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

Clinical trial: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Detailed description: CoRDS collects contact, sociodemographic and health information about participants. This information is entered into CoRDS and linked to a unique coded identifier. Below are some examples of information requested on the Questionnaire that will be entered into CoRDS:
  -  Contact information: Name, Mailing Address, Phone Number, Email Address
  -  Sociodemographic information: Date of Birth, Place of Birth, Sex, Gender, Ethnicity
  -  Health information: Family History, Information related to Diagnosis
  De-identified information in CoRDS will be made available to researchers, if they have obtained approval for their research project from (1) the Institutional Review Board (IRB) at the researcher's institution and (2) a panel of experts.
  A subset of de-identified information collected from each profile may be shared with certain other databases. This is done in order to help improve understanding of rare diseases, to avoid the duplication of efforts and to collaborate with existing research efforts with organizations dedicated to rare diseases.
  Participants may elect to have their information shared with patient advocacy groups (PAGs) representing individuals with rare or uncommon diseases who have partnered with CoRDS. The PAG will sign an agreement stating that they will not use the information for Research purposes. CoRDS personnel will not be held responsible for the use of information by the PAG.
  The CoRDS Registry will not be paid by Researchers, Other Patient Registries or Patient Advocacy Groups (PAGs) for access to information in CoRDS.
  If a parent/LAR consents on behalf of a minor, CoRDS will contact the participant when he or she reaches the age of 18 in order to obtain consent. If this consent is not obtained in a timely manner, the participant will be withdrawn from CoRDS.
  CoRDS contacts participants annually to confirm continued interest in participation in CoRDS, and to request that participants update the information they have provided.

Eligibility: Inclusion Criteria:
  -  Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare/uncommon disease
  Exclusion Criteria:
  -  Diagnosis of a disease which is not rare

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Gene Therapy for Tay-Sachs Disease

Summary: Hypothesis: To study the natural history of Tay-Sachs disease and evaluate therapeutic interventions.
  This study is intended to work in collaboration with NCT00668187 "A Natural History Study of Hexosaminidase Deficiency." Because so few patients with Tay-Sachs disease present annually, we will maximize both research projects by enrolling patients in both studies. For this present study, we will perform retrospective medical record review to gather data. Through this medical record review, we will collect biomarker analysis results, neuroimaging report data, quality-of-life questionnaire data and ophthalmology exam findings. If the subject has undergone therapy or treatment, the results will be noted.

Detailed description: Much has been done in the past four decades to better understand, improve diagnostic measures of, and prevent hexosaminidase deficiency diseases, yet all of them — Tay-Sachs, Sandhoff, and Late Onset Tay-Sachs (LOTS) — remain diseases without treatment. Much work remains to be done to understand and effectively treat these diseases. To date, no comprehensive assessment of the natural history of Tay-Sachs or Sandhoff has been undertaken. The information that is gathered through this study will characterize and describe the Tay-Sachs disease population as a whole, including the variability and progression of this disease. This information, in turn, will function as a point of reference against which to assess the efficacy of therapeutic interventions. Therapeutic interventions may include any treatments/therapies the subject may have undergone in the past, including hematopoietic cell transplantation, and/or the administration of miglustat, acetylcysteine, or other pharmaceutical agents; and possible future gene therapies.

Eligibility: Inclusion Criteria:
  Any person who has been diagnosed with a hexosaminidase deficiency disease can be included in this study.
  Exclusion Criteria:
  The only exclusion criteria is a desire not to participate in this study.

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Identification of Carnitine-Responsive Cardiomyopathy

Summary: There are some adults with skeletal muscle weakness (called "myopathy") and heart muscle weakness (called "cardiomyopathy") who have low blood levels of a compound called carnitine as a cause of their problems. Carnitine is very important to energy production in muscles. In fact, there are reports of some people with carnitine deficiency who have developed myopathy and cardiomyopathy that was completely reversed with carnitine treatment. The main objective of our project is to determine the number of patients who have carnitine deficiency as a cause of their myopathy and cardiomyopathy. The investigators will be measuring carnitine levels in 1000 patients with cardiomyopathy and will describe the specific features in all the study patients to see if there are any trends that may help us predict which patients with muscle weakness are at risk of developing low carnitine levels. The investigators will be treating patients with low carnitine levels with carnitine and observing them to see if their cardiomyopathy and their muscle weakness improve. Knowing the exact percentage of myopathy and cardiomyopathy patients with carnitine deficiency may allow for screening of patients in a cheap and targeted way to treat the serious complication of this condition, including heart failure and sudden death.

Detailed description: The primary objective of this research is to determine the prevalence of primary and secondary (genetic and acquired) carnitine deficiency in patients with limb girdle weakness and hypertrophic or idiopathic dilated cardiomyopathy where an underlying cause is unknown. Identification and treatment with carnitine may potentially reverse or halt heart failure and skeletal muscle weakness in these patients.
  Specific aims:
  1. To ascertain the prevalence of primary and secondary carnitine deficiency in a population of adults with myopathy and hypertrophic and dilated cardiomyopathy of unknown etiology
  2. To describe the demographic and phenotypic characteristics of patients with myopathy and dilated or hypertrophic cardiomyopathy who have primary and secondary carnitine deficiency
  3. To measure the motor and cardiovascular response to carnitine supplementation in patients with myopathy, cardiomyopathy and carnitine deficiency

Eligibility: Inclusion Criteria:
  -  An adult patient (>18 years) with a diagnosis of either hypertrophic or dilated cardiomyopathy, for which the underlying etiology of the cardiomyopathy is unknown.
  Exclusion Criteria:
  -  A history of ischemia
  -  A documented or suspected infection including HIV
  -  A history of severe longstanding hypertension
  -  A history of valvular heart disease
  -  A history of chemotherapy exposure
  -  A history of alcohol abuse
  -  Carnitine supplementation at the time of recruitment

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: A Phase 2 Study of BGJ398 in Patients With Recurrent GBM

Summary: This is an open-label non-randomized, multicenter, phase II study of BGJ398 administered to adult patients with histologically confirmed GBM and/or other glioma subtypes with FGFR1-TACC1, FGFR3-TACC3 fusion and/or activating mutation in FGFR1, 2 or 3.

Detailed description: Patients will be enrolled in two groups. Group 1 will enroll patients who are not candidates for surgery. Group 2 will enroll patients who are surgical candidates. Patients from both groups will be evaluated for tumor response and progression by MRI every 8 weeks until disease progression or discontinuation from study using RANO criteria.

Eligibility: Inclusion criteria:
  1. Patients with histologically confirmed GBM and/or other glioma subtypes at the time of diagnosis or prior relapse.
  2. Written documentation of local or central laboratory determination of amplification or translocation to FGFR1-TACC1, FGFR3-TACC-3 fusion and/or activating mutation in FGFR1, FGFR2,or FGFR3
  3. RANO defined tumor progression by MRI in comparison to a prior scan
  4. Patients must have received prior external beam radiotherapy and temozolomide.
  Exclusion criteria:
  1. History of another primary malignancy
  2. Prior or current treatment with a FGFR inhibitor
  3. Neurological symptoms related to underlying disease requiring increasing doses of corticosteroids
  4. Patients must not be taking Enzyme Inducing Anti-Epileptic Drug (EIAED). If previously on an EIAED, the patient must be off of it for at least two weeks prior to study treatment.

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Carfilzomib for the Prevention of Graft Versus Host Disease

Summary: The aim of this study is to evaluate the safety and efficacy of Carfilzumib, which is a novel biological agent used in the treatment of multiple myeloma in preventing graft-versus-host disease, after stem cells transplantation from unrelated donors.


Eligibility: Inclusion Criteria:
  1. Patients with MDS/AML
  2. 18 years or older and willing and able to comply with the protocol requirements.
  3. LVEF ≥ 40%. 2-D transthoracic echocardiogram (ECHO) is the preferred method of evaluation. Multigated Acquisition Scan (MUGA) is acceptable if ECHO is not available.
  4. Patients undergoing 8-10/10 HLA matched unrelated and unmanipulated PBSC transplantation
  5. Patients conditioned with reduced intensity or reduced toxicity conditioning i.e. Fludarabine combine with Treosulfan or 2-4 days of I.V Busulfan.
  6. Patients must sign written informed consent.
  7. Adequate birth control in fertile patients.
  Exclusion Criteria:
  1. Patients undergoing other type of transplantation or with other type of basic disease other than AML or MDS.
  2. Patients with respiratory failure (DLCO < 30%).
  3. Active congestive heart failure (New York Heart Association [NYHA] Class III to IV), symptomatic ischemia, or conduction abnormalities uncontrolled by conventional intervention.
  4. Patients with > grade II liver renal toxicity.
  5. Psychiatric conditions/disease that impair the ability to give informed consent or to adequately co-operate
  6. Bilirubin > 3.0 mg/dl, transaminases > 3 times upper normal limit
  7. Creatinine > 2.0 mg/dl
  8. ECOG-Performance status > 2
  9. Uncontrolled infection
  10. Pregnancy or lactation
  11. CNS disease involvement
  12. Pleural effusion or ascites > 1 liter.

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Prospective Becker-Heart-Study

Summary: The purpose of this study is to determine whether electrocardiogram, echocardiography, cardiac MRI, sera biomarkers can improve early detection of myocardial involvement and clinical outcome.

Detailed description: A cohort of 100 patients with mutations in the dystrophin gene associated with Becker muscular dystrophy and/or dilated cardiomyopathy will be included (patients with Duchenne muscular dystrophy are excluded).
  Patients with undergo at baseline the following workups: electrocardiogram, echocardiography, cardiac MRI, sera biomarkers measurement.
  At 3 years and 5 years, patients will be investigated according to the same protocol and occurrence of cardiac adverse events in the meanwhile will be recorded.
  Statistical analysis will assess correlations between cardiac phenotype and DMD mutations and prognostic value of cardiac investigations.

Eligibility: Inclusion Criteria:
  -  mutation in the DMD gene
  -  Becker muscular dystrophy and/or dilated cardiomyopathy
  -  age>18 years
  -  affiliation to the French medical insurance
  Exclusion Criteria:
  -  Duchenne muscular dystrophy
  -  Any other chronic disease that may be associated with heart disease

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Study to Evaluate Treatment of Dabrafenib Plus Trametinib in Subjects With BRAF Mutation-Positive Melanoma That Has Metastasized to the Brain

Summary: This is a multi-cohort, open label, Phase II study with Dabrafenib (GSK2118436) and Trametinib (GSK1120212) combination therapy in subject with BRAF mutation-positive melanoma that has metastasized to the brain. This study will evaluate the safety and efficacy of 4 cohorts. Cohorts will consist of; V600 E, D, K, R mutations, metastases to the brain, symptomatic and asymptomatic, with or without prior local (brain) therapy, with or without prior local (brain) therapy, and range of ECOG scores from 0-2.


Eligibility: Inclusion Criteria:
  -  ECOG Performance Status range of 0-2
  -  Histologically confirmed cutaneous metastatic melanoma of V600 E, K, D or R.
  -  May be systemic naïve or received up to two previous systemic treatment regimens for metastatic melanoma.
  -  Must be able to undergo MRI and have at least one measurable intracranial lesion for which specific criteria have to be met.
  Exclusion Criteria:
  -  Prior treatment with any BRAF inhibitor or any mitogen-activated protein/extracellular signal-regulated kinase inhibitor.
  -  Anti-cancer therapy or investigational anti-cancer therapy or chemotherapy without delayed toxicity within treatment specific timeframe.
  -  Treatment with stereotactic radiosurgery or treatment with whole-brain radiation within treatment specific timeframe.
  -  Any presence of leptomeningeal disease or any parenchymal brain metastasis
  -  History of another malignancy, some exceptions may apply.
  -  A history or evidence of cardiovascular risk- specific criteria have to be met
  -  A history or current evidence/risk of retinal vein occlusion or retinal pigment epithelial detachment - specific criteria have to be met.

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: A Retrospective Immunohistochemistry Study of the Expression of Glycine/ Serine Pathway Molecules in Solid Tumors

Summary: The purpose of this study is to determine the expression of molecules involved in the glycine/serine pathway using immunohistochemistry in solid tumors. Archived paraffin-embedded pathological specimens from the Department of Pathology, NUH will be obtained. Tissue microarray (TMA) is a high-throughput method of analysing large numbers of formalin-fixed, paraffin-embedded tumor at a minimal cost and effort. To analyse the expression of molecules of putative relevance to the glycine/serine pathway, (such as PSPH, PSAT1, SHMT1, and GLDC), TMA technology will be utilised as previously reported (Kristiansen, Zhang, Soong). Tissue arrays will be constructed from solid tumors including cancers of the colon/ rectum, lung, breast, cervix, ovary, endometrium, fallopian tube, prostate, kidney, testis, stomach, liver, brain and lymphoma. One hundred cases of each tumor type (subject to availability) will be stained using immunohistochemistry. Patient Identifiers will not be collected. Societal benefit in terms of knowledge gained to improve understanding of cancer. No direct risk to subjects as this is a retrospective study of archived pathological tumour samples.


Eligibility: Inclusion Criteria:
  -  Patients with solid tumor cancer

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Efficacy and Safety of LGX818 in Patients With Advanced or Metastatic BRAF V600 Mutant NSCLC

Summary: This is an open-label, multi-center, single arm phase II study to evaluate the efficacy and safety of novel BRAF (B-raf murine sarcoma viral oncogene homolog B1) inhibitor encorafenib (LGX818) when used as single agent in patients with advanced or metastatic (stage IIIB or IV) BRAF V600 mutant NSCLC. Patients must have progressed on or after at least one previous systemic, anti-cancer therapy for locally advanced or metastatic NSCLC.


Eligibility: Inclusion Criteria:
  -  Presence of BRAF V600E mutation in tumor tissue
  -  Histologically or cytologically confirmed diagnosis of Stage IIIB or IV NSCLC
  -  At least one measurable lesion as defined by RECIST v1.1
  -  Patients must have progressed during or after at least one previous systemic, anti-cancer treatment for locally advanced or metastatic NSCLC.
  -  Eastern Cooperative Oncology Group (ECOG)/World Health Organization (WHO) performance status 0-2
  Exclusion Criteria:
  -  Patients with symptomatic Central Nervous System (CNS) metastases
  -  History of leptomeningeal metastases
  -  Prior therapy with a BRAF inhibitor
  -  Patients taking prohibited medication listed in the protocol
  -  Presence or history of a malignant disease other than NSCLC that has been diagnosed and/or required therapy within the past 3 years.
  -  Impaired cardiovascular function or clinically significant cardiovascular diseases
  -  Pregnant or lactating women or woman of childbearing potential

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy

Summary: This study aims to determine the effect of Coenzyme Q10 supplementation on conventional therapy of children with heart failure due to idiopathic dilated cardiomyopathy.

Detailed description: This study aims to determine the effect of Coenzyme Q10 supplementation on conventional therapy of children with heart failure due to idiopathic dilated cardiomyopathy. In a prospective, randomized, double-blinded, placebo-controlled trial, patients younger than 18 years with idiopathic dilated cardiomyopathy randomizes to receive either Coenzyme Q10 or placebo. Echocardiographic systolic and diastolic function parameters are determined for every patient at baseline, after three,six and nine months of supplementation.

Eligibility: Inclusion Criteria:
  -  Known cases of Idiopathic Dilated Cardiomyopathy (IDC)
  -  Those patients in whom heart failure medications were stable for at least 1 month
  -  More than 6 months aged
  Exclusion Criteria:
  -  Recent modification in medications
  -  Hemodynamic instability
  -  Congenital heart disease
  -  Metabolic heart disease
  -  Cardiac dysfunction resulting from abnormalities in other organs and those with an acquired cardiomyopathy

Relevance to patient case: not relevant
Patient case: 32-year-old male with dilated cardiomyopathy; genetic feature: LMNA

Clinical trial: Study on the microRNA Expression Level in Postmenopausal Osteoporosis

Summary: The miRNA plays an important regulation role in gene expression, and also closely related to bone metabolism. Previous research found that postmenopausal osteoporosis with kidney Yin deficiency syndrome (POP) is associated with CLCF1 gene. This project proposed by bioinformatics prediction CLCF1 targeted regulation of miRNAs, and use the 3 'UTR dual luciferase report system for target validation, aimed at the miRNA levels to explore postmenopausal osteoporosis molecular mechanism with kidney Yin deficiency syndrome.


Eligibility: Inclusion Criteria:
  -  The Participants who volunteer to be test subjects, and can accept experimental drugs, and promise to finish the course should sign the informed consent.
  -  Female ages 45 to 75 had gone through natural menopause before two years
  -  In accordance with the western medicine diagnostic criteria of osteoporosis and belong to kidney Yin deficiency syndrome differentiation of traditional Chinese medicine certificate;
  -  In accordance with the western medicine diagnostic criteria;
  -  In accordance with TCM diagnostic methods; .If any of the above answers are no, The subjects couldn't in the study.
  Exclusion Criteria:
  -  Do not accord with standard of the western medicine diagnosis and TCM diagnostic methods
  -  Age: <44 and > 76 years old;
  -  With hyperparathyroidism, osteomalacia, rheumatoid arthritis, multiple myeloma and other serious complications such as secondary osteoporosis; Late or deformity, disability, loss of labor;
  -  With cardiovascular, cerebrovascular, liver, kidney and hematopoietic system and other serious primary diseases;
  -  Psychosis or alzheimer's patients;
  -  Nearly three months, the use of hormone replacement therapy (HRT) and taking calcitonin, nearly six months has used double phosphonic acid salt for 15 days, etc.;
  -  This medicine allergic constitution or composition of known to have allergies;
  -  In a critical condition, It's difficult to make exact evaluators to efficacy and safety of the new drugs;

Relevance to patient case: not relevant