents (prednisone allowed), NSAIDs, or other cytotoxic agents. Patients are followed at 6 months for 2 years, then annually.
  PROJECTED ACCRUAL: 12-36 patients will be accrued over 1-2.5 years.

Eligibility: DISEASE CHARACTERISTICS: See General Eligibility Criteria
  PATIENT CHARACTERISTICS: Age: 13 and over Performance status: Not specified Hematopoietic: Not specified Hepatic: Not specified Renal: Creatinine no greater than 2.0 mg/dL Cardiovascular: No cardiac disease No clinically significant cardiac abnormality No ischemia No recent injury on EKG Other: No intolerance or unresponsiveness to rapamycin No hypersensitivity to macrolide antibiotics, e.g., erythromycin, azithromycin, clarithromycin No requirement for medications that may significantly affect rapamycin metabolism, i.e.: Carbamazepine Ketoconazole Primidone Cimetidine Nicardipine Rifampin Diltiazem Phenobarbital Valproic acid Erythromycin Phenytoin Verapamil No uncontrolled systemic infection No pregnant or nursing women Negative pregnancy test required of fertile women Effective contraception required of fertile patients during and for 3 months after study Able to tolerate less than 400 mL of liquid oral intake
  PRIOR CONCURRENT THERAPY: At least 1 week since any investigational drug

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

Clinical trial: Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

Summary: OBJECTIVES: I. Identify the molecular defects responsible for primary immunodeficiency disorders.
  II. Explore the mutations within each syndrome to better understand the genetics of these disorders.
  III. Study the function of the Wiskott-Aldrich syndrome proteins (WASP). IV. Design methods to identify carriers and for prenatal diagnosis. V. Explore new avenues for therapy.

Detailed description: PROTOCOL OUTLINE: Patients are studied systematically to determine the extent of their immune deficiency and to confirm a specific diagnosis. Patients with a known immunodeficiency syndrome are studied in detail to identify the gene mutation, to assess the effect of the mutation on the gene product, and to establish cell lines for further in vitro assessment of the genetic defect. The function of Wiskott-Aldrich syndrome proteins (WASP) in hematopoietic cells is studied.
  Family members of patients with X-linked disorders are studied to identify carrier females.

Eligibility: PROTOCOL ENTRY CRITERIA:
  Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome

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

Clinical trial: Study of Hypercortisolism in Cushing's Syndrome and Stress-Induced Pseudo-Cushing's Syndrome

Summary: OBJECTIVES:
  I. Determine whether Cushing's syndrome and stress-induced pseudo-Cushing's syndrome can be differentiated by evaluating endogenous corticotropin-releasing hormone activity.

Detailed description: PROTOCOL OUTLINE: Patients undergo a 30-hour infusion of deuterated cortisol with peripheral and petrosal vein measurements of adrenocorticotropin hormone (ACTH) and corticotropin-releasing hormone (CRH). Patients also have a 2-day, low-dose dexamethasone suppression test.
  Patients with ACTH tumors are referred for pituitary surgery as indicated. Patients without Cushing's syndrome are entered as controls. During scheduled radiologic procedures, these subjects undergo ACTH and CRH sampling from the petrosal vein or cavernous sinus following a deuterated cortisol infusion.

Eligibility: PROTOCOL ENTRY CRITERIA:
  Suspected adrenocorticotropin hormone (ACTH)-dependent Cushing's syndrome No pregnant women Effective contraception required of fertile women

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

Clinical trial: Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome

Summary: OBJECTIVES: I. Examine the intestinal absorption of dietary cholesterol in patients with Smith-Lemli-Opitz syndrome.
  II. Measure the effect of dietary cholesterol on plasma sterol composition. III. Quantify basal cholesterol synthesis, turnover of cholesterol and 7-dehydrocholesterol, and the effects of dietary cholesterol on these parameters.
  IV. Identify fecal bile acid excretion quantitatively and qualitatively in these patients.
  V. Compare the incorporation of deuterated water into plasma cholesterol, 7-dehydrocholesterol, and other intermediates, and assess the effect of dietary cholesterol on this incorporation.

Detailed description: PROTOCOL OUTLINE:
  Patients are treated with 2 dietary regimens for 1 to 3 weeks: high cholesterol and cholesterol-free. Cholesterol is provided in the form of egg yolk. The absorption and metabolism of cholesterol are evaluated with plasma and fecal studies. Deuterated water is given to patients followed by analysis of deuterium in plasma cholesterol and other intermediates, including 7-dehydrocholesterol.

Eligibility: PROTOCOL ENTRY CRITERIA:
  Smith-Lemli-Opitz syndrome

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

Clinical trial: Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

Summary: OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2).
  II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p.
  III. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23.
  IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2.
  V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13.
  VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene.
  VII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.

Detailed description: PROTOCOL OUTLINE: Patients undergo clinical, cytogenetic, and molecular studies. These include radiographic, neurologic, developmental, and 24 hour sleep studies, ophthalmologic, otolaryngologic, speech and language, and audiologic exams, echocardiogram, and renal ultrasound.
  Smith-Magenis patients are also evaluated with the following: urine melatonin levels during day and night hours; anthropometrics; sleep and behavioral history; and renal, immunologic, and cholesterol studies. A clinical and phenotypic map is constructed.
  When appropriate, parental chromosome analysis is performed.

Eligibility: PROTOCOL ENTRY CRITERIA:
  --Disease Characteristics-- Contiguous gene deletion syndrome, e.g.: Smith-Magenis syndrome Williams syndrome DiGeorge syndrome Shprintzen syndrome (velo-cardio-facial syndrome) Prader-Willi syndrome Angelman syndrome Deletion of chromosome 1p Patient age: Any age

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

Clinical trial: Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Summary: OBJECTIVES:
  I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome.
  II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints.
  III. Determine presence of sustained immunologic compromise in older patients.

Detailed description: PROTOCOL OUTLINE:
  Blood samples are collected at diagnosis of chromosome 22q11 deletion and assessed for lymphocyte proliferation in response to mitogens phytohemagglutinin, pokeweed mitogen, and concanavalin A (mitogen stimulation analyses). These analyses are repeated at 4 months along with a quantitative analysis of immunoglobulin.
  At 8 months, patients are tested for their lymphocytes' ability to respond to antigens (candida, tetanus, and diphtheria). At 1 year, patients have lymphocyte subset, IgG, IgA, and IgM analyses performed. Quantitative evaluations of antibody titers to diphtheria, tetanus, Haemophilus influenza, and hepatitis B are also performed.
  Over 1 year of age, all studies are performed if the patient is seen for a single visit.

Eligibility: -  Conotruncal cardiac lesion to be repaired by surgery AND Chromosome 22q11 deletion by FISH

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

Clinical trial: Gemcitabine in Treating Children With Refractory Solid Tumors

Summary: Phase I trial to study the effectiveness of gemcitabine in treating children who have refractory solid tumors. Drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die.

Detailed description: OBJECTIVES:
  I. Estimate the maximum tolerated dose of gemcitabine in children and adolescents with refractory solid tumors.
  II. Assess the toxicity of gemcitabine in this patient population. III. Determine the pharmacokinetic profile of gemcitabine in male and female children and adolescents.
  IV. Assess the antitumor activity of gemcitabine within a phase I study.
  OUTLINE: This is a dose escalation study.
  Patients receive gemcitabine IV over 30 minutes weekly for 2 weeks. Patients achieving objective response or stable disease after 3 weeks may receive additional courses of therapy every 3 weeks in the absence of disease progression or unacceptable toxicity. Cohorts of 3-6 patients receive escalating doses of gemcitabine until the maximum tolerated dose (MTD) is determined. The MTD is defined as the dose preceding that at which 2 of 3 or 2 of 6 patients experience dose limiting toxicity. Patients are followed at week 4 and then every 6 months until death.

Eligibility: DISEASE CHARACTERISTICS:
  -  Histologically confirmed malignant solid tumor Confirmation made at original diagnosis
  -  No bone marrow involvement
  -  Refractory to conventional therapy and other therapies of higher priority according to CCG Phase I/II Priority List
  PATIENT CHARACTERISTICS:
  -  Age: 1 to 21
  -  Performance status: 0-2
  -  Life expectancy: At least 2 months
  -  Absolute neutrophil count at least 1,000/mm3
  -  Platelet count at least 100,000/mm3 (transfusion independent)
  -  Hemoglobin at least 10 g/dL (transfusions allowed)
  -  Bilirubin no greater than 1.5 times normal
  -  AST less than 2.5 times normal
  -  Creatinine no greater than 1.5 times normal OR creatinine clearance or radioisotope GFR at least 70 mL/min
  -  No seizure disorder Not pregnant or nursing
  -  Negative pregnancy test Fertile patients must use effective contraception
  PRIOR CONCURRENT THERAPY:
  -  At least 2 weeks since prior cytokine therapy and recovered
  -  No prior bone marrow transplantation
  -  No more than 3 prior combination or single agent chemotherapy regimens
  -  At least 3 weeks since prior chemotherapy (6 weeks since nitrosoureas) and recovered

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

Clinical trial: Vaccine Therapy and Ganciclovir in Treating Patients With Mesothelioma

Summary: RATIONALE: Ganciclovir may ease some of the side effects of cancer treatment. Vaccines made from a person's modified malignant mesothelioma cells may make the cancer more sensitive to ganciclovir.
  PURPOSE: Phase I trial to study the effectiveness of vaccine therapy plus ganciclovir in treating patients who have stage I, stage II, or stage III malignant mesothelioma.

Detailed description: OBJECTIVES: I. Determine the safety and side effects of intrapleurally administered PA-1-STK modified ovarian carcinoma vaccine and ganciclovir in patients with stage I, II, or III malignant mesothelioma. II. Determine the maximum tolerated dose and dose limiting toxicities of this vaccine in these patients. III. Determine the immunologic response to this treatment regimen in these patients. IV. Determine the intrapleural pharmakokinetics of ganciclovir in these patients.
  OUTLINE: This is a dose escalation study of PA-1-STK modified ovarian carcinoma vaccine. Patients receive PA-1-STK modified ovarian carcinoma vaccine intrapleurally on day 1 followed by ganciclovir IV over 1 hour for 7 days beginning on day 1. Patients in the first 2 cohorts receive 1 course of treatment only. In all subsequent cohorts, treatment repeats every 3 weeks for a total of 3 courses in the absence of disease progression or unacceptable toxicity. Cohorts of 3 patients receive escalating doses of PA-1-STK modified ovarian carcinoma vaccine until the maximum tolerated dose is determined.
  PROJECTED ACCRUAL: A total of 3-16 patients will be accrued for this study.

Eligibility: DISEASE CHARACTERISTICS: Histologically confirmed stage I, II, or III malignant mesothelioma Must have adequate pleural space in which to place chest tube or catheter
  PATIENT CHARACTERISTICS: Age: Not specified Performance status: ECOG 0-1 Life expectancy: Not specified Hematopoietic: Hematocrit greater than 30% WBC greater than 4,000/mm3 Platelet count greater than 100,000/mm3 Hepatic: Bilirubin normal SGOT and alkaline phosphatase less than 1.5 times normal Renal: Creatinine less than 1.5 mg/dL Creatinine clearance greater than 50 mL/min Cardiovascular: No significant history of heart disease No frequent angina No myocardial infarction within the past 6 months No congestive heart failure requiring daily treatment Pulmonary: No evidence of moderate to severe pulmonary disease (i.e., FEV1 less than 40% predicted) Other: No prior malignancy except squamous or basal cell carcinoma of the skin No patients with childbearing potential
  PRIOR CONCURRENT THERAPY: Biologic therapy: Not specified Chemotherapy: At least 6 weeks since prior chemotherapy Endocrine therapy: No concurrent steroid treatment Radiotherapy: At least 6 weeks since prior radiotherapy Surgery: Not specified

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

Clinical trial: Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment

Summary: RATIONALE: Antiemetic drugs, such as ondansetron, may help to reduce or prevent nausea and vomiting in patients with advanced cancer.
  PURPOSE: This randomized phase III trial is studying how well ondansetron works compared to a placebo in treating patients with advanced cancer and chronic nausea and vomiting that is not caused by cancer therapy.

Detailed description: OBJECTIVES: I. Compare the antiemetic effect of ondansetron vs placebo in patients with advanced cancer who suffer from chronic nausea and emesis that is not due to antineoplastic therapy (i.e., chemotherapy, radiotherapy, immunotherapy, biologic therapy). II. Determine the toxicity of ondansetron in these patients. III. Evaluate the use of other concurrent antiemetics in these patients when treated with this regimen.
  OUTLINE: This is a randomized, double blind, placebo controlled, multicenter study. Patients are stratified according to abdominal carcinomatosis (yes vs no), renal insufficiency (creatinine less than 2.0 mg/dL vs creatinine at least 2.0 mg/dL), type of cancer (brain vs gastrointestinal vs other), and narcotic use (yes vs no). Patients are randomized to one of two treatment arms. Arm I: Patients receive oral ondansetron twice daily on days 1-7 and oral placebo twice daily on days 8-14 in the absence of unacceptable toxicity. Arm II: Patients receive oral placebo twice daily on days 1-7 and oral ondansetron twice daily on days 8-14 in the absence of unacceptable toxicity.
  PROJECTED ACCRUAL: A total of 100 patients (50 per arm) will be accrued for this study within 1 year.

Eligibility: DISEASE CHARACTERISTICS: Diagnosis of incurable cancer with chronic nausea and vomiting lasting at least 1 week that is not due to antineoplastic therapy (i.e., chemotherapy, radiotherapy, immunotherapy, biologic therapy) Nausea not adequately controlled by standard antiemetics
  PATIENT CHARACTERISTICS: Cardiovascular: No uncontrolled hypertension Other: Not pregnant or nursing Able to take oral medication (feeding tube allowed) Able to swallow own saliva No prior phenylketonuria No known allergy or intolerance to 5-HT3 receptor antagonists No bowel obstruction
  PRIOR CONCURRENT THERAPY: Biologic therapy: See Disease Characteristics Chemotherapy: See Disease Characteristics At least 2 weeks since prior cytotoxic systemic therapy No concurrent cytotoxic systemic therapy Endocrine therapy: Not specified Radiotherapy: See Disease Characteristics At least 2 weeks since prior radiotherapy to gastrointestinal tract No concurrent radiotherapy to gastrointestinal tract Surgery: Not specified Other: At least 2 weeks since prior 5-HT3 receptor antagonists (i.e., dolasetron, granisetron, or ondansetron) No other concurrent 5-HT3 receptor antagonists Other concurrent antiemetics allowed

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

Clinical trial: Biological Significance of the Bloom's Syndrome Protein

Summary: Since 1960, persons with the very rare disorder Bloom's syndrome (BS) have been followed clinically, documenting clinical matters as obtained from their doctors. This has been a worldwide search for cases, though a few in the New York City area are seen (personally, by us) perhaps once every 2-3 years. BS is a rare genetically-determined disorder described in NYC in 1954. The clinical courses of the 169 persons diagnosed BS by 1991 are followed in a program referred to as the Bloom's Syndrome Registry. BS is the prototype of the "chromosome-breakage syndromes." BS cells mutate at a greater rate than any other, and the consequence is the greatest known predisposition to cancers of the types that affect the general human population. We are defining the clinical syndrome and at the same time are studying cells from affected families in the experimental laboratory. BS is a model for learning about cancer. Our contact with families lets us know of cancers arising, but blood, and sometimes tiny biopsies of skin, is taken if available so that (a) the chromosomes can be studied and (b) the gene mutations can be defined in molecular terms.

Detailed description: Although an occasional person with BS will be admitted to the hospital for special study (endocrine evaluation mainly)--two in the last 25 years--the Registry does not develop a doctor/patient relationship with affected persons. They have their own doctors. We gather information about the affected persons and publish reports. We also publish reports of experiments carried out in the research laboratory using BS cells. Because we are a central repository for information on BS, families or their physicians find contact with us beneficial, and we provide them with information requested. Sometimes pregnancies at risk occur, and we have on occasion made cytogenic (chromosome) analysis of cultured cells of amniotic fluid (the cultures being initiated elsewhere and sent to us for cytogenetic study).
  Although the accessioning of new cases to the Registry was closed in 1991, 4-5 new patients are referred to us each year, and their clinical courses also are being followed. To date, the 169 officially registered and 36 additional cases are under our surveillance.

Eligibility: 1. families include those ascertained by physician referral and those families already accessioned to The Bloom's Syndrome Registry
  2. the family has at least one affected member with BS

Relevance to patient case: not relevant