cyrilzakka/clinical-trials huggingface dataset:
Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis

The goal of this clinical trial is to identify structural variants by Optical Genome Mapping (OGM) in the described participant population.

The main questions it aims to answer are:

* Identify constitutional structural variants by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive.
* Identify mosaic structural variants (present in a subpopulation of somatic cells only) by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive.
* Compare the diagnostic yields of OGM and of Comparative Genome Hybridization Array (CGH array) methods.
* Compare the diagnostic yields of the OGM and of Whole Genome Sequencing (National Sequencing Program), only if performed.

Participants will be required to:

* a follow-up interview with a physician to review their own and family medical and surgical history, with a focusing on DSD.
* An interview to assess their exposure to environmental pollutants during fetal life, using a validated questionnaire.
* a blood test with a 5mL tube to perform optical genome mapping analysis.

Patients with severe or moderate disorder of sex development (DSD) with a inconclusive molecular diagnosis will benefit from optical genome mapping analysis.

A venous blood sample on ethylenediaminetetraacetic acid (EDTA) tube (5mL) will be taken in order to extract the DNA that will be used for the optical genome mapping analysis.

Eligibility Criteria:
Inclusion Criteria:

* homogeneous XY male karyotype.
* patient at least 6 months old
* severe to moderate DSD (Prader 1 to 5) for which the molecular diagnosis is inconclusive after a gene panel analysis.

Exclusion Criteria:

* subject with a homogeneous or mosaic XX, or monosomal X karyotype.
* subject with an aneuploidy.
* subject with a conclusive molecular diagnosis explaining the observed DSD (i.e. carrier of a causal genotype already well characterized by functional studies)
Effect of Acupuncture on the Clinical Outcome of IVF-ET in Patients With Recurrent Implantation Failure

In order to explore the effect of acupuncture on the clinical outcome of IVF-ET in patients with recurrent implantation failure, the patients divide into the experimental group or the control group. In the experimental group, those patients undergo acupuncture at the beginning of embryo transfer cycle three times a week until 14 days after embryo transfer. In the control group, those patients do not receive any treatments during embryo transfer cycle. Statistical analysis of the two groups of primary endpoint and secondary endpoint are done.

In the field of assisted reproduction techonology, there are still 10% of patients with recurrent implantation failure. In order to explore the effect of acupuncture on the clinical outcome of IVF-ET in patients with recurrent implantation failure, the patients divide into the experimental group or the control group. In the experimental group, those patients undergo acupuncture at the beginning of embryo transfer cycle three times a week until 14 days after embryo transfer. In the control group, those patients do not receive any treatments during embryo transfer cycle. Both of two group patients are checked including endometrial receptivity index and fill in SAS anxiety scale form. Statistical analysis of the two groups of primary endpoint (clinical pregnancy rate) and secondary endpoint (embryo implantation rate, biochemical pregnancy rate, early pregnancy loss rate, ongoing pregnancy rate, live birth rate)are done.

Eligibility Criteria:
Inclusion Criteria:

1. A: ≥ 3 times embryo transfer failures，and at least accumulated 4 high-quality embryos were transferred

B: Two times consecutive embryo transfers failures, at least accumulated 4 high-quality embryos were transferred

2. Undergo IVF / ICSI / PGT;

3. Transfer 1-2 D3 cleavage embryos or blastocysts in IVF / ICSI and transfer 1 blastocyst in PGT;

4. 20-38 years old female

5. Sign the informed consent voluntarily.

Exclusion Criteria:

1. Contraindications for pregnancy or assisted reproductive technology;
2. Chromosome abnormality of husband or wife (except polymorphism);
3. Abnormal gene diseases;
4. Untreated of uterine diseases that affect the uterine cavity morphology (uterine malformation, submucous myoma, adenomyosis, endometriosis and endometriosis etc.);
5. AMH \< 1.1ng/ml or AFC \< 7;
6. The most thickness of endometrium is less than 7 millimeter;
7. Those who have more than 2 times clinical pregnancy abortion;
8. Patients with serious primary diseases including cardiovascular, cerebrovascular, liver, kidney and hematopoietic system and mental diseases
9. The treatment (such as acupuncture and traditional Chinese Medicine) related to help pregnancy had been carried out in the last 3 months.
To Assess the Safety, Tolerability and Pharmacokinetics of ACH-000029 in Healthy Subjects

Randomized single ascending dose placebo controlled treatment of ACH-000029 administered orally via capsule in healthy volunteers.

This study will be conducted in up to 3 dosing groups of 8 total subjects each.

The purpose of this trial is to determine the safety and tolerability of a single dose of ACH-000029 or placebo.

Eligibility Criteria:
Inclusion Criteria:

* Healthy male or non-childbearing potential female.
* Surgically sterile male and female.

Exclusion Criteria:

* Breastfeeding female subjects.
* Clinical abnormal past medical history.
* History of drug and/or alcohol abuse within 2 years prior to screening.
* History of or current hepatitis or acquired immunodeficiency syndrome or carriers of hepatitis B surface antigen and/or anti-hepatitis C virus antibodies, or human immunodeficiency virus (HIV) antibodies.
* History of any significant drug allergy or known or suspected hypersensitivity.
* A positive urine or breath alcohol test and/or urine drug screen for substances of abuse at screening or upon admission to the trial site (Day -1).
* Subjects having taken an investigational drug within 30 days prior to screening or a biological investigational product within 30 days or 5 half-lives (whichever is longer) preceding screening, except the last dose of severe acute respiratory syndrome coronavirus (SARS-CoV-2 \[COVID-19\]) vaccine, which must be administered at least 7 days prior to screening.
* Any history of significant bleeding or hemorrhagic tendencies.
* Any history of difficulty in donating blood.
* The donation of blood or plasma within 30 days prior to the first dose of IMP.
* Use of prescription, over-the-counter, or herbal medications or vitamin supplements within 14 days prior to the first dose of IMP and oral antibiotics within 30 days prior to the first dose of IMP.
* Use of tobacco products or daily exposure to second-hand smoke within 2 months prior to the screening visit.
* Presenting with, or having a history of, uncontrolled hypertension (SBP \> 140 mmHg or DBP \> 90 mmHg) or symptomatic hypotension, or orthostatic hypotension, which is defined as a decrease of ≥ 30 mmHg in SBP or a decrease of ≥ 20 mmHg in DBP after at least 3 minutes of standing compared with the previous supine BP, OR development of symptoms.
* Supine HR, after resting for at least 3 minutes, outside the range of 50 to 90 bpm.
* Abnormal ECG findings at screening or check-in.
* History of unexplained syncope, where orthostatic likely event.
* Personal or family history of sudden death or long QT syndrome.
* History of serious mental disorders that, in the opinion of the investigator, would exclude the subject from participating in this trial.
* No permanent place of residence.
* Subjects with active suicidal ideation prior to dosing.
Serological Screening of Gastric Cancer in Wuxi Region

The purpose of this study is to determine whether detection of pepsinogen Ⅰand Ⅱ combined with Helicobacter pylori antibody, so-called ABC method , is fit on gastric cancer screening in community of Wuxi City.

Gastric cancer is the third largest cause of cancer related deaths in China with about 350 ,000 gastric cancer-related deaths by gastric cancer in 2012. The studies from Japan and Korea have found gastric cancer screening, especially of the mass population, reduces mortality from gastric cancer, but the data is seldom in China. The ways include radiographic and endoscopic screening, although those methods were shown to reduce gastric cancer mortality, and was recommended as gold standard for population-based screening by Japan and Korea, but many problems have been pointed out: A serious drawback is low uptake of the target population; fear for radiation exposure(0.6 mSv), swallowing unpleasantness due to the use of barium meal, accidental fall during the examination and constipation, causing rare but more serious complications such as intestinal obstruction or diverticulitis after examination may account for the reasons for this low uptake, endoscopic screening is labor-intensive, more costly per examination as complete disinfection of the scope is mandatory, and requires a large number of well-trained experienced endoscopists.

Serological method, so-called ABC method , has been useful as gastric cancer preliminary screening in some areas, such as China, Japan and Korea. The major reasons are attributed to its simplicity, safety (radiation-free, discomfort free), and cost-efficiency. The ABC method is a blood test to stratify the risk of gastric cancer using the combination of H. pylori antibody and pepsinogen I and II, that was documented by large-scale studies in Japan. But the data was short in China, especially in the community.

Eligibility Criteria:
Inclusion Criteria:

Age 40-70 years old, men and women are not limited, and there are one of the following:

1. Hp infected.
2. Previously suffering from chronic atrophic gastritis, gastric ulcer, gastric polyps, hypertrophic gastritis, pernicious anemia and other precancerous diseases of the stomach.
3. First degree relatives of patients with gastric cancer.
4. Other risk factors for gastric cancer. (high salt, salted diet, smoking, heavy drinking, etc.)

Exclusion Criteria:

1. Severe heart, liver, kidney, dysfunction or mental disorders
2. History of gastric surgery (including surgery, minimally invasive EMR, ESD)
3. Use of PPI, acid preparation, stomach protecting agent in the first two weeks
4. The researchers considered inappropriate participants.
5. Informed consent cannot be attained
Observational Study of Patients Suffering From Endometriosis and Adenomyosis

Endometriosis and adenomyosis are chronic difficult diseases affecting a significant proportion of reproductive age women. it is hoped that the investigators can collect the health profile of these participants using structured questionnaires on their quality of life, reproductive health, collect the sonographic characteristics, identify the risks factors of participants suffering from severe disease, and to propose the best treatment modality for different patient groups, both with and without fertility wish.

Endometriosis and adenomyosis are chronic difficult diseases affecting a significant proportion of reproductive age women. Not only the disease can lead to chronic pelvic pain, dyspareunia and dysmenorrhea, it is also associated with impaired reproductive health, infertility and tubal-peritoneal disease. Adenomyosis can also result in anaemia due to the increased uterine volume and menstrual blood loss. Different treatment options are available for this group of participants, ranging from simple medical treatment to control symptoms, such as analgesics for pain control, transexemic acid to reduce menstrual blood loss, to hormonal treatment and the more radical surgical treatment.

As a tertiary gynaecology referral centre, the investigators encounter a large volume of patients suffering from endometriosis and adenomyosis of different disease severity. Through this prospective observational study, it is hoped that the investigators can collect the health profile of participants using structured questionnaires on their quality of life, reproductive health, collect the sonographic characteristics, identify the risks factors of patients suffering from severe disease, and to propose the best treatment modality for different participant groups, both with and without fertility wish.

Patients attending the pelvic mass clinic/ endometriosis clinic with the histologically confirmed or sonographic evidence of endometriosis/ adenomyosis will be invited to participate in the prospective study. Their demographic data will be collected. Symptomatology and health profile will be collected via questionnaires (e.g.EHP-30, SF 36, FSFI) to evaluate the physical, psychological, sexual and social aspects of patients affecting by the disease. Menstrual chart with be recorded. Physical examination including abdominal and pelvic examination will be performed. Pelvic sonography will be offered and recorded systematically. Different medical/ surgical treatments will be offered based on patient's clinical condition in an evidence-based approach and clinical guidance. Their treatment outcome will be assessed during the follow-up. Surgical findings will be recorded and disease severity graded by use of AFS scores. Pathological findings will be evaluated.

Eligibility Criteria:
Inclusion Criteria:

* with endometriosis or adenomyosis confirmed by ultrasound or MRI

Exclusion Criteria:

* refuse to participate in the study, less than 18 years old, menopausal, illiterate or mentally incapable
Tafluprost-Timolol Preservative-free Fixed Dose Combination (FDC) Superiority Study Against Monotherapies

The purpose of this study is to compare the efficacy and safety of the preservative-free fixed tafluprost-timolol combination to those of tafluprost and timolol alone. This study will enroll patients who have ocular hypertension or glaucoma and who are using timolol or prostaglandin.

The study medication period is 6 months, but the primary evaluation of efficacy is done at 3 months.


Eligibility Criteria:
Inclusion Criteria:

* Aged 18 years or more
* A diagnosis of ocular hypertension or open-angle glaucoma and prior use of timolol or prostaglandin.
* Meet specific IOP level at visit 1 (screening), visit 2 (run-in) and visit 3 (baseline).
* Meet specific visual acuity score
* Are willing to follow instructions
* Have provided a written informed consent

Exclusion Criteria:

* Females who are pregnant, nursing or planning pregnancy
* IOP of 35 mmHg or greater
* Diagnosis of angle-closure glaucoma or secondary glaucoma other than capsular or pigmentary glaucoma in either eye
* Suspected contraindication or hypersensitivity to study medications tafluprost or timolol (e.g. asthma, low pulse)or to wash-out medication brinzolamide
* Glaucoma filtration surgery or any other ocular surgery (including ocular laser procedures) within 6 months prior to Screening
* Use of contact lenses at Screening or during the study
* Presence of any abnormality or significant illness that could be expected to interfere with the patient safety or study parameters
* Current participation in another clinical trial within the last 30 days
Study on FOLFOX6 as First-line Therapy to Treat Recurrent or Metastatic Esophageal Cancer

The aim of this study is to explore whether FOLFOX6 as treatment could improve the time to progression (TTP) and overall survival (OS) of the patient with recurrent or metastatic esophagus.

Explore whether FOLFOX6 as treatment could improve the TTP and OS of the patient with recurrent or metastatic esophagus

Eligibility Criteria:
Inclusion Criteria:

1. Histologically proven primary thoracic esophageal squamous cell carcinoma
2. Without chemotherapy or neo-adjuvant chemotherapy in 6 weeks ,radiotherapy has end at least 1 month,target lesion was not in an irradiated area.
3. Presence of at least one index lesion measurable by CT scan or MRI
4. 18\~75 years
5. kps ≥ 70
6. Life expectancy of ≥ 3 months
7. ANC ≥ 2×109/L，PLT ≥ 100×109/L，Hb ≥ 90g/L
8. Cr ≤ 1.0×UNL
9. TB ≤ 1.25×UNL； ALT/AST ≤ 2.5×UNL，THE patient with liver metastasis ALT/AST ≤ 5.0×UNL；AKP ≤ 2.5×UNL
10. Signed written informed consent

Exclusion Criteria:

1. Previous exposure to oxa therapy in one year
2. diameter of tumor abdominal ≥ 10cm, Total volumes of liver lesions ≥ 50%,lung metastasis ≥ 25% total lung
3. chronic diarrhea,enteritis,intestine obstruction which are not under control
4. Psychiatric or addictive disorders that preclude obtaining informed consent or adherence to protocol.
5. peripheral neuropathy ≥ CTCAE 1
6. Other serious disease
7. Previous or concomitant malignancies except non-melanoma skin cancer, carcinoma in situ of the cervix, and invasive carcinoma of the colon, thyroid, cervix, or endometrium treated five years prior to study entry.
8. USE OTHER ANTITUMOR THERAPY
9. Breast-feeding or pregnant women, no effective contraception if risk of conception exists
Quetiapine to Reduce Post Concussive Syndrome After Mild Traumatic Brain Injury (mTBI)

A two site, 2-arm, Phase III randomized pragmatic clinical trial evaluating the effectiveness of quetiapine monotherapy in comparison to Treatment As Usual (TAU) medication management for symptoms experienced by veterans receiving rehabilitation therapy for mild traumatic brain injury (mTBI) and comorbid symptoms of posttraumatic stress disorder (PTSD).


Eligibility Criteria:
Inclusion Criteria:

1. Male or female veterans seeking treatment for mTBI, aged 18-65 years
2. Meet mTBI diagnosis and have PCS symptoms reported on the Neurobehavioral Symptom Inventory (NSI). Six months or more must elapse between the injury and Screening. mTBI diagnosis will be determined using the provisional diagnostic convention recommended by the VA/DoD requiring loss of consciousness, or a period of altered consciousness, or posttraumatic amnesia;
3. Be stable (i.e., no dose changes for \> 1 month) on at least three CNS active psychotropic medications prescribed for symptom relief or psychiatric treatment.
4. Have posttraumatic symptoms measured by PTSD Checklist for DSM-5 (PCL-5) score ≥25.

Exclusion Criteria:

1. Moderate or severe TBI, or major neurocognitive disorder (dementia).
2. Meet DSM-5 criteria for schizophrenia, bipolar disorder, schizoaffective disorder, or requiring inpatient hospitalization currently or within past 6 months.
3. Currently taking any antipsychotics or prohibited medication within the past month .
4. Known intolerance to quetiapine or a history of clinically unstable heart, lung, liver, renal, hematological, or endocrinological condition, diabetes mellitus, severe sleep apnea and/or seizure disorder.
5. Substance use disorder severe enough to require medication treatment or medical detoxification or inpatient hospitalization within 6 months of screening.
6. Reporting suicidal ideation of type 4 or 5 in the Columbia Suicide Severity Rating Scale (CSSRS) in the past 3 months prior to screening or at screening or baseline visit (i.e. active suicidal thought with method and intent but without specific plan, or active suicidal thought with method, intent, and plan); or homicidal ideation with intent or plan to harm others within 90 days or suicide attempt; or suicidal behavior within 6 months prior to screening.

   (Note: Study psychiatrist will be immediately notified when SI or HI intent is positive)
7. Current or known history of cardiac arrhythmia or QTc interval ≥ 470 milliseconds.
8. Pregnant or lactating women and those of child-bearing potential not using a reliable method of contraception will be excluded from participating in the study.
Trial to Define the Safety and Tolerability of SGN-40, Rituximab, and Gemcitabine in Patients With DLBCL

The purpose of this study is to determine safety and tolerability of combination therapy of SGN-40 with gemcitabine and rituximab for the treatment of lymphoma. This study is also intended to estimate how well your disease responds to this treatment.


Eligibility Criteria:
Inclusion Criteria:

* Have a histologic diagnosis of DLBCL, including transformed histology and follicular grade 3 disease.
* Must have at least one site of biopsy-proven disease demonstrating both of the following: bidimensional measurable disease with the longest axis \>= 1.5cm by radiographic imaging or positive FDG-PET scan at baseline.
* Patients with DLBCL and who have either relapsed, refractory, or progressive disease following salvage therapy, OR relapsed, refractory, or progressive disease following initial therapy and be medically unfit to receive aggressive therapy.
* Either fresh or archived tumor specimen must be available.

Exclusion Criteria:

* Documented history within 6 months of registration of a cerebral vascular event, unstable angina, myocardial infarction, or cardiac symptoms.
* Patients who have received allogeneic stem cell transplant.
* Patients with evidence of another invasive primary malignancy within the past three years other than non-melanoma skin cancer, cervical carcinoma in situ, in situ carcinoma of the breast, or fully resected prostate cancer with normal PSA within 8 weeks of registration.
* Patients with any active systemic viral, bacterial, or fungal infection requiring intravenous anti-infectives within 4 weeks prior to first dose of study drug.
* Patients with a history or clinical evidence of leptomeningeal or central nervous system (CNS) lymphoma.
Cardiovascular Health in Postpartum Women Diagnosed With Excessive Gestational Weight Gain

The investigators will test the efficacy of a tailored behavioral lifestyle modification program to support cardiovascular health in postpartum women with excessive gestational weight gain. This program will include a mobile health texting component postpartum to support changes in nutrition and physical activity. The investigators will randomize women into either the control arm (usual care) or the intervention (usual care + mobile health program postpartum). The women will be recruited during their 3rd trimester once they have been identified as gaining too much weight according to the 2009 IOM guidelines during pregnancy.


Eligibility Criteria:
Inclusion Criteria:

* Pregnant woman diagnosed with excessive gestational weight at 24 weeks gestation or later
* Age 18 years or older
* English-speaking, and willing and able to participate in the proposed intervention.

Exclusion Criteria:

* Inability to provide informed consent and/or an inability to speak, read, or understand English
* Primary residence is outside of the immediate catchment area of 10 miles
* Physical or mental challenges that precludes them from exercising or returning for scheduled study follow ups
* Concurrent enrollment in another behavior modification program