cyrilzakka/clinical-trials huggingface dataset:
TG Gene Mutations and Congenital Hypothyroidism

The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.

Congenital goitrous hypothyroid is commonly linked to thyroglobulin (TG) gene mutations.We aim to identify mutations in the TG gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.Four related patients with congenital goiter hypothyroidism from an inbred family were studied.Recombinant human TSH stimulation test, DNA sequencing and protein computer analysis were performed.We identified a novel compound heterozygous constellation (IVS30+1G\>T/A2215D) in two siblings. It was also identified a homozygous intronic mutation (IVS30+1G\>T) in their cousins, one of them with fetal goiter. The mutation IVS30+1G\>T promotes an aberrant splicing and loss of the entire exon 30 (138 nt) in the resulting messenger RNA. The recent described mutation A2215D is located in the ACHE-like domain, which functions as a dimerization domain, facilitating efficient intracellular transport of the protein. Protein computer analysis suggested that the A2215D mutation causes TG structural alterations.A novel compound heterozygous constellation (IVS30+1G\>T/A2215D) and the previously described mutation (IVS30+1G\>T) that cause severe congenital hypothyroidism due to defective TG synthesis have been identified. The mutation IVS30+1G\>T may be related to fetal goiter and hypothyroidism due to TG instability and impaired TG export to the colloid. This study shows the efficiency of the use of rhTSH in the differential diagnosis of CH due to TG defective synthesis and the importance of molecular diagnosis of CH for possible intrauterine treatment, thereby avoiding damage to the neuropsychomotor system.

Eligibility Criteria:
Inclusion Criteria:

* Patients with congenital hypothyroidism due to thyroglobulin defective synthesis.

Exclusion Criteria:

* Patients with another disease.
Next Steps: a Community-led Solution to Address Childhood Obesity

The purpose of Next Steps pilot intervention is to develop and test a new program designed to help low-income multiethnic families with overweight or obese children achieve long-term maintenance of healthful behaviors following completion of Hennepin County Medical Center's (HCMC) 16-week intensive obesity management course (Taking Steps Together (TST)).

Next Steps is a community based pilot intervention study conducted in collaboration between community leaders, the University of Minnesota, Hennepin County Medical Center (HCMC) and The Family Partnership. The study collaborators will develop and test a new program designed to help low-income multiethnic families with overweight or obese children achieve long-term maintenance of healthful behaviors following completion of HCMC's 16-week intensive obesity management course (Taking Steps Together (TST)). Next Steps, the focus of this study, will comprise a network of parent-led, community-based health maintenance programs that will be offered to TST graduate families.

Project Aims:

Aim 1: Establish a core parent leadership group and health maintenance program network that is self-sustaining and can serve the community for years to come.

Aim 2: Test the feasibility, acceptability and sustainability of the Next Steps programs.

Aim 3: Assess the impact of the Next Steps programs on helping participant families sustain or improve healthful behaviors and achieve or maintain healthy body mass index (BMI).

Eligibility Criteria:
Inclusion Criteria:

* Families that are graduates of the Taking Step Together program.
* Families with at least one overweight or obese child between the ages of 7-17.
* Family members of all ages who have graduated from the Taking Steps Together program will be included in the study.

Exclusion Criteria:

* Families who are not graduates of the Taking Steps Together program.
* Families who do not have one child that is between the ages of 7-17 and who is overweight or obese
Body Image, Self-stigma, Intuitive Eating and Exercise Behavior in Overweight and Obese

This study, it was aimed to investigate the relationship between body image, self-stigma, intuitive eating and exercise attitude levels, which are thought to be effective on the mental well-being of overweight and obese individuals. For this purpose, the Body Image Scale, Intuitive Eating Scale-2, Exercise Stages of Change Scale-Short Form and Decisional Balance Scale in Exercise will be used to assess overweight and obese individuals. 100 people will be included in the study.


Eligibility Criteria:
Inclusion Criteria:

* Individuals aged between 18-65
* BMI ≥30 kg/m2,
* No surgical operation in the last 6 months

Exclusion Criteria:

* Musculoskeletal disorders or systemic diseases that may prevent exercise
* The presence of psychiatric or neurological disease affecting cooperation and cognitive functions
* Presence of acute pain
* Heart pain
* Presence of previous myocardial infarction, subjective heart failure, uncontrolled diabetes and hypertension
Yoga Improves Aerobic Fitness, Glycemia and Mood State and Reduces Abdominal Obesity

Stretching and flexibility exercise such as yoga and functional resistance exercise are two forms of exercise that are growing in popularity. However, they have not been scientifically tested to demonstrate their ability to improve body composition, fitness, heart and metabolic health, and mood state in overweight/obese women. The investigators hypothesize that during an 11 week intervention, both forms of exercise will improve body composition, heart and metabolic health and mood state.

This study was a 11 week protein-rich whole food diet and exercise training intervention in middle aged overweight/obese women. Subjects were randomized into 3 groups: Protein-rich whole food only consumed as 20-25 grams per serving 4-6 per day (P); protein and resistance exercise training (R); and protein and stretching/yoga exercise training (S). All outcomes, including the primary outcomes of body composition and cardiometabolic biomarkers were measured at baseline (week 0) and post-intervention (week 12) in all study subjects.

Eligibility Criteria:
Inclusion Criteria:

* obese or overweight women
* between ages 25-60 and
* otherwise healthy

Exclusion Criteria:

* smokers,
* habitual exercisers
A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study of ABT-494 for the Induction of Symptomatic and Endoscopic Remission in Subjects With Moderately to Severely Active Crohn's Disease Who Have Inadequately Responded to or Are Intolerant to Immunomodulators or Anti-TNF Therapy

To determine the efficacy and safety of multiple doses of ABT-494 in subjects with moderately to severely active Crohn's Disease with a history of inadequate response to or intolerance to Immunomodulators or anti-Tumor Necrosis Factor (TNF) therapy.


Eligibility Criteria:
Inclusion Criteria:

1. Diagnosis of Crohn's disease (CD) for at least 90 days.
2. Crohn's Disease Activity Index (CDAI) greater than or equal to 220 and less than or equal to 450.
3. Subject inadequately responded to or experienced intolerance to previous treatment with immunomodulators (e.g. azathioprine, 6-mercaptopurine, or methotrexate) and/or anti-TNF agent (e.g., infliximab, adalimumab, or certolizumab pegol).

Exclusion Criteria:

1. Subjects with ulcerative colitis (UC), collagenous colitis or indeterminate colitis.
2. Subject who has had surgical bowel resections in the past 6 months or is planning resection.
3. Subjects with an ostomy or ileoanal pouch.
4. Subject with symptomatic bowel stricture or abdominal or peri-anal abcess.
5. Subject who has short bowel syndrome.
6. Subject with recurring infections or active Tuberculosis (TB).
Does Weightbearing Crutch Technology Impact Patient Compliance?

The goal of this study is to determine if weight-bearing crutch technology that delivers active feedback to patients during their treatment will impact patient compliance with physician instructions.


Eligibility Criteria:
Inclusion Criteria:

* Willing and able to participate in study and complete consent
* Will undergo treatment of an isolated tibial plateau, pilon, or ankle fracture and placed in a non-weightbearing status with the use of crutches at NYU.
* Have access and use of a mobile phone (exclusively iOS and/or Android devices)

Exclusion Criteria:

* Patients with concomitant TBI
* Polytrauma patients
* Pathologic fractures
* Prisoners
A Study Of A New Medicine (GW597599B) For The Treatment Of Major Depressive Disorder

A Placebo Controlled Study Evaluating Efficacy And Safety of Medication In Patients With Major Depressive Disorder (MDD)


Eligibility Criteria:
Inclusion Criteria:

* Patients meet the diagnosis of Major Depressive Disorder (MDD).

Exclusion Criteria:

* Patients with a primary diagnosis other than MDD.
* Patients with a history of schizophrenia, schizoaffective disorders, seizure disorders or bipolar affective disorder.
* Patients receiving formal psychotherapy or cognitive/behavioral therapy concurrently or in the 12 weeks prior to screening visit.
* Patient is actively suicidal.
* Patients who have a history of migraine headaches.
Open Registry Measuring Impact of Genomic Testing on Treatment of Prostate Cancer Patients

This registry is intended to evaluate the impact of genomic test results towards selecting a first-line therapy option for newly diagnosed localized prostate cancer patients.


Eligibility Criteria:
Inclusion Criteria:

* Newly diagnosed (≤6 months), untreated patients with histologically proven adenocarcinoma of the prostate that have the following characteristics.
* Clinically localized (no evidence on clinical or imaging studies of advanced disease).
* No hormonal therapy including LHRH (luteinizing hormone-releasing hormone) agonist or antagonist, anti-androgen, estrogens or exogenous androgens, when applicable.
* Sufficient amount of tissue remains from biopsy to perform genomic testing.

Exclusion Criteria:

* Patients with a known history of hypogonadism
Efficacy of Lanthanum Carbonate in Calciphylaxis

The research question and primary aim is to determine if lanthanum carbonate is effective in treating calciphylaxis by measurement of complete or partial remission of skin lesions. Secondary endpoints will be measured to determine if lanthanum carbonate can lower calcium-phosphorus product levels, intact PTH and mortality. Albumin levels will be measured as a marker of nutritional status and inflammation.

Calciphylaxis or calcific uremic arteriolopathy is an infrequently occurring although debilitating vasculopathy seen primarily in patients with end stage renal disease (ESRD) which almost always affects the skin. It has a prevalence rate \~4 % in long term hemodialysis patients, with 1-year survival of 45% and an 8-fold risk of death as compared to the general dialysis population. (Surgery 1997;122:1083-1089, Kidney Int 2001;60:324-332). Despite being described in the literature for over 100 years, there has been no proven effective therapy. Lanthanum carbonate (FOSRENOL®) is a potent non-aluminum, non-calcium phosphate binder that was approved for use to reduce serum phosphate levels in patients with end stage renal disease. Since the proposed etiologic mechanism of injury and vascular calcification of calciphylaxis is predominantly hyperphosphatemia, elevated serum PTH, and hypercalcemia, FOSRENOL® would be an ideal pharmacologic agent to utilize in this extremely enigmatic disease (Dermatol Clin. 2008 Oct;26(4):557-68). Furthermore, a recent case report demonstrated a significant improvement in laboratory parameters and calciphylaxis skin lesions with the use of FOSRENOL® (WMJ. 2008 Nov;107(7):335-8). The primary hypothesis is that since calciphylaxis represents the ultimate sequelae of metastatic vascular calcification predominantly involving hyperphosphatemia, elevated serum PTH, and hypercalcemia, FOSRENOL® will be efficacious in its treatment.

Eligibility Criteria:
Inclusion Criteria:

* i Participants will have signed a witnessed informed consent. ii Participants will be greater than or equal to 18 years of age iii Chronic renal failure receiving hemodialysis or peritoneal dialysis iv A diagnosis of calciphylaxis proven by skin biopsy or initial dermatology visit within the previous 5 year v Serum phosphorus \> 4.5 mg/dL

Exclusion Criteria:

* i Participants are not able to understand or provide written informed consent ii The research team deems that the participant may not be able to follow the study protocol.

iii Non-dependent HD patients receiving dialysis while in acute kidney injury; iv Pregnant dialysis patient v Active gastrointestinal obstruction or bleed vi Active inflammatory bowel disease vii Acute arteriovenous graft occlusion viii Known hypersensitivity to FOSRENOL®
Study to Assess the Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of GEn1E-1124

In this early phase clinical research study, the investigational drug will be administered to 64 healthy volunteers in a double-blind, placebo-controlled manner, at a one research center. The objectives of the study are to assess what the body does to the investigational drug, what the investigational drug does to the body and also to observe the safety and tolerability of the investigational drug healthy volunteers.


Eligibility Criteria:
Inclusion Criteria:

1. Healthy male and female subjects;
2. Between 18 and 55 years of age;
3. Provide a signed EC-approved consent form;
4. Generally healthy, in the opinion of the Investigator;
5. Body Mass Index (BMI) 18 to 30 kg/m\^2;
6. Creatinine clearance with in specific parameter;
7. Using method of contraception;
8. Willing and able to comply with protocol requirements for the duration of the study.

Exclusion Criteria:

1. Subjects taking prohibited medication;
2. Subjects with a history or presence of clinically significant medical or psychiatric disease;
3. Subjects who have regularly used nicotine-containing products ;
4. Subjects who have used caffeine-containing products;
5. Subjects who are unable to comply with eating a standardized meal during the study;
6. Subjects with a hospital admission or major surgery within 30 days prior to Screening;
7. Subjects with a plasma donation within 7 days prior to Screening;
8. Subjects who have not abstained from alcoholic beverages/alcohol-containing products at least 72 hours prior to first dose, or plan to consume them at any time through completion of the Follow-up Visit;
9. Subjects who cannot refrain from strenuous exercise from 72 hours prior to dose administration through completion of the Follow-up Visit;
10. Subjects who are pregnant or breastfeeding
11. Subjects who have participated (taken investigative drug and/or device) in another clinical trial within 90 days prior to Screening;
12. Subjects who are employees of the study unit or their family members, students who are working in the study unit, or family members of the Investigator or Sponsor.
Follow-On Study of Pitavastatin Versus Atorvastatin in Patients With Type II Diabetes Mellitus and Combined Dyslipidemia

This is a sixteen-week double-blind active-controlled follow-on and 28-week single-blind extension study for patients who participated in study NK-104-305.


Eligibility Criteria:
Inclusion Criteria:

* Type II diabetes mellitus
* Combined dyslipidemia
* Completed NK-104-305 (NCT00309751)

Exclusion Criteria:

* Withdrawal from NK-104-305 (NCT00309751)
Beta- Probe and Surgery in GEP NET: Evaluation of a New Probe

Radioguided surgery (RGS) with beta- radioisotopes is a novel approach focused on developing a new probe which, detecting electrons and operating with low background, provides a clearer delineation of the margins of lesions with low radiation exposition for surgeons.

To validate this procedure, ex vivo specimens of tumours expressing somatostatin receptors, as small-intestine neuroendocrine (SI-NET), will be tested

Small Intestinal neuroendocrine patients, with a positive Ga-68-DOTATOC PET/CT, will receive a small amount of beta- radiopharmaceutical (Y-90-DOTATOC), and then operated, as clinical indicated.

Tissue samples will be tested ex-vivo with a beta-probe prototype

Eligibility Criteria:
Inclusion Criteria:

* SI NET patients, Ga-68-DOTATOC PET/CT positive, proposed for surgery

Exclusion Criteria:

* negative PET/CT; pregnancy
The Effect of Creatine Supplementation on Muscle Function in Childhood Myositis

This project will bring together a multidisciplinary team of pediatric rheumatologists, neurologists, metabolic geneticists and exercise physiologists to determine the effect of creatine (CR) supplementation on muscle function and muscle metabolism in children with Dermatomyositis (DM). The investigators propose using well-established exercise testing techniques as well as new, powerful exercise imaging protocols in order to better delineate the effects of CR on muscle pathophysiology in a non-invasive way. Evidence from this study will provide information regarding the effect of creatine supplementation on muscle function in DM. Improvements in muscle function and fatigue through CR use may also contribute to an improvement in quality of life and have significant clinical implications for the treatment of children with DM.


Eligibility Criteria:
Inclusion Criteria:

* Ages 7 to 18 years
* Diagnosis of probable JDM (onset \<16 years) according to Bohan and Peter criteria
* Subjects on a stable course of medication (unlikely to change over study treatment period as determined by the treating physician)
* Minimum height of 132.5cm

Exclusion Criteria:

* Subjects newly diagnosed with JDM within the previous 6 months
* Subjects unable to cooperate with study procedures, or too weak to participate in the exercise testing
* Subjects with impaired kidney function as determined from baseline visit screening lab values
* Subjects who are currently pregnant or planning to become pregnant within the study period
* Subjects who are shorter than 132.5cm
Long Term Safety of 125 mg Per Day of Oral Azimilide in Patients With Implantable Cardioverter Defibrillator (ICDs)

This is an open-label, multi-center, long-term, (open-ended) safety study with 125 mg per day of azimilide in patients who completed protocol 2000098.


Eligibility Criteria:
Inclusion Criteria:

* patients who completed at least 12 months on study 2000098 before inclusion in this study

Exclusion Criteria:

* breast feeding or plan to become pregnant
* used ticlopidine
* were taking Class I or other Class III drugs
Clinical Response and Safety Following FMT for UC

The study aims to evaluate the clinical efficacy and safety of fecal microbiota transplantation by automatic methods in the treatment of moderate to severe active ulcerative colitis. There are two groups according to FMT pathway ( through a naso-jejunal tube or transendoscopic enteral tubing). Patients were followed up until 2 weeks after the final FMT in hospital.


Eligibility Criteria:
Inclusion Criteria:

- Eligible patients required a diagnosis of ulcerative colitis made by a primary gastroenterologist based upon history, physical exam, laboratory/radiological studies and gastrointestinal histology. All patients were age ≥ 18 year old at the time of enrollment. They had moderate to severe symptoms with a mayo score between 6\~12 and an endoscopic subscore ≥2. Patient medication for UC could not have changed for at least one month prior to FMT.

Exclusion Criteria:

- Active or history of intraabdominal abscess, acute abdomen or other clinical emergencies requiring emergent management, pregnancy, prior history of FMT, prior history of TNF inhibitors use, or other serious systemic disease.
A Study to Assess the Safety and Effects of the Investigational Drug BW-40202 in Healthy Volunteers

This study will test the safety of a new drug called BW-40202 in healthy adults. The drug is a clear liquid given as an injection under the skin (subcutaneous injection). The study will test five different doses of BW-40202 compared to a placebo (saltwater solution).

Participants will be divided into five groups, with each group receiving a different dose of BW-40202 or placebo. In each group, eight people will be randomly assigned to receive either the drug (6 people) or placebo (2 people).

The Safety Review Committee will review the safety data before increasing the dose for the next group.

Study nurses or trained staff will give the injections. Pharmacy staff will keep records of how much drug each participant receives, any returned or destroyed doses, and any changes from the planned dosing schedule. These records will be securely stored and available for review.


Eligibility Criteria:
Key inclusion criteria:

1. Must have given written informed consent and be able to comply with all study requirements.
2. Males or females aged 18 to 60 years old, inclusive, at the time of informed consent.
3. BMI ≥18 and ≤32 kg/m2 with 50 kg \<body weight ≤100 kg.

Key exclusion criteria:

1. Any clinically significant chronic medical condition or clinically significant abnormality in laboratory parameters that, in the opinion of the investigator, makes the subject unsuitable for participation in the study.
2. Hospitalization for any reason within 60 days prior to screening.
3. Any clinically significant acute condition such as fever (\>38 degree centigrade) or acute respiratory illness within 14 days of study drug administration.
4. Systolic blood pressure (more than equal to) 140 mmHg and/or diastolic blood pressure (more than equal to) 90 mmHg after at least 5 minutes resting (seated or supine) at screening and Day -1(Repeat blood pressure measurement will be allowed at the discretion of the investigator).
5. Any liver function panel analyte value \> 1.2 × upper limits of normal (ULN) which includes aspartate transaminase (AST), alanine transaminase (ALT), total bilirubin (TBIL), alkaline phosphatase (ALP) and gamma-glutamyl transferase (GGT) at screening.
6. International normalized ratio (INR) above 1.2 × ULN at screening or Day -1.
7. Single 12-lead electrocardiogram (ECG) with clinically significant abnormalities at screening or Day -1, asdetermined by the clinical investigator.
8. History or clinical evidence of alcohol abuse,
9. History or clinical evidence of drug abuse, within the 12 months before screening.
10. Donated or lost \>200 mL of blood within 30 days prior to screening.
Fetal Pulmonary Artery Acceleration to Ejection Time Ratio (PATET) in the Prediction of Subsequent Development of Respiratory Distress Syndrome (RDS)

Fetal PATET ratio evaluation to predict neonatal RDS

115 patients were enrolled in this study.Population was recruited from singleton pregnancies beyond 27 weeks of gestation.All participants underwent a ultrasound examination to measure fetal pulmonary artery acceleration to ejection time ratio (PATET) by a single experienced clinician. After the delivery respiratory distress diagnosis made by a pediatrician who were blinded the doppler waveform measurements.Following the diagnosis, neonates divided into 2 groups as RDS (+) and RDS (-). In addition of RDS diagnosis, neonatal features like 1st and 5th minute APGAR scores, neonatal intensive care unit (NICU) admission and duration in NICU were also recorded. Afterwards all parameters were statistically analyzed if there is any significant differences between those two groups.

Eligibility Criteria:
Inclusion Criteria:

* pregnant women within the 27 weeks of gestation and beyond

Exclusion Criteria:

* patients who did not give birth within 3 days after the ultrasonographic doppler examination
* fetuses with Any congenital abnormalities
* amniotic fluid abnormalities
* any chronic maternal diseases or pregnancy complications such as;gestational diabetes mellitus,preeclampsia