louisbrulenaudet/clinical-trials huggingface dataset:
Clinical trial NCT02556359: Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes
Official title: Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Immune Deficiency and Early BMF in Childhood
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2015-09-22
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Any patient presenting clinical immune deficiency and at least one associated feature hinting at a possible DNA repair defect, such as microcephaly, growth retardation starting in utero, distinctive facial appearance ("bird-like face"), developmental delay, cerebellar degeneration, UV light sensitivity, premature aging, dystrophic nails, dental abnormalities, hair anomalies, pancytopenia and/or bone marrow failure

Brief summary: The molecular mechanisms participating in the various aspects of the DNA Damage Response (DDR) are absolutely essential to maintain the genome dynamics essential to all living organisms. The most commonly studied consequence of faulty DDR is genome instability participating in cancer onset. In the present proposal, we wish to explore another aspect of DDR, not relevant to cancer, which is its absolute requirement at several key steps of the development, maturation, and function of the immune system.

The most "spectacular" consequences of faulty DNA repair processes with respect to the immuno-hematopoietic tissue are the complete block of B and T lymphocytes maturation owing to defective DNA joining phase during V(D)J recombination resulting in patients with Severe Combined Immune Deficiency (SCID).

The objectives of this study are to increase our knowledge on the role of the various DNA repair processes in the development, the maintenance, and the function of the immune system and thus, to better understand why and how dysfunctions of these DNA repair processes result in human severe conditions such as CVID, LOCID or other manifestations of immune disorders such as autoimmunity.

The explorations of DNA repair mechanisms in the patients will allow us to establish the genetic diagnosis in some patients with until now undefined molecular diagnosis. This is of immediate importance for the patients and their families, as it not only contributes to a better understanding of the patients' condition, but also allows providing genetic counseling for the families.


Eligibility criteria: Inclusion Criteria:

* Immune Deficiency and early BMF in childhood
* Common Variable Immunodeficiency (CVID)
* Genetic patients

Exclusion Criteria:

* Refusal to consent.

Primary outcomes:
measure: DNA abnormailities
timeFrame: 1 day
Secondary outcomes:
Other outcomes:
Locations:
city: Paris
country: France
facility: Saint Louis hospital
Study officials:
References:
Clinical trial NCT06865859: Single Cell Landscape of HBV-related Acute-on-chronic Liver Failure Patients
Official title: Single-cell Landscape of Immunological Responses in Patients with Hepatitis B Virus-related Acute-on-chronic Liver Failure
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: HBV Related Acute-on-chronic Liver Failure
Lead sponsor: Qilu Hospital of Shandong University
Sponsor class: OTHER
First posted: 2025-03-10
Enrollment: 21
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: The study population is patients with chronic hepatitis B，HBV related liver cirrhosis，HBV related acute-on-chronic hepatic dysfunction and HBV related acute-on-chronic liver failure

Brief summary: This study aimed to profile the peripheral blood immune cells of patients with HBV related acute-on-chronic liver failure using single-cell RNA sequencing to reveal the immunopathological mechanisms of HBV related acute-on-chronic liver failure.

Detailed description: Acute-on-chronic liver failure (ACLF) is a complex clinical syndrome characterized by acute deterioration of liver function in patients with chronic liver disease, exhibiting liver and extrahepatic organ failure and a high short-term mortality. Immune imbalance plays an important role in the progression of HBV-related ACLF. Further investigation of the immune cell characteristics of HBV-related ACLF is helpful to understand its pathogenesis, and may provide reference for the effective therapeutic agent. Single-cell RNA sequencing (scRNA-seq) is the quantitative analysis of transcription at the single-cell level, which could provide systematic analyses of transcriptomic profiles, infer cell-cell interactions. This study will combine single cell transcriptomics and molecular biological experiment to elucidate the immunopathological cell states associated with HBV-related chronic liver disease vs. ACLF.

Eligibility criteria: Inclusion Criteria:

Acute liver failure is a well-defned medical emergency which is defned as a severe liver injury, leading to coagulation abnormality usually with an INR ≥ 1.5, and any degree of mental alteration (encephalopathy) in a patient without pre-existing liver disease and with an illness of up to 4 weeks duration

Exclusion Criteria:

* Associated with other types of hepatitis virus infection or HIV infection, alcoholic liver disease, autoimmune liver disease, drug-induced liver injury; ② Suffering from primary liver cancer or severe heart, digestive, lung, kidney, neurological and psychiatric diseases; ③ Patients with incomplete data and patients unable to participate in the experiment.

Primary outcomes:
measure: Mortality
timeFrame: 28 days, 90 days
Secondary outcomes:
Other outcomes:
Locations:
city: Jinan
country: China
facility: Qilu Hospital of Shandong University
state: Shandong
Study officials:
References:
Clinical trial NCT00049959: Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin.
Official title: A Randomized, Placebo-Controlled, Masked, Multicenter Phase III Study Of Photodynamic Therapy With Verteporfin For Injection (VFI) For The Treatment Of Multiple Basal Cell Carcinoma
Study type: INTERVENTIONAL
Overall status: TERMINATED
Phase: PHASE3
Conditions: Basal Cell Carcinoma
Nevoid Basal Cell Carcinoma Syndrome
Gorlin Syndrome
Keywords: Verteporfin PDT
multiple basal cell carcinoma
nevoid basal cell carcinoma syndrome
Lead sponsor: QLT Inc.
Sponsor class: INDUSTRY
Collaborators: name: Novartis
First posted: 2002-11-19
Sex: ALL
Minimum age (years): 18
Maximum age (years): 90
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: TREATMENT

Brief summary: The purpose of the two studies is to determine whether an experimental therapy using a photoactive drug, verteporfin, in combination with direct light exposure of basal cell carcinoma of the skin can safely eliminate these skin tumors.

Detailed description: Basal cell carcinoma (BCC) of the skin is the most common type of cancer that can be treated with various therapies including surgical removal. A number of factors can lead to the development of multiple BCC of the skin, including genetic disorders (e.g., nevoid basal cell carcinoma syndrome). Treatment of multiple BCC becomes much more challenging. In these trials, the experimental therapy: verteporfin PDT is compared to placebo PDT. PDT or photodynamic therapy in these studies is the combination of the photoactive drug verteporfin (given intravenously) and red light exposure of skin tumors.

The primary objective is to assess whether verteporfin PDT can completely eliminate multiple BCCs. Eligible subjects will have at least 3 BCCs. Study subjects won't know which treatment they have been been assigned to - this is done randomly (like flipping a coin). After study treatment, the BCCs in each subject will be closely observed and toward the end of the study all will be surgically removed and examined to verify response to study treatment. Safety will be assessed by testing blood samples before and after study treatment, and analyzing adverse events and skin reactions to the study treatment.

Eligibility criteria: Inclusion Criteria:

* Currently has at least 3 eligible BCC skin tumors that have never been treated
* Is willing to have these tumor sites surgically removed

Exclusion Criteria:

* Has xeroderma pigmentosum
* Has BCC tumors that are the result of prior radiotherapy or immunosuppression due to an organ transplant
* Is immunosuppressed
* Has abnormal liver function
* Is receiving systemic chemotherapy or has received chemotherapy within the last two years

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
affiliation: QLT Inc.
name: Herma Neyndorff
role: STUDY_DIRECTOR
References:
Clinical trial NCT04542759: Effect of Topical Besifloxacin on Ocular Surface Bacterial Microbiota Prior to Cataract Surgery
Official title: Effect of Topical Besifloxacin on Ocular Surface Bacterial Microbiota Prior to Cataract Surgery
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE1
Conditions: Microbial Disease
Cataract Senile
Keywords: Besifloxacin
prophylaxis
cataract surgery
Lead sponsor: Instituto de Oftalmología Fundación Conde de Valenciana
Sponsor class: OTHER
First posted: 2020-09-09
Enrollment: 60
Sex: ALL
Minimum age (years): 18
Maximum age (years): 85
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: TREATMENT

Brief summary: Describe the efficacy of the use of topical besifloxacin in reducing the conjunctival microbiota as a prophylactic measure in patients scheduled for cataract surgery.

Detailed description: Randomized double-blind clinical trial. Study carried out in a single center between January and April 2017. 60 eyes were included that were randomly divided in a 1: 1 ratio into two groups. The first group received placebo (hydroxypropylmethylcellulose drops) while the second group received 0.6% besifloxacin drops four times a day for 3 days. All of them had a conjunctival cul-de-sac culture before and after treatment.

Eligibility criteria: Inclusion Criteria:

* Subjects over 18 years of age scheduled for cataract surgery in the established study period.
* Subjects physically and mentally capable of applying the eye drops or having a person available to help in the correct administration of the eye drops 4 times a day.

Exclusion Criteria:

* - Active eye infection (bacterial, viral, fungal or parasitic) such as blepharitis and / or conjunctivitis.
* Known allergy or any contraindication to the use of quinolones or any of the components of the drugs.

Primary outcomes:
measure: Percentage of positive cultures before and after treatment in each arm
timeFrame: Through study completion, an average of 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Mexico, City
country: Mexico
facility: Institute of Ophthalmology, Conde de Valenciana Foundation
state: Mexico City
Study officials:
affiliation: Instutute of Ophthalmology "Conde de Valenciana"
name: Eduardo Chavez-Mondragon, MD
role: STUDY_DIRECTOR
References:
Clinical trial NCT03852459: Controlled Study to Assess the Efficacy and Safety of S-Ibuprofen Topical Gel 5% (AP0302) in the Treatment of DOMS
Official title: A Randomized, Double-Blind,Vehicle-Controlled Study to Determine the Efficacy and Safety of AP0302 in the Treatment of Delayed Onset Muscle Soreness (DOMS)
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE2
Conditions: Pain, Acute
Lead sponsor: Aponia Laboratories, Inc.
Sponsor class: INDUSTRY
First posted: 2019-02-25
Enrollment: 251
Sex: ALL
Minimum age (years): 18
Maximum age (years): 55
Standard ages: ADULT
Accepts healthy volunteers: yes
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: TREATMENT

Brief summary: Phase 2 study designed to evaluated analgesic efficacy and safety of S-Ibuprofen Topical Gel 5%

Detailed description: The purpose of this randomized, double-blind study is to evaluate the efficacy and safety of S-Ibuprofen Topical Gel 5% in reducing pain/soreness associated with delayed onset muscle soreness (DOMS).

Eligibility criteria: Inclusion Criteria:

* history of pain/soreness after exercise
* BMI between 18-30
* negative drug, alcohol, pregnancy screens
* other protocol-defined inclusion criteria may apply

Exclusion Criteria:

* upper extremity workout in last 3 months
* job or hobby requiring heavy lifting
* history of muscle disorders
* allergy or intolerance to NSAID or study drug
* history of recent pain medication use
* other protocol-defined exclusion criteria may apply

Primary outcomes:
measure: Sum of the Time-weighted Differences From Baseline in Pain Intensity With Movement(SPIDMOVE) Over 24 Hours Post Time Zero
timeFrame: 0-24 hours.
Secondary outcomes:
measure: SPIDMOVE Over the Following Intervals: 0-6, 6-12, 0-12, 12-24, 24-36, 24-48, 0-36, 36-48 and 0-48 Hours Post-T0.
timeFrame: From 0-6, 6-12, 0-12, 12-24, 24-36, 0-36, 24-28,36-48, and 0-48 hours post-T0. Time point i included 1, 2, 3, 4, 5, 6 (pre-dose), 7, 8, 9, 10, 11, 12 (pre-dose), 16, 18 (pre-dose), 20, and 24 (pre-dose) hours after the first dose.
measure: Sum of Time Weighted Differences From Baseline in Muscle Stiffness (SSID) With Movement Over the Interval
timeFrame: 0-6, 6-12, 0-12, 12-24, 24-36, 24-48, 0-36, 36-48, and 0-48 post T0
measure: Total Relief With Movement (TOTPAR) 0-6 Hours Post Time Zero
timeFrame: 0-6 hours
measure: Subject Global Assessment of Study Medication Assessed at Approximately 48 Hours Post Time Zero
timeFrame: 48 hours post time zero
measure: Number of Participants With Treatment-emergent Adverse Events (TEAEs)
timeFrame: Up to Day 7
Other outcomes:
Locations:
city: Salt Lake City
country: United States
facility: JBR Clinical Research
state: Utah
Study officials:
affiliation: JBR Research
name: Todd Bertoch, MD
role: PRINCIPAL_INVESTIGATOR
References:
Clinical trial NCT00733759: Contrast Echocardiography in Patients With Pulmonary Arteriovenous Malformations (PAVMs)
Official title: The Evaluation of Intra-cardiac Shunts in Patients With Pulmonary Arteriovenous Malformations
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Pulmonary Arteriovenous Malformations
Lead sponsor: Imperial College London
Sponsor class: OTHER
First posted: 2008-08-13
Enrollment: 0
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with pulmonary arteriovneous malformations

Brief summary: Pulmonary arteriovenous malformations (PAVMs) are thin-walled abnormal vessels which provide direct capillary-free communications between the pulmonary and systemic circulations. Patients with PAVMs have usually have low blood oxygen levels and are at risk of other complications including strokes, brain abscesses, pregnancy-related complications and haemorrhage. We hypothesise that the complications of PAVM patients arise from their PAVMs and not the more recognised intracardiac forms of shunting. We propose to perform echocardiograms to enable assessment of the presence of other causes of capillary-free communications between the pulmonary and systemic circulations.


Eligibility criteria: Inclusion Criteria:

* patients with pulmonary arteriovenous malformations (PAVMs)

Exclusion Criteria:

* unable to provide informed consent

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: London
country: United Kingdom
facility: Imperial College Hammersmith Campus
Study officials:
affiliation: Imperial College London
name: Claire L Shovlin
role: PRINCIPAL_INVESTIGATOR
References:
Clinical trial NCT01942759: The Prognostic Value of FDG PET/CT and Diffusion-weighed Imaging on Breast Cancer
Official title: The Prognostic Value of FDG PET/CT and Diffusion-weighed Imaging on Detection of Primary Tumor and Axillary Metastasis for Breast Cancer: SUVMax Against to ADC
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Breast Neoplasms
Keywords: Breast Neoplasms
Positron-Emission Tomography
Diffusion Magnetic Resonance Imaging
Lead sponsor: Bagcilar Training and Research Hospital
Sponsor class: OTHER_GOV
First posted: 2013-09-16
Enrollment: 43
Sex: FEMALE
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: Female patients with breast cancer

Brief summary: The purpose of this study is to determine findings of positron emission tomography and diffusion weighted magnetic resonance in primary lesion and axillary metastasis of breast cancer and compare of two imaging modality in these patients.

Detailed description: We aimed that to correlate both primary lesion 18F-fluorodeoxyglucose (FDG) maximum standardized uptake value (SUVmax) and diffusion-weighted imaging (DWI) apparent diffusion coefficient (ADC) with clinicopathological prognostic factors and compare the prognostic value of these indexes in breast cancer in this study. The evaluated and compared parameters are SUVmax and ADC according to age, tumour size, lymph node metastasis, receptor status, histologic grade, modified Nottingham prognostic index.

Eligibility criteria: Inclusion Criteria:

* Newly diagnosis of breast cancer for which surgical intervention is planned

Exclusion Criteria:

* patients received neoadjuvant chemotherapy
* before breast surgery

Primary outcomes:
measure: To evaluate the relationships between both SUVmax and ADC and clinicopathological prognostic factors
timeFrame: 3 years
Secondary outcomes:
Other outcomes:
Locations:
city: Istanbul
country: Turkey
facility: Bagcilar Training and Research Hospital
Study officials:
affiliation: Bagcilar Training & Research Hospital
name: AYNUR OZEN, MD
role: STUDY_CHAIR
References:
Clinical trial NCT01108159: Integrated Whole-Genome Analysis of Hematologic Disorders
Official title: Integrated Whole-Genome Analysis of Hematologic Disorders Using High-Throughput Sequencing and Array Technologies
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Hematologic Diseases
Lead sponsor: Stanford University
Sponsor class: OTHER
First posted: 2010-04-21
Enrollment: 35
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: participants with hematologic disorders

Brief summary: We will use new technologies to look at the DNA, RNA, proteins, and metabolites in the disease-containing blood, bone marrow, or tissue and normal cells from the skin. Our goal is to analyze all of the genes in the diseased and normal skin sample. By comparing the results of the diseased sample and normal skin cells and the results of the two types of genetic information (DNA and RNA), we should be able to identify genetic changes that are important for the initiation, progression, or treatment response of that particular disorder.


Eligibility criteria: Inclusion Criteria:

1. 18 years of age or older
2. Patient meets the clinical and/or pathologic criteria for the hematologic disorder being examined.
3. Patient is willing to provide a skin biopsy and five 10 mL tubes of peripheral blood.

Exclusion Criteria:

1. Less than 18 years of age
2. Patient is not willing to provide a skin biopsy and five 10 mL tubes of peripheral blood.

Primary outcomes:
measure: to identify mutations, changes in DNA copy number, structural rearrangements, or altered coding and non-coding RNA expression
timeFrame: sample collection at time of routine visit
Secondary outcomes:
Other outcomes:
Locations:
city: Stanford
country: United States
facility: Stanford University School of Medicine
state: California
Study officials:
affiliation: Stanford University
name: James L Zehnder
role: PRINCIPAL_INVESTIGATOR
References:
citation: Merker JD, Roskin KM, Ng D, Pan C, Fisk DG, King JJ, Hoh R, Stadler M, Okumoto LM, Abidi P, Hewitt R, Jones CD, Gojenola L, Clark MJ, Zhang B, Cherry AM, George TI, Snyder M, Boyd SD, Zehnder JL, Fire AZ, Gotlib J. Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genes. Haematologica. 2013 Nov;98(11):1689-96. doi: 10.3324/haematol.2013.092379. Epub 2013 Jul 19.
Clinical trial NCT00120159: Necrotizing Enterocolitis (NEC) Surgical Database
Official title: GPRN Neonatal Surgical Database: Necrotizing Enterocolitis (NEC) Protocol
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Necrotizing Enterocolitis
Keywords: Necrotizing Enterocolitis
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
Collaborators: name: Glaser Pediatric Research Network
name: Elizabeth Glaser Pediatric AIDS Foundation
name: Yale University
First posted: 2005-07-15
Enrollment: 300
Sex: ALL
Minimum age (years): 1
Maximum age (years): 2
Standard ages: CHILD
Accepts healthy volunteers: no
Time perspective: RETROSPECTIVE

Brief summary: The general objectives of this protocol are to develop a multi-center prospective data collection process to identify risk factors for progression of Necrotizing Enterocolitis (NEC). These data will be used as a basis for identifying management strategies appropriate for further evaluation (randomized controlled trials), to develop evidence-based standards of care, and as a tool to facilitate quality-assessment at individual centers through comparison of outcomes with the entire database.


Eligibility criteria: Inclusion Criteria:

Patients must meet at least one criterion from each of the following three categories:

Historical Factors:

* Feeding intolerance defined as vomiting of 2 or more feedings within 24 hours or any vomitus containing bile, or the presence of gastric residuals of volume greater than 6cc/kg or any aspirate containing bile
* Apneic/bradycardic episodes
* Oxygen desaturation episode not otherwise explained
* Guaiac positive or grossly bloody stools

Physical Examination Findings:

* Abdominal distention recorded by practitioner
* Capillary refill time greater than 2 seconds
* Abdominal wall discoloration
* Abdominal tenderness

Radiographic Findings:

* Pneumatosis intestinalis
* Portal venous gas
* Ileus
* Dilated bowel
* Pneumoperitoneum
* Air/fluid levels
* Thickened bowel walls
* Ascites or peritoneal fluid
* Free intraperitoneal air

Exclusion Criteria:

Patients will be excluded for any of the following:

* Major gastrointestinal anomaly
* Prior abdominal operation
* Family does not consent to participate (A list of patients for whom consent was refused will be maintained in order to avoid contacting these families repeatedly. All families who refuse consent will be queried as to the reason for refusal).

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Children's Hospital, Boston
state: Massachusetts
Study officials:
affiliation: Boston Children's Hospital
name: Tom Jaskic, MPH, PhD
role: PRINCIPAL_INVESTIGATOR
References: