cyrilzakka/clinical-trials huggingface dataset:
Interactions Between Striatum and Cerebellum in ADCY5 and PRRT2 Dystonias

The investigators will study the relationship between the basal ganglia and the cerebellum in dystonia by associating cerebellar stimulations with functional magnetic resonance imaging analysis.

Although dysfunctions in both basal ganglia and cerebellum in dystonia are well documented, the functional relationships between these two important motor control networks remains unclear in the context of dystonia. Here the investigators propose to tackle this issue by associating cerebellar stimulations with functional analysis using fMRI in dystonic patients.

The working hypothesis is that the primary torsion dystonia (PTD) pathophysiology involves dysfunction of striatum that is amplified by dysregulation of the cerebello-thalamo-striatal pathway.

The project is to study dystonia forms resulting primarily from dysfunctions of the striatum (patients with mutation of the ADCY5 gene) and compare them with patients with putative dysfunction of the cerebellum (patients with mutation of the PRRT2 gene) and healthy controls. In these patients, the investigators will look for (1) how cerebello-thalamo striatal pathway can be influenced by striatal dysfunctions and (2) whether cerebellar stimulation may prevent (or worsen?) the disrupted activity in the basal ganglia and (3) whether striatum-related dystonia share the same abnormal network with another form of dystonia resulting from another dysfunction (patients with PRRT2 mutation).

Eligibility Criteria:
Inclusion Criteria:

* clinical diagnosis of Dystonia
* characterized ADCY5 or PRRT2 mutation
* must have a European Social Security card or a parent having an European Social Security card
* must be older than \> 15 years 3 months
* must be able to give informed consent or, for minor patients, parents must be able to give informed consent
* must be able to comply with all study procedures, based on the judgment by the investigator(s).

Exclusion Criteria:

* major depression or any major mental disorders (axis I disorders)
* neurologic disorder other than dystonia
* presence of pacemaker, intracardiac lines, implanted pumps or stimulators, or metal objects inside the eye or skull, cochlear implant
* Permanent makeup of lips or eyelids
* Black large tattoo close to the head
* Severe claustrophobia
* Current pregnancy or breast feeding
* Copper intrauterine device Subjects with one of the following exclusion criteria will not receive cerebellar stimulation
* Open scalp wounds or scalp infection,
* epilepsy or seizures
* Taking at the time of the study: ketamine, antidepressants, ganciclovir, ritonavir, amphetamines, antiemetic.
The Effect of Adding Auditory Information on Head Movements in People With Non-traumatic Neck Pain

This study sets out to investigate the potential effect of auditory disturbances on human movement

Clinicians routinely investigate/test human movement but if/how this is effect by auditory disturbances is unclear. This study sets out to investigate the impact of auditory disturbances on head movements.

Eligibility Criteria:
Control group:

Inclusion Criteria (Control):

* Able to speak, read and understand Danish/English

Exclusion Criteria (Control):

* Pain from the neck or shoulder area during the past 6 months
* Experience of delayed onset muscle soreness (DOMS) during the week leading up to the test session
* Former surgery in neck or shoulder
* Current or previous chronic or recurrent pain condition that could affect the results
* Pregnancy
* Drug addiction defined as the use of cannabis, opioids or other drugs
* Previous neurologic, musculoskeletal or mental illnesses that could affect the results
* Regular use of analgesics
* Abnormally disrupted sleep in the last 24 hours preceding the experiment
* Lack of ability to cooperate

Neck pain group:

Inclusion Criteria (Neck Pain):

* Idiopathic neck pain
* Able to speak, read and understand Danish/English
* Reduced/painful active range of motion of the head and/or painful reaction to palpation of the neck at the time of inclusion

Exclusion Criteria (Neck Pain):

* Experience of DOMS during the week leading up to the test session
* Former surgery in neck or shoulder
* Pregnancy
* Drug addiction defined as the use of cannabis, opioids or other drugs
* Previous neurologic, musculoskeletal (other than neck pain) or mental illnesses that could affect the results
* Abnormally disrupted sleep in the 24 hours preceding the experiment
* Lack of ability to cooperate
Non-Steroidal Anti-inflammatory Drugs in Axial Spondyloarthritis

This is a 6-week randomized, double-blind trial of 4 different non-steroidal anti-inflammatory drugs in patients with axial spondyloarthritis to compare the change of pain score from baseline at 4 weeks to the change of pain score from baseline at 6 weeks.

Patients with ankylosing spondylitis or axial spondyloarthritis who fulfills the inclusion and exclusion criteria will be randomized into one of the four arms after an initial one week washout period, including: 1) indomethacin 75mg every 12 hours (Q12H); 2) diclofenac 75mg Q12H; 3) meloxicam 7.5mg Q12H; 4) celecoxib 200mg Q12H. The treatment length will be 6 weeks. Primary outcome is the change of pain score from baseline to week 4 and to week 6.

Eligibility Criteria:
Inclusion Criteria:

* A clinical diagnosis of ankylosing spondylitis (AS) by treating rheumatologists, or a diagnosis of axial spondyloarthritis (axSpA) with a pelvis MRI with significant bone marrow edema on STIR sequences;
* Minimum of 18 years old;
* Are taking NSAIDs on a regular basis for AS or axSpA (defined as more than 20 days in the past month) and willing to withhold medication for one week; or having active symptoms that require initiation of NSAIDs;
* Concomitant anti-rheumatic drugs are allowed, if the dose has been stable for the past three months;
* Have active disease after initial washout period, defined by BASDAI \>=4/10, or back pain numerical rating scale (NRS)\>=4/10

Exclusion Criteria:

* Patients who have concurrent rheumatic diseases other than AS or axSpA;
* Patients who have oral corticosteroid in the past two weeks; patients who have acute peripheral arthritis;
* Patients with a fibromyalgia score \>= 13;
* Patient with extensive cardiac history, history of gastrointestinal bleeding that required blood transfusion, chronic kidney diseases, abnormal liver function tests; or female patients who are pregnant.

Use of low-dose of aspirin (\<100mg daily) is allowed in the study.
Effect of Sorafenib or Regorafenib on P63 Expression and Keratinocyte Differentiation in Human Skin

Skin toxicity is a frequently observed side effect in the era of "molecularly targeted therapies". Skin toxicity following administration of protein kinase inhibitors such as sorafenib, regorafenib, lapatinib, sunitinib, and others can be debilitating to the patient, resulting in dose reduction and discontinuation of treatment. The mechanisms of skin toxicity induced by targeted chemotherapy, such as sorafenib or regorafenib, are poorly understood. Further research is warranted to better understand the pathophysiology of drug-related skin toxicity in this setting and develop correction strategies. This study tests the hypothesis that sorafenib and regorafenib interfere with p63 expression and keratinocyte differentiation and skin remodeling.

Eligible study participants will be evaluated clinically for evidence of skin toxicity during their visits to the outpatient Oncology clinics. Study participants will undergo skin biopsies before sorafenib or regorafenib treatment is initiated and once rash develops or 12 weeks into treatment with sorafenib or regorafenib. Skin biopsies will be performed in Oncology clinics by the study investigators and clinic support staff.

Study participants will undergo both skin biopsies regardless of whether they develop a rash. In patients who develop a rash the most representative lesion will be biopsied. A normal appearing area of skin will be biopsied in participants who do not develop a rash.


Eligibility Criteria:
Inclusion Criteria:

1. Male or female, 18 years old or older.
2. Histologically or cytologically confirmed diagnosis of a solid tumor (RCC, HCC, or colorectal cancer).
3. Participants are planning to initiate treatment with either sorafenib or regorafenib as a single chemotherapeutic agent
4. Able to swallow and retain oral medication and does not have any clinically relevant, active gastrointestinal disease or other condition that may significantly alter absorption, distribution, metabolism, or excretion of drugs.
5. Be able to provide written informed consent.

Exclusion Criteria

1. Patients who are or will be receiving other chemotherapeutic or molecularly targeted agents in addition to sorafenib or regorafenib
2. Concurrent moderate or severe chronic inflammatory skin condition (eczema, psoriasis)
3. Concurrent blistering skin disorder of any severity (such as pemphigus, bullous pemphigoid)
4. Connective tissue disorders with skin involvement (systemic lupus erythematosus, scleroderma, dermatomyositis, etc.)
5. Patients manifesting an allergic skin reaction (such as urticaria) or skin reaction as a complication of prior chemotherapy
6. Patients with skin lesions of infectious or non-infectious cause, precluding skin biopsy
7. Patients not willing to undergo skin biopsy
8. Patients who are pregnant or planning to become pregnant during their participation in the study.
9. Chemotherapy, targeted therapy, or biological therapy within two weeks of start of treatment.
10. Ability to give informed consent is compromised by cognitive and/or decisional impairment.
Mitral Valve Prolapse (MVP) - France Study

This prospective nation-wide (France) study aims to search for susceptibility genes in MVP using a genome wide analysis and comparing results obtained in 1000 patients with MVP and 1000 non-MVP subjects.

Two MVP populations will be defined in that study, either with the classical Barlow (myxomatous) disease or the fibroelastic degenerescence (thin and redundant leaflets).

MVP adult patients (\> 18 year-old) will be included if they present the following 1) or 2) criteria :

1. 2D-echocardiographic mitral leaflet prolapse on the parasternal long-axis view \> 2 mm AND leaflet thickness \> 4 mm or mitral regurgitation \> 2 + (using color Doppler)
2. Previous surgery for pure severe mitral regurgitation due to MVP with Barlow disease or fibroelastic degenerescence (with operative report available)

Patients will be excluded in case of associated heart disease (hypertrophic cardiomyopathy, rheumatismal disease...) or syndromic disease (Marfan, Ehlers-Danlos...).

Around 30 (cardiology, cardiovascular surgery) french centers will participate to this study. An e-CRF will be used to collect clinical data. A genetic core lab will collect the DNA samples. An echocardiographic core lab will collect and read all the echo recordings.

DNA analysis will be compared between the patient group and spouses of the patients used as controls. In case of inadequacies concerning group size or age, available genotyped cohorts will be used.

Eligibility Criteria:
Inclusion criteria for MVP patients :

* Male or female subject ≥18 years
* Affiliation to the French social insurance system
* Written informed consent
* Idiopathic MVP defined by the presence of criteria 1) and 2) OR of criterion 3) :

  1. Echographic MVP \> 2 mm on the left ventricular parasternal long-axis view
  2. Echographic myxomatous valve (thickness \> 4 mm) or significant mitral regurgitation (\> 2 + using color Doppler)
  3. History of mitral valve surgery for pure mitral regurgitation due to MVP (myxomatous or fibroelastic deficiency) with available detailed operative report.

Exclusion criteria :

* Presence of heart disease causing MVP (rheumatic, HCM...)
* Syndromic disease (Marfan, Ehlers-Danlos...)

Inclusion criteria for healthy subject :

* Male or female subject ≥40 years
* Absence of MVP or absence of mitral valve dystrophy
* Caucasian
Tumor Microenvironmental Collagen Signature to Predict Thyroid Cancer Superior Mediastinal Lymph Node Metastasis

About 7-13% thyroid cancer patients have superior mediastinal lymph node metastasis, but its clinical identification is insufficient. Effective and individualized identification strategy need to be studied. Multiphoton imaging can accurately detect extracellular matrix collagen fibers by femtosecond laser. Quantitative features such as morphology and texture features extracted from the multiphoton images, can be used to predict lymph node metastasis of gastrointestinal cancer. Therefore, the investigators speculate that the characteristics of tumor microenvironment (TME) collagen based on multiphoton imaging may be used to predict superior mediastinal lymph node metastasis in thyroid cancer. The aim of this study is to investigate whether the TME collagen signature could predict superior mediastinal lymph nodes metastasis in thyroid cancer. The exposure of this observational cohort study is high TME collagen signature. The main measurement was the area under the receiver operating characteristic (AUROC) curves of collagen signature for predicting superior mediastinal lymph node metastasis.

Retrospective cohorts were enrolled from the Sir Run Run Shaw Hospital of Zhejiang University School of Medicine, The First Affiliated Hospital of Zhengzhou University and Nanfang Hospital from January 2020 to December 2023. Perspective cohort was obtained from all the three centers from January 2024 to July 2024.

Eligibility Criteria:
Inclusion Criteria:

* Pathologically diagnosed as thyroid cancer
* Radical surgery of tumor and simultaneous resection of superior mediastinal lymph nodes

Exclusion Criteria:

* Reoperation
* Under the age of 18
* Combined with thoracopathy, lymphoma or other diseases that may cause mediastinal lymph node enlargement
* The superior mediastinal lymph nodes metastasis status was not separately reported
* Insufficient pathology section quality
* Pregnancy
Dose Finding Study for Effective Reversal of a Deep Rocuronium-induced Neuromuscular Block With Sugammadex in Morbidly Obese Patients

During laparoscopic bariatric surgery, adequate muscle relaxation is important to maintain good surgical conditions. To achieve this muscle relaxation, neuromuscular transmission blocking agents, such as rocuronium (Esmeron®) are used. It sometimes happens that there is still some neuromuscular blocking activity left in the patient on awakening from anesthesia. This is called residual curarization and is known to cause postoperative complications such as impairment of respiratory function.

Sugammadex (Bridion®) is a novel drug which selectively binds rocuronium (Esmeron®). It allows for reversing of neuromuscular transmission blocking activity. Until now, all studies with sugammadex were performed in non-obese patients.

Obese patient have a high risk to suffer from post-operative respiratory failure. Therefore it is vital to avoid residual curarization. Sugammadex might be an important factor.

Obese patients have a large total body weight different from ideal body weight. Recent research demonstrated that the dose for the neuromuscular blocking agent rocuronium (Esmeron®) needs to be calculated on the patients' Ideal Body Weight rather than on Total Body Weight.

At this moment no data is available on the dose-response relationship of sugammadex in morbidly obese patients.

We hypothesize that in morbidly obese patients sugammadex should be dosed on ideal bodyweight, instead of total bodyweight.

Flowchart :

72 participants

Stratification

BMI\<50 BMI \>50

Randomization Randomization

TBW IBW TBW IBW

2mg/kg n=9 2mg/kg n=9 2mg/kg n=9 2mg/kg n=9 4mg/kg n=9 4mg/kg n=9 4mg/kg n=9 4mg/kg n=9

TBW : Total Body Weight IBW : Ideal Body Weight

Eligibility Criteria:
Inclusion criteria :

* ASA I-II-III
* Age 18 - 65 year
* Male or female
* BMI \> 30

Exclusion criteria :

* Renal failure
* Liver dysfunction
* Breastfeeding female patients, or female patients without reliable contraception
* Neuromuscular disease
* Malignant hyperthermia or a family history of malignant hyperthermia
* Allergy for neuromuscular blocking agents or other medications used during general anesthesia
* Infectious disease or patients with fever
* Patients who already received rocuronium or sugammadex on the day of the study
Turning Performance in Stroke

Turning is a challenging task for stroke patient. Previous studies showed that turning is one of the activities which resulting in falling frequently in stroke. However, the assessment tool of turning performance is still lack of reliability and validity. Furthermore, the main factors which affected turning ability in stroke are not approved yet.


Eligibility Criteria:
Inclusion Criteria:

* 6 months after first stroke.
* Able to independently walk 7 meter at least without any device
* MMSE score ≧ 24

Exclusion Criteria:

* Unstable medical conditions (such as deep vein thrombosis)
* Any disease which has known affecting walk(heart failure, diabetes)
Retarded Surgery Following Neoadjuvant Chemotherapy in Advanced Ovarian Cancer

The aim of CHRONO trial is to compare the DFS when surgery is performed after 3 courses of NACT, or after 6 courses of NACT, in a prospective multi institutional randomized setting,considering only patients initially unsuitable for primary surgery.


Eligibility Criteria:
Inclusion Criteria:

1. Female patients ≥18 years.
2. Histologically confirmed epithelial ovarian cancer, fallopian tube carcinoma or primary peritoneal carcinoma, high grade serous or endometrioïd, with the exception of mucinous, clear cell and carcinosarcoma histologies.
3. Performance status \< 2 (see Appendix 2).
4. Documented International Federation of Gynecologic Oncology (FIGO 2014, Appendix 1) stage IIIB-IIIC-IVa unsuitable for complete primary cytoreductive surgery (confirmed by open laparoscopy or by laparotomy \[not mandatory for stage IVA\]).
5. Patient must be judged resectable after 3 courses of Neoadjuvant chemotherapy
6. Adequate bone marrow, liver and renal function to receive chemotherapy and subsequently to undergo surgery:

   * White blood cells (WBC) \>3x109/L, absolute neutrophil count (ANC) ≥1,5x109/L, platelets (PLT)

     ≥100x109/L, hemoglobin (Hb) ≥9 g/dL,
   * Serum creatinine \<1.25 x upper normal limit (UNL) or creatinine clearance ≥ 30 mL/min according to Cockroft-Gault formula or to local lab measurement, serum bilirubin \<1.25 x UNL, AST(SGOT) and ALT(SGPT) \<2.5 x UNL.
7. Signed informed consent obtained prior to any study-specific procedures.
8. Patient affiliated to, or a beneficiary of, a social security category

Exclusion Criteria:

1. Mucinous, clear cell , carcinosarcoma and low grade serous carcinomahistologies.
2. Synchronous or previous other malignancies within 3 years prior to starting study treatment, with the exception of adequately treated non-melanomatous skin cancer or carcinoma in situ (of the cervix or breast or other sites).
3. Patients with brain metastases, seizure not controlled with standard medical therapy, or history of cerebrovascular accident (CVA, stroke) or transient ischemic attack (TIA) or subarachnoid hemorrhage before 6 months from the enrollment on this study.
4. Any other concurrent medical conditions contraindicating surgery or chemotherapy that could compromise the adherence to the protocol (including but not limited to impaired cardiac function or clinically significant cardiac diseases, active or uncontrolled infections, HIV-positive patients on antiretroviral therapy, uncontrolled diabetes, cirrhosis, chronic active or persistent hepatitis, impaired respiratory function requiring oxygen-dependence, serious psychiatric disorders).
5. Pregnant or breastfeeding women.
An Exploration of the Impact of Gene Therapy on the Lives of People With Haemophilia and Their Families

This study programme aims to examine the real-world experience and impact of gene therapy in a diverse community of people and families affected by haemophilia who have been or will be exposed to gene therapy.

This is a prospective observational multiple cohort qualitative research study to be conducted among diverse groups within the haemophilia community whose lives may have been impacted by gene therapy.

The study is designed to allow English-speaking patients and their families to tell their own life stories through narrative accounts. The narratives represent a true sharing of experiences and offer insight into how these patients and families cope with haemophilia.

Eligibility Criteria:
Inclusion Criteria:

* People with haemophilia A or B who consented to and have undergone gene therapy in the early dose-finding studies and a member of their family
* People with haemophilia A or B who consented to a gene therapy trial following the results of the early studies and a member of their family
* People with haemophilia A or B who consented to a gene therapy trial but who withdrew, were withdrawn from, or were ineligible for the study, and a member of their family
* People with haemophilia A or B who are definitely not interested in or unaware of gene therapy and a member of their family
* People with haemophilia A or B who are interested in but have not been offered gene therapy
* Those who have given written consent to be in the study
* All participants will be ≥16 years.

Exclusion Criteria:

* Participants will be excluded if they do not speak English (for the interviews) or do not consent to be in the study.