cyrilzakka/clinical-trials huggingface dataset:
Triheptanoin (UX007) to Treat Citrate Transporter Deficiency

The purpose of this study is to determine whether triheptanoin (UX007) is effective in the treatment of neurological symptoms related to citrate transporter deficiency (SLC13A5 gene mutation).

This compassionate use research study has been developed to study an investigational drug, triheptanoin (UX007), for the treatment of neurological symptoms related to citrate transporter deficiency, a disease with no existing treatment. The hypothesis is that triheptanoin will restore deficient energy metabolism in these patients, leading to improved seizure control, mental clarity, and physical strength.

Based on the literature, the SLC13A5 gene product is a citrate transporter. However, there is the possibility that other compounds are transported as well. The gene may be expressed in human neurons and function at the level of the plasma membrane. The hypothesis is that the transport of citrate across the plasma membrane from the extracellular space into the cytoplasm plays a role in maintaining the pool size of citrate in both the cytoplasm and mitochondrial matrix. Triheptanoin therapy may increase the metabolism of odd-chain fatty acids in neuronal mitochondria and thereby increase the levels of succinyl-CoA, leading to an increase in citrate concentrations. The increased level of citrate in the mitochondrial matrix may lead to an increased efflux of citrate from the matrix to the cytoplasm, thus increasing the cytoplasmic pool of citrate and allowing the malfunctioning citrate transporter to be bypassed. If successful, triheptanoin treatment will improve neuronal function and lead to an improvement in CNS function for patients.

While investigators will follow the course of subjects with considerable interest and may use some of the collected data for clinical research, this study is done for humanitarian reasons.

Eligibility Criteria:
Inclusion Criteria:

* Diagnosis of citrate transporter deficiency due to mutations in the SLC13A5 gene.
* Presentation with severe global developmental delay and seizures.

Exclusion Criteria:

* Valproate is an AED that partially inhibits the TCA cycle via alpha-ketoglutarate dehydrogenase and should not be administered to subjects taking UX007.
Correction of Refractive Error Surprises After Cataract Surgery in Adults

A refractive surprise can be defined as the failure to achieve the intended postoperative refractive target or the presentation of unexpected and, unwanted post-operative refractive error. It can cause anisometropia or dominance switch and is a source of patient dissatisfaction due to unmet expectations.The best way to manage refractive surprise is to prevent it. The 2017 NICE guidelines on the management of cataracts provide advice on prevention of refractive surprise through accurate biometry, A-constant optimisation, intraocular lens (IOL) formula selection and avoiding wrong lens implant errors.Benchmark standards for NHS cataract surgery dictate that 85% of eyes should be within 1 dioptre (D) and 55% within 0.5D of target spherical equivalent refraction following surgery.

Aim(s) of the Research:

1. detection of refractive surprises using autorefractometer, and corneal topography.
2. treatment of the resulting refractive error surprises.

Eligibility Criteria:
Inclusion Criteria:

All adult patients scheduled for cataract surgery with:

* Symptomatizing patients with postoperative spherical error of more than 1 diopters.
* Symptomatizing patients with postoperative cylindrical error of more than 1 diopters.
* Symptomatizing patients with uncorrected distant visual acuity less than 6/24
* Symptomatizing patients with corrected distant visual acuity of less than 6/12
* Clear cornea. 6. Uneventful surgery.

Exclusion Criteria:

* Patients with complicated cataract.
* Raised intraocular pressure (IOP).
* Patients with pathologies of the posterior segment of the eye.
* Other causes of diminution of vision.
Sheathotomy vs. Intravitreal Triamcinolone for Branch Retinal Vein Occlusion

Branch retinal vein occlusion (BRVO) is a common retinal vascular disease occurring in a significant number of individuals older than 50 years.The most common cause of visual disturbance in BRVO patients is macular edema, which has been reported in 60% of patients. Macular grid laser photocoagulation has been shown to be effective in the treatment of macular edema arising from BRVO. Some eyes are resistant to conventional grid laser treatment, and the conventional treatment is not useful in patients with intraretinal hemorrhages that may interfere with laser photocoagulation. Moreover, several studies have shown that conventional grid laser treatment for macular edema may be associated with complications.

Intravitreal triamcinolone acetonide (IVTA) injection has recently been reported to be effective in the treatment of macular edema of various etiologies.On the other hand, arteriovenous sheathotomy is a surgical method suggested for treatment of macular edema in BRVO patients, and has been reported to be efficacious in patients refractory to conventional focal or grid laser macular photocoagulation.Both treatment modalities have been reported to be associated with reductions in central macular thicknesses and improved visual acuities.

The purpose of the study is to compare the efficacies of arteriovenous (AV) sheathotomy and intravitreal triamcinolone (IVTA) injection in the treatment of macular edema associated with branch retinal vein occlusion (BRVO).


Eligibility Criteria:
Inclusion Criteria:

* recent onset (within the 6 months prior to enrollment) of macular edema resulting from BRVO
* best corrected Early Treatment Diabetic Retinopathy Study (ETDRS) scores ≤ 40 letters (Snellen equivalent ≤ 20/40
* intraretinal hemorrhages involving the foveal centers
* generalized breakdown of the inner blood-retina barrier, as documented by diffuse fluorescein leakage on angiography, or diffuse thickening of the retina on optical coherence tomography (OCT), with involvement of the foveal center and most of the macular area, and with foveal thicknesses ≥ 250 micrometer

Exclusion Criteria:

* prior history of intraocular surgery including cataract extraction
* prior history of laser treatments including panretinal photocoagulation and focal/grid macular photocoagulation
* prior history of elevated intraocular pressure secondary to steroid treatment
* prior history of glaucoma or ocular hypertension
* presence of comorbid ocular conditions that might affect visual acuity (VA).
A Model for Predicting the Efficacy of Conversion Therapy for Patients With Colorectal Cancer Liver Metastases by the Detection of 5-hydroxymethylcytosine (5-hmC) in Plasma Cell-free DNA

In this study, the investigators establish a model for predicting the efficacy of conversion therapy for the patients with unresectable liver metastases of colorectal cancer based on the detection of 5-hydroxymethylcytosine (5-hmC) in training group and validate the effectiveness of the model using a validation group.

Radical resection is the preferred treatment of colorectal cancer patients with liver metastasas which significantly reduce the survival. However, the majority of the patients cannot receive liver lesions resection resulting from the size, number and bad location. Conversion therapy can improve the resection rate of these patients. Unfortunately, the efficacy of conversion therapy is still poor in part of the patients. So, it is crucial to distinguish the beneficial ones from the others.

The aim of this single center study is to establish a model for predicting the efficacy of conversion therapy for the patients with unresectable liver metastases of colorectal cancer based on the detection of 5-hmC. Patients will be eligible for inclusion if they suffer with unresectable liver metastases of colorectal cancer and have not received any anti-tumor treatment. Eligible patients will be assigned to effective group (group A) and drug resistance group (group B) according to the evaluation results of multidisciplinary team after 4-8 cycles of conversion therapy about 2-4 months.

Then, 5-hmC in plasma cell-free DNA will be detected and compared between the two groups of patients (training group) to establish a model to predict the efficacy of convertion therapy of other individuals (validation group) who suffer with unresectable liver metastases of colorectal cancer receiving conversion therapy.

Eligibility Criteria:
Inclusion Criteria:

* Histologically proven colorectal adenocarcinoma
* Liver metastases were observed by abdominal pelvic CT and / or MRI with/without other distant metastases
* The liver metastases assessed as unresectable lesions by multidisciplinary team
* No other malignancies in medical history
* Eastern cooperative oncology group score 0-2
* Informed consent

Exclusion Criteria:

* Patients received chemoradiotherapy or other anti-tumor therapy before being enrolled
* Patients and/or family members can not understand or accept this study
* Familial Adenomatous Polyposis, Lynch Syndrome, acute inflammatory bowel disease
* Pregnancy or lactation
* Unsuitable to take part in the clinical trial judged by doctors
dTMS in Obsessive Compulsive Disorder

High-frequency deep transcranial magnetic stimulation (dTMS) over the medial prefrontal cortex (mPFC) and the anterior cingulate cortex (ACC) with an H-coil has been approved by the Food and Drug Administration for use in treatment-resistant obsessive-compulsive disorder (OCD). However, there is not yet strong scientific evidence concerning the efficacy and safety of performing a similar procedure with a double-cone coil or in an accelerated manner. The aim of this study was evaluating the efficacy of dTMS over the medial prefrontal cortex (mPFC) and the anterior cingulate cortex (ACC) in an accelerated manner with double-cone coil.

The current study aimed to investigate the efficacy and safety of multiple deep stimulations per day with a double-cone coil to the mPFC and ACC in treatment-resistant patients with OCD. This study evaluated (I) the effectiveness of high-frequency stimulation of the mPFC and ACC with a double cone coil, and (II) the effectiveness of the application of this protocol in three weeks, not six weeks as approved by the FDA. The participants were randomized into two parallel groups in a double-blind manner. High frequency (20 Hz) dTMS was applied to the mPFC and ACC in one group and sham dTMS to the same regions in the other group, twice a day, for a total of 30 sessions. This application was for three weeks in total, excluding weekends.

Eligibility Criteria:
Inclusion Criteria:

* Clinical diagnosis of obsessive-compulsive disorder
* Not having an adequate response to treatment despite using at least two selective serotonin reuptake inhibitors at a sufficient dose and duration for 12 weeks before the planned add-on treatment
* Aged 18-65 years
* Able to read and write

Exclusion Criteria:

* Not providing consent to participate in the study
* Diagnosis of a psychiatric disorder, such as psychotic disorder, bipolar disorder, major depressive disorder \[Hamilton Depression Rating Scale (HDRS) score above 17\], mental retardation, alcohol-substance use disorder, and organic mental disorder (dementia, delirium, and head trauma, etc.)
* Diagnosis of an important medical or neurological disease (e.g., epilepsy);
* Mental retardation
* Illiteracy
* Having received electroconvulsive therapy (ECT) or TMS within the last six months;
* Having any prosthesis, such as an implant and pacemaker.
Effect of Vit D on New-onset AF in Hypertension

Atrial fibrillation (AF), an important cause of cardiac mortality and morbidity is the most common type of cardiac arrhythmia in clinical practice. Hypertensive individuals are at particular risk of development of atrial fibrillation. Renin-angiotensin-aldosteron system (RAS) which is activated in hypertension may be the underlying mechanism of AF among hypertensive patients.

Vitamin D deficiency has been shown to be involved in the pathogenesis of hypertension, cardiovascular disease and obesity. Increased RAS activity is one of the postulated mechanisms by which vitamin D deficiency may trigger the development of hypertension and various cardiovascular diseases. On the basis of these data we hypothesized that hypovitaminosis D might be associated with new-onset AF among patients with hypertension.


Eligibility Criteria:
Inclusion Criteria:

* Hypertensive patients with new-onset AF

Exclusion Criteria:

Established coronary artery disease

* Heart failure
* Chronic obstructive pulmonary disease
* Diabetes mellitus
* Significant heart valve disease
* Hyperthyroidism
* Renal failure
* Any malignancy
* Acute infection
* Recent thoracic or abdominal surgery
* Under therapy of Vit D3
Correlation of Genetic Polymorphism and Livedo Vasculitis

Livedo vasculitis is disease with recurrent courses of painful foot or ankle ulcerations, followed by healed white scars. The actual mechanism of its pathophysiology is not yet clear. It has been reported to be associated with some gene mutations, for example, factor V Leiden gene. This study is aimed to find the possible relation of these gene mutations in Taiwanese patients.

Livedo vasculitis is a chronic, recurrent painful ulcerations on the ankles and feet. This chronic disease is characterized by healed white, atrophic scars named atrophie blanche. The histopathological exam on the lesion site reveals fibrin deposition within the vessel walls. It has been reported to be related to factor V Leiden mutation (heterozygous) (22.2%), prothrombin G20210A gene mutation (8.3%), PAI promotor 4G/4G genotype and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in about total 30% livedo vasculitis patients. This study is trying to find the correlation between Taiwanese patients and these four genes.

Eligibility Criteria:
Inclusion Criteria:

* Clinical diagnosis of livedo vasculitis

Exclusion Criteria:

* No special exclusion criteria
Facial Yoga Toning Program - A Pilot Study

The primary objective of this study is to determine the efficacy of a facial yoga exercise program on appearance and to measure patient satisfaction with facial yoga practice.

This is a single center prospective longitudinal pilot study of 27 subjects. The study will include 20 study subjects and 7 controls. Participants in this study will be healthy subjects 18 years and older with mild to moderate facial atrophy without a history of surgical or non-surgical treatment to the area. The study subjects will perform facial yoga and apply sunscreen (Neutrogena Helioplex SPF 55) daily. The controls will apply sunscreen alone daily for 8 weeks.

Eligibility Criteria:
Inclusion Criteria:

* over age 18 years

Exclusion Criteria:

* pregnancy
Botulinum Toxin Treatment in Craniofacial, Inguinal, Palmar, Plantar and Truncal Hyperhidrosis

Hyperhidrosis is defined as excessive sweating and affects about 2.8 % of the population.

It has been shown to have a deleterious effect on the quality of life measured using the Dermatology Life Quality Index (DLQI) which is one of the most widely used dermatology-specific quality of life instruments. This is comparable to the effect on quality of life in patients with severe psoriasis of the skin as well as to nodulocystic acne patients before treatment with oral isotretinoin.

The clinical effect of Botulinum Toxin (Btx) A has been established in three randomized controlled trials (RCT) in axillary hyperhidrosis. One RCT has indicated a positive effect in palmar hyperhidrosis. Although there is increasing evidence that Btx A and B have a similar effect on hyperhidrosis of other parts of the body (ie hyperhidrosis of the face, trunk, groin and feet) which is reported in case-reports and open studies there is still a great need for more controlled studies. This is why we will carry out this randomized, double-blind, placebo-controlled study to investigate the clinical effect and safety of Btx A in palmar, plantar and inguinal (groins/buttocks) hyperhidrosis and the clinical effect and safety of Btx B in craniofacial and truncal hyperhidrosis, respectively. Besides using the DLQI instrument we will also study Btx A/B to elucidate the impact of this treatment on quality of life using a generic instrument, the effect on anxiety and depressive symptoms, sweating, and patients´global assessment of therapy.


Eligibility Criteria:
Inclusion Criteria:

* Informed consent received from patient
* Informed consent received from patient´s parents (when patient \< 18 years)
* Hyperhidrosis of the head, trunk, groins/buttocks, hands or feet
* Age \> 16 years
* Patients must be previously untreated with Btx A/B
* If female, patient is post-menopausal, surgically sterilized, or willing to use an acceptable method of birth control (i.e. a hormonal contraceptive, intra-uterine device, diaphragm with spermicide, condom\*) throughout the study. If male with a female partner of childbearing potential, willing to use an acceptable method of birth control for the study duration of the study, for both female and male, acceptable birth control must be used for at least 3 months after the last dose of study medication.

  \* A condom alone is not considered an acceptable method for birth control. Two barrier methods only are not considered an acceptable method of birth control.
* Patients must have DLQI-score ≥ 10 and HDSS-score ≥ 3

Exclusion Criteria:

* Contraindication to Btx
* Use of aminoglycosides, tetracyclines , spectinomycin, lincomycin, polymyxin or muscle relaxants
* Pregnancy or lactation
* Patients unwilling to meet the requirements of the protocol
* Other medical or social reasons for exclusion at the discretion of the Investigator
18F-FACBC PET/CT and the PSA Kinetics for PCa Patients With Biochemical Recurrence.

Prostate cancer (PCa) is the fifth-most common cancer for male with a seventh highest cancer-related death in Taiwan. Currently, the incidence and mortality rate are still increasing rapidly. The treatment decision planning is made up by clinical charts like Gleason score (GS), TNM stage and serum prostate-specific antigen (PSA) level. However, after definitive therapy for PCa with either external beam radiotherapy (EBRT) or radical prostatectomy (RP), up to half patients experience biochemical recurrence (BCR). Although not all patients with BCR proceed to develop disease progression, it is important to identify early lesion to initiate salvage treatment.

Anti-1-amino-3-\[18F\]fluorocyclobutane-1-carboxylic acid (18F-FACBC) positron emission tomography (PET) is a imaging marker for L-amino acid transport evaluation. Many cancers including PCa have up-regulated amino acid transport tied to their proliferative potential. Recently, 18F-FACBC was included in the National Comprehensive Cancer Network (NCCN) guidelines for the management of recurrent PCa patients. As we know, PSA level and PSA kinetics are valuable for the prediction of recurrence. The objective of this study is to investigate the correlation between the detection rate of 18F-FACBC PET/CT and the PSA kinetics for PCa patients with BCR.


Eligibility Criteria:
Inclusion criteria:

* PCa patients with BCR
* Serum PSA data and pathologic report
* Agreement consent

Exclusion criteria:

* Claustrophobia and unstable vital signs
* Disagreement
Effects of Intravenous Anesthesia on Postoperative Cognitive Function in Patients Accepted Painless Gastroenteroscopy

The investigators want to study the effect of intravenous anesthesia on postoperative cognitive function in patients accepted gastroenteroscopy ,no additional medication or operation is involved

The investigators want to study the effect of intravenous anesthesia on postoperative cognitive function in patients accepted gastroenteroscopy ,no additional medication or operation is involved.The investigators assess cognitive function through a series of tests for 4 times( within 3 days before the endoscopy ,2 hours after the endoscopy finished,1 week after the endoscopy,3 months after the endoscopy),including WCST、DSST、DST、HADS、MoCA,through self - contrast,the investigators will conclude whether intravenous anesthesia has bad impact on cognitive function or not .

Eligibility Criteria:
Inclusion Criteria:

* voluntary to participate in
* Vital signs are stable
* no drug or alcohol abuse
* no mental illness
* no severe central system diseases such as brain infarction
* between 18 and 80
* no liver or kidney dysfunction
* will perform endoscopy for various reasons

Exclusion Criteria:

* illiteracy
* color blindness
* can't write or refused to sign informed consent
* unable to follow up regularly or cooperate with the examination
* drug or alcohol abuse
* hearing or visual serious impairment
* has severe central nervous system diseases such as shoke ,neurosyphilis
* uncontrolled high blood pressure or hyperglycemia
* neurosyphilis
* history of craniotomy for various reasons
* liver and kidney dysfunction
* non-digestive tumors
* history of intravenous or general anesthesia for other causes in the last 3 months
Exercise Training to Improve Cardiopulmonary Hemodynamics in Heart Failure Patients

This research study is being done to find out if exercise therapy can help improve the heart function, overall health, and quality of life of patients with pulmonary hypertension caused by heart failure.

The purpose of this research is to see if taking part in structured exercise training will improve the ability to exercise, the function of the heart, and the function of the blood vessels that supply the lungs in patients with heart failure and pulmonary hypertension. After enrollment all patients will complete exercise testing. Patients will be randomized to either 10 weeks of exercise training (3 times per week) or will continue standard medical care. All patients will undergo detailed exercise testing before and after the intervention.

Eligibility Criteria:
Inclusion Criteria:

* NYHA functional class I-IIIb.
* LVEF \< 40%.
* Clinically-stable for \> 3 months \[no change in disease status or medication\].
* Willing and able to provide written informed consent and perform cycle-ergometer or treadmill based exercise.

Exclusion Criteria:

* NYHA class IV HF.
* Diagnosis of diastolic HF.
* Comorbidities such as obesity (BMI \>36), uncontrolled systemic hypertension, type 2 diabetes, and COPD (FEV1 \<50%).
* Musculoskeletal or other conditions that would limit exercise participation.
* Pregnant or nursing women