cyrilzakka/clinical-trials huggingface dataset:
Development of the Tool " iPSC " for the Functional Study of Mutations Responsible for Mental Retardation

According to the World Health Organization (WHO), mental retardation (MR) is defined by an intelligence quotient (IQ) \< 70 and touches between 1 to 3 % of the general population. Profound mental retardation (QI \<25), severe (IQ: 25-40) and moderate (QI : 40-50) have a prevalence of 0,3-0,5% while the prevalence of mild MR, defined by an IQ between 50 and 70 is evaluated to about 1,5 %.

The origin of MR can be infectious, toxic, traumatic, genetic or environmental. genetic causes of MR gather the number and structure anomalies of the chromosomes, the genomic microreorganization, monogenic diseases and more rarely other non Mendelian-inherited anomalies like print or epigenetic anomalies, mutations of the mitochondrial genome etc... Genetic causes represents 50% of moderate to severe, whereas environmental factors (malnutrition, cultural deprivation,...) plays an important role in mild MR.

The main goal of this study is to get an innovative tool (neuronal distinction of iPSC) that wil allow to study the functionnal impact of mutations uppon genes probably involved in MR like MYT1L. The main criteria associated to characterisation of the tool by the trial is the study of the pluripotency of iPSC obtained and to highlight the mutation of the gene MYT1L in the iPSC.

Neurons from the iPSC of the patient and his father du patient wille also be morphologically characterised, but also thanks to the expression of specifically neurals genes.

Characteristics of iPSC and neurons from d'iPSC with MYT1L mutation will be compared among the patient and his father, in relation with the same cells coming from the two witnesses.


Eligibility Criteria:
Inclusion Criteria :

* Patient with an intellectual deficiency and/or associated signs that received a chromosomic analysis by CGH-array revealing a variant of unknown signification involvingone or more genes candidates for mental retardation.
* Certificate of genetic genetic counselling and signed consent.
* Under 18 persons may be necessary because intellectual deficiency is often diagnosed before the adult age.
* Number of cases is very limited in this preliminary study and only one patient showing a rare mutation of MYT1L gene and his father ( asymptomatic carrier of the same mutation) will be study.
* Affiliation to a social security system

Exclusion Criteria :

* Persons mentionned L1121-5 to L1121-8 of CSP (all protected persons)
* Persons suffering from acute infections for the practice of cutaneous biopsy under local anesthesia.
* Persons showing an hemostasis disorder acquired or induced
* Persons sous traitement antiagrégant anticoagulant
* Persons with a mutation in th gene MYT1L
Study to Demonstrate the Bioequivalence of Single Oral Administration of K-001 Relative to Single Oral Coadministration of Separate Tablets of K-877-ER and CSG452

The goal of this clinical trial is to demonstrate the bioequivalence of single oral administration of K-001 relative to single oral co-administration of separate tablets of K-877-ER and CSG452 in healthy adult volunteers, and to characterize the food effect on the Pharmacokinetics(PK) of K-001.


Eligibility Criteria:
Inclusion Criteria:

* Participant provides written informed consent before any study-specific evaluation is performed.
* Participant is a healthy adult male or female volunteer between the ages of 18 and 45 years, inclusive, at Screening.
* Participant has a body mass index of 18 to 30 kg/m2, inclusive, at Screening.
* Participant meet all other inclusion criteria outlined in the clinical study protocol.

Exclusion Criteria:

* Participant has clinically significant abnormalities at Screening or at Check-in assessments, in the opinion of the investigator.
* Participant is pregnant or breastfeeding or intends to become pregnant within 30 days after the last dose of study drug.
* Participant meets any other exclusion criteria outlined in the clinical study protocol.
Bioavailability Study of CoQ10 Formulations in Healthy Elderly Adults

The single-center, randomized, open-label, three-period crossover bioavailability study will include 21 subjects who will test three CoQ10 formulations. Subjects will test 3 formulations of single dose CoQ10 within first 3 weeks to assess bioavailability, which will be followed with 2 weeks of continuous administration of one of study formulations to demonstrate and assesse multiple-dose profile of CoQ10.


Eligibility Criteria:
Inclusion Criteria:

* Subject Informed consent form (ICF) is singed
* Aged between 65 and 74 years at the time of the signature of ICF
* A body mass index between 20 and 29 kg/m2
* Healthy, meaning absence of any prescribed medication for a month prior to the inclusion to the study and during the study
* Willing to avoid a consumption of any food supplements except vitamin D and calcium at least 2 weeks before and during the study
* Consumption of dairy and cereal products (standardised breakfast will include low lactose dairy and bread)
* Willing to follow all study procedures, including attending all site visits (including sessions during which a venous line will be inserted for blood sampling), and keeping a diary for the time of multiple-dose study (to follow their compliance and palatability)

Exclusion Criteria:

* Intake of any prescribed medication within 2 weeks of the beginning of the study
* Intake of any food supplements within 2 weeks of the beginning of the study, except vitamin D and calcium
* Hypotension
* Any clinically significant history of serious digestive tract, liver, kidney, cardiovascular or hematological disease, diabetes
* Gastrointestinal disorders or other serious acute or chronic diseases
* Known lactose/gluten intolerances/ food allergies (limitation for standardisation of meals)
* Inadequate veins (in the opinion of the investigator) or known contraindication to placement of a dedicated peripheral line for venous blood withdrawal
* Known drug and/or alcohol abuse
* Using any form of nicotine or tobacco
* Mental incapacity that precludes adequate understanding or cooperation
* Participation in another investigational study or blood donation within 3 months prior to or during this study
Periodontal Treatment With Diode Laser in the Patients With Diabetes Melitus

This study aimed to investigate the effects of diode laser (DL) in addition to non-surgical periodontal treatment on periodontal parameters, systemic inflammatory response, and serum hemoglobin A1c (HbA1c) level in patients with uncontrolled type 2 diabetes mellitus (T2DM) and chronic periodontitis.

This study was designed as a randomized, controlled, full-mouth, 6-month clinical trial. 37 patients (20 women and 17 men) with uncontrolled T2DM and chronic periodontitis who were selected from among those admitting to Dentistry Faculty of Inonu University and Turgut Ozal Medical Center completed this study. The patients were divided into two groups. The individuals in the control group underwent placebo laser treatment in addition to scaling and root planing (SRP). The individuals in the study group underwent DL (1 W power) in addition to SRP. Clinical index measurements were performed before treatment (T0), 3 months after treatment (T1), and 6 months after treatment (T2). Plaque index (PI), gingival index (GI), bleeding on probing (BOP), clinical attachment level (CAL), and probing depth (PD) were measured to determine periodontal status. HbA1c and C-reactive protein (CRP) levels were also analyzed using blood samples.

Eligibility Criteria:
Inclusion Criteria:

* Having a diagnosis of type-2 DM according to the ADA criteria for at least two years before the study, HbA1c⩾7%,28
* Having no change in antidiabetic drugs in the last 3 months,
* Having no major diabetes complications (because chronic complications of diabetes complicate metabolic control),
* Presence of generalized CP,29
* Presence of an area with a pocket depth of 4-7 mm in at least four teeth in the upper jaw,
* Presence of at least 20 teeth in the mouth,
* Having no any systemic illness except for DM,
* Having no smoke,
* Receiving no periodontal treatment in the last 12 months,
* Receiving no antibiotics or anti-inflammatory drugs for a long period in the last 6 months,
* Not being pregnant or not to breastfeed,
* Having no third molars.

Exclusion Criteria:

-
The Reducing Disparities in Access to kidNey Transplantation (RaDIANT) Community Study

The Southeastern Kidney Transplant Coalition is an academic-community collaboration between partners in the kidney disease community who share the common goal of eliminating health disparities in access to kidney transplantation among African American End Stage Renal Disease living in Georgia, North Carolina, and South Carolina. Volunteer members of this community-based coalition include patients with kidney disease, dialysis facility staff and providers, transplant centers, quality improvement organizations, and patient advocacy organizations. The burden of kidney disease is highest in the Southeast, and yet the rate of kidney transplantation is the lowest in the nation. Further, the investigators research suggests that racial disparities in access to kidney transplantation are concentrated in the Southeast, where African Americans are less likely to access each step in the transplant process. The long-term goal of the investigators Coalition is to use community- based participatory research approaches to develop, test, and disseminate sustainable, community interventions improve access to transplant for African American patients with kidney disease. The Reducing Disparities in Access to kidNey Transplantation (RaDIANT) community study proposes to use community-based participatory research methods to develop a multilevel intervention to reduce racial disparities in access to kidney transplantation. The long-term impact of this application will be to reduce racial disparities in the kidney disease community.


Eligibility Criteria:
Inclusion Criteria:

* Dialysis facilities within GA were considered for this intervention due to data restrictions. The remaining facilities were selected in a step-wise selection process 1) The presence of a racial disparity in referral or 2) a crude referral risk less than six percent.
* The presence of a racial disparity was based on the crude referral risk difference and the standardized referral risk difference.
* The remaining facilities had a calculated 6-month crude referral risk mean of 0.06 and all facilities with a crude referral risk less than the mean were selected for inclusion.
* The final pool of 134 facilities were randomized to either the intervention or control group using a one to one ratio.

Exclusion:

* Facilities with a 6-month population (from June-December 2012) of less than 13 End Stage Renal Disease patients \<70 years of age within a facility were excluded.
Clinical Analysis of Early Hormones Between Patients With Traumatic Brain Injury and Cerebral Hemorrhage

Our understanding of neurosecretory dysfunction after TBI is still insufficient, and the number of patients with neuroendocrine dysfunction caused by craniocerebral trauma may be underestimated, especially the neuroendocrine changes related to HPA axis in the early stage after craniocerebral trauma. Moreover, there are few and fragmentary literature data on the benefits of hormone replacement therapy in patients with neuroendocrine disorders after traumatic brain injury. This requires more studies to further determine the characteristics of pituitary function or hormone disorders in the early stage after traumatic brain injury, which makes it necessary for us to further study the neuroendocrine dysfunction (hormone disorder) in the early stage after craniocerebral injury. To explore the relationship between craniocerebral injury and early hormone disorder by measuring the changes of early hormone levels in patients with TBI is of great significance for the early detection of related complications after craniocerebral injury and the evaluation of the prognosis of patients with craniocerebral injury, and can provide a new diagnosis and treatment plan for early intervention of related complications after TBI.


Eligibility Criteria:
Inclusion Criteria:

1. Age ≥ 18 years old.
2. The patient was clearly diagnosed as craniocerebral injury.
3. The Glasgow score on admission was 3-12 (moderate and severe).
4. It has complete preclinical data.

Exclusion Criteria:

1. Complicated with other severe visceral injuries or severe systemic fractures.
2. Suffered from craniocerebral tumors, endocrine diseases, cardiovascular diseases, depression, sleep and mental disorders.
3. In the past month, there are people who receive immune and hormone therapy.
4. Women during pregnancy and lactation.
5. Where there is a logical or common sense error in the data entered.
6. The lack of too much clinical data related to this study.
Nurse vs General Practitioner Care for Patients Requesting Same Day Consultations in Primary Care

The purpose of this study is to compare the effectiveness of nursing care in relation to usual medical care in adult patients who demand to be visited the same day in Primary Care Teams in Catalonia, as it is suggested in other countries.

The primary care demand is rapidly growing and the family physicians feel overflowed by the demand and their capacity to solve things is limited by lack of time. Many organizational interventions have been planned to solve this problem. One of these is to imply the nurse professional to solve and control health problems that traditionally were the doctor's job. So, to demonstrate the nursing care is as effective as the medical care, we will compare, among both collectives, the 'quality' of care received by patients who ask an appointment for the same day.

Eligibility Criteria:
Inclusion Criteria:

* patients requesting same day consultations in primary care
* assigned to the practice

Exclusion Criteria:

* do not want to participate
* difficulties to follow-up
* serious illness that makes the intervention impossible
* home visits
Short Term Effects of Live Music in Newborn Infants

The purpose of this study is to determine the effects of live music on physiological parameters in newborn infants. The mother is asked about the effects of music on her own and the child's wellbeing.


Eligibility Criteria:
Inclusion Criteria:

* Gestational age ≥ 35 weeks
* signed informed consent of the parents
* positive proof of hearing ability (TEOAE, transitory evoked otoacoustic emission)
* positive 10-minute Apgar-Score \> 7

Exclusion Criteria:

* Heart defect or known cardiac arrhythmia
* other diseases of the preterm and newborn period (including infections and chromosomal aberrations)
* participation in other studies
A Study of Routine Versus Selective Use of Ultrasound Scanning Prior to Haemodialysis Fistula Surgery

Dialysis patients have their blood filtered by a machine as their kidneys no longer work. To get blood in and out of these patients it is possible to perform a surgical procedure to increase to size and durability of a vein in the arm to allow repeated needle insertion. This enlarged vein is called a fistula. There is some evidence that ultrasound scanning the blood vessels in the arm before surgery can improve the chances of a successful procedure. The investigators aim to test whether scanning all patients is better than scanning only those who are difficult to assess by physical examination alone.

We will recruit all patients undergoing primary vascular access procedures in our unit who meet inclusion criteria. They will be randomised to either surgery based on clinical findings with duplex ultrasound only if requested by surgeon, or routine duplex ultrasound prior to surgery.

Eligibility Criteria:
Inclusion Criteria:

* Specific inclusion criteria necessary for invitation to study participation; Patients referred to vascular consultants for primary AV fistula formation (or primary fistula in that limb) for haemodialysis access.

General inclusion criteria;

* Ability to give informed written consent

Exclusion Criteria:

* Specific exclusion criteria;

  * Previous arterial or venous surgery/intervention performed on target limb.
  * Known thrombophilic or thrombotic pathology.
  * Aged under 18 at time of referral

General exclusion criteria;

* Inability to give informed written consent
* Inability to attend follow up appointments
A Study of CAR-T Cells Targeting Both BCMA and GPRC5D in Treatment of Relapsed or Refractory Multiple Myeloma

An Open-Label, Dose Finding Study to Investigate the Safety, Pharmacokinetics, and Preliminary Efficacy of BMCA and GPRC5D dual target CAR-T cells therapy in Patients with relapsed or refractory multiple myeloma


Eligibility Criteria:
Inclusion Criteria:

* Signed and dated, written informed consent prior to any study specific procedures;
* Estimated life expectancy of minimum of 12 weeks;
* ECOG 0-2;
* Diagnosed as multiple myeloma according to the IMWG criteria;
* Evidence of cell membrane GPRC5D and/or BCMA expression, as determined by a validated immunohistochemistry (IHC) or flow cytometry of tumor tissue; Subjects should have measurable disease. At least meet one of the following criteria:

  1. If IgG type MM, serum M protein ≥10g/L; if IgA, IgD, IgE or IgM type MM, serum M protein ≥5g/L;
  2. urine M protein level ≥0.2g(200mg/24h);
  3. light chain type MM, serum free light chain (sFLC) ≥ 100mg / L and K/ λ FLC ratio is abnormal;
  4. there are extramedullary lesions;
* Subjects have had at least 3 prior lines of therapy including chemotherapy based on proteasome inhibitors (PIs) and immunomodulatory agents (IMiDs);
* Adequate organ functions

Exclusion Criteria:

* Active smoldering multiple myeloma;
* Active plasma cell leukemia;
* With organ amyloidosis;
* Central nervous system (CNS) involvement;
* Pregnant or breastfeeding;
* Hepatitis B virus (HBV) surface antigen (HBsAg) or hepatitis B core antibody-positive and detectable HBV DNA in peripheral blood; Hepatitis C virus (HCV) antibody and hepatitis C virus RNA in peripheral blood; Human immunodeficiency virus (HIV) antibody
* Uncontrolled Hypertension hypertension defined as a blood pressure (BP) ≥150/95 mmHg; Symptomatic heart failure per New York Heart Association Classification Class II, III or IV), Mean resting corrected QT interval corrected by Fridericia's formula (QTcF) \> 470 msec (female), 450 msec (male) obtained from ECG; Baseline left ventricular ejection fraction (LVEF) below institution's lower limit of normal (LLN) or \<50%;
* Have a history of another primary malignancy within 5 years prior to starting study treatment. Exceptions here are as follows: the disease under study; adequately treated basal or squamous cell carcinoma of the skin; cancer of the cervix in situ.
Exercise Prehabilitation Among Older Patients With Hematological Malignancies Preparing For CAR-T Cell Immunotherapy

The purpose of the study is to evaluate an exercise program for individuals preparing for Chimeric Antigen Receptor (CAR) T-cell immunotherapy for hematological malignancies.


Eligibility Criteria:
Inclusion Criteria:

* Age ≥65 years
* Lymphoma, leukemia, or myeloma with commercial FDA-approved CAR-T delivery planned for ≥4 weeks following enrollment
* Eastern Cooperative Oncology Group (ECOG) performance status 0-2
* Able to read and speak English fluently
* Capable of providing informed consent
* For optional, tele-supervised aerobic training procedure involving stationary bicycle delivery, participants must live within a 2-hour drive of Moffitt Cancer Center as determined via Google Maps.

Exclusion Criteria:

* Regular engagement in Resistance training (2x/week targeting all major muscle groups)
* Screen failure for exercise safety based on Physical Activity Readiness Questionnaire (PAR-Q) and Patient-Reported Measurement Information System (PROMIS) screening questions
* Underlying unstable cardiac or pulmonary disease or symptomatic cardiac disease (New York Heart Association functional class III or IV).
* Recent fracture or acute musculoskeletal injury that precludes ability to participate in RT using body weight
* Numeric pain rating scale of ≥ 7 out of 10
* Myopathic or rheumatologic disease that impacts physical function
* Cognitive, visual, or auditory limitations that preclude safe engagement in remotely-supervised resistance training sessions or independent aerobic exercise (as determined by patients' treating oncologists and specified in clinic notes outlining disease history).
Midodrine and Albumin for Cirrhotic Patients With Functional Renal Impairment

The objective of the study was evaluate the effect of administration of midodrine and albumin on renal function in patients with cirrhosis and creatinine greater than 1,2mg/dl.

Twenty patients with cirrhosis and functional renal impairment, defined by a serum creatinine greater than 1,2mg/dl, will be included. Patients will receive daily midodrine at a dose of 10mg tid and 40g of albumin at 15-day interval. The follow-up period will be of 12 weeks. In all patients, liver and renal function, and vasoactive hormones (plasma renin activity, aldosterone, noradrenaline, ADH, endothelin and anf)will be determined at baseline conditions. At this moment, glomerular filtration rate and renal plasma flow determined by isotopic techniques as ambulatory blood pressure monitoring through a 24-hour period will be performed too. All these determinations will be repeated at 4 and 12 weeks. During the study period, just before the albumin infusions, blood will be drawn for creatinine and electrolytes determinations and these will be recorded as well physical examination performed.

Eligibility Criteria:
Inclusion Criteria:

* Liver Cirrhosis
* Serum Creatinine greater than 1,2 mg/dL
* to have given written informed consent

Exclusion Criteria:

* pregnancy
* Systolic blood pressure above 150mmHg and/or diastolic blood pressure above 90mmHg
* Previous treatment with transjugular intrahepatic portosystemic shunt (TIPS) or surgical shunts
* Antibiotic treatment in the previous 7 days before inclusion, except for prophylaxis of spontaneous bacterial peritonitis
* infection by HIV
* contraindications for albumin and/or midodrine use
Bioequivalence of Two Formulations of Ondansetron in Healthy Adults (0869-106)

This study will assess the bioequivalence of a Merck clinical trial formulation of ondansetron compared to a non-U.S. marketed formulation of ondansetron.


Eligibility Criteria:
Inclusion Criteria:

* If female, subject is not pregnant or breast-feeding
* Subject has been a nonsmoker for at least 6 months
* Subject is in good health

Exclusion Criteria:

* Subject has a history of high blood pressure, asthma, other pulmonary disease, Gastrointestinal (GI) abnormalities/peptic ulcers, or cardiovascular, liver, neurologic, or kidney disease
* Subject is a habitual and heavy consumer of caffeine