View clinical trials related to Congenital Abnormalities.
Filter by:The management of congenital malformations (3% of pregnancies) by prenatal ultrasound represents a real medical challenge. Their prognosis is variable depending on the underlying aetiology. In France, prenatal diagnosis (PND) has long been based on imaging or infectious, metabolic, immunological or genetic investigations (karyotype, chromosomal microarray (CMA) and sequencing of targeted genes in some cases). About 70% of foetuses remain without an etiological diagnosis after these investigations. Exome (ES) and genome sequencing (GS) has revolutionized medical genetics, with a postnatal diagnostic rate of more than 40% for developmental disorders in the absence of clinical orientation and/or after a negative standard workup. In PND, trio-ES has been progressively introduced in several countries in a diagnostic approach to refine the prognosis and help couples to make decisions regarding the current pregnancy, but also for the subsequent family planning/counselling. However, the delay in the return of results, 3 to 4 weeks on average, is long for couples. Also, ES cannot detect some variants, like structural variants, accessible to GS, that may lead to additional diagnosis in 5 to 10% of cases. Since 2013, the FHU TRANSLAD has been transferring ES in diagnosis for patients with rare diseases with developmental anomalies, by deploying different pilot projects. In PND, our team was the first in France to propose a national research project, AnDDI-Prenatome, supported by the AnDDI-Rares health network, to evaluate the feasibility of analyzing ES and delivering results in less than 4 weeks in the context of congenital malformations (PMID:37035737). The teams were able to demonstrate the feasibility of prenatal ES implementation, with on overall diagnostic yield of 41% (37/89) when ES was used as a first-line test and 31% (19/61) when used after a normal CMA. This experience has enabled the implementation of ES in routine diagnosis, with an offer for the French hospitals. Our team now coordinates the DPNI-Exome trial (interregional PHRC; NCT05182242), comparing non-invasive and invasive approaches for fetal ES in PND when foetal ultrasound signs are discovered. Our team now wishes to evaluate the diagnostic yield and the percentage of results delivery in less than 7 days of rapid trio-GS in case of ultrasound signs, to reduce the delay of results, but also possibly increase the rate of PND. In addition, information concerning the efficiency of rapid trio-GS as well as technical hurdles associated with its implementation will permit the development of national guidelines. This is a question of outmost importance from an international scientific point of view because currently only six publications have proposed the use of the rapid prenatal GS, while around seventy studies report an experience of prenatal ES. Five of these six publications were from China, sometimes retrospective, with no or limited information regarding the methods, inclusion criteria, delays, nor difficulties encountered, and often a low number of included patients. The efficiency cannot be deducted from these publications. The proposed study should answer if rapid trio-GS could be implemented in routine PND in France. The team is committed to assessing the impact of new reproductive technologies on couples. It has already carried out longitudinal qualitative studies, in the DPNI-Exome study, which showed the difficulties couples face when waiting for different results, delivered in different timeframes. GS makes it possible to offer only one unique test, which could answer the parents' questions. The team do their best to ensure that the results are delivered very quickly, but the psychologists mentioned that waiting for the results gives the couple sufficient time to realise the discovery of ultrasound signs, and the possible impact on the pregnancy prognosis. It is therefore important to assess couples' perceptions and satisfaction with a single test, which is quicker than what is offered in the standard care, and to evaluate whether the time needed to obtain the results is sufficient for their decision-making. This could be assessed by semi-directive interviews.
ENROL, the European Rare Blood Disorders Platform has been conceived in the core of ERN-EuroBloodNet as an umbrella for both new and already existing registries on Rare Hematological Diseases (RHDs). ENROL aims at avoiding fragmentation of data by promoting the standards for patient registries' interoperability released by the EU RD platform. ENROL's principle is to maximize public benefit from data on RHDs opened up through the platform with the only restriction needed to guarantee patient rights and confidentiality, in agreement with EU regulations for cross-border sharing of personal data. Accordingly, ENROL will map the EU-level demographics, survival rates, diagnosis methods, genetic information, main clinical manifestations, and treatments in order to obtain epidemiological figures and identify trial cohorts for basic and clinical research. To this aim, ENROL will connect and facilitate the upgrading of existing RHD registries, while promoting the building of new ones when / where lacking. Target-driven actions will be carried out in collaboration with EURORDIS for educating patients and families about the benefits of enrolment in such registries, including different cultural and linguistic strategies. The standardized collection and monitoring of disease-specific healthcare outcomes through the ENROL user-friendly platform will determine how specialized care is delivered, where are the gaps in diagnosis, care, or treatment and where best to allocate financial, technical, or human resources. Moreover, it will allow for promoting research, especially for those issues that remain unanswered or sub-optimally addressed by the scientific community; furthermore, it will allow promoting clinical trials for new drugs. ENROL will enable the generation of evidence for better healthcare for RHD patients in the EU as the ultimate goal. ENROL officially started on 1st June 2020 with a duration of 36 months. ENROL is co-funded by the Health Programme of the European Union under the call for proposals HP-PJ-2019 on Rare disease registries for the European Reference Networks. GA number 947670
The main purpose of this study is to assess the change in clinician global impression after 24 weeks of treatment with QTORIN 3.9% Rapamycin Anhydrous Gel compared to placebo in approximately 50 participants with microcystic lymphatic malformations.
Complications related to the gastrointestinal system may arise in patients receiving enteral nutrition through continuous and bolus infusion. These complications include constipation, diarrhea, nausea, vomiting, abdominal distension, increased gastric residual volume, and abdominal pain. The aim of this study is to determine the impact of abdominal massage applied to patients receiving enteral nutrition through continuous or bolus infusion on gastrointestinal system functions. For this purpose, 164 patients meeting the inclusion criteria will be randomized, and four groups will be defined. Half will constitute the experimental group, and the others will form the control group. In our study, the effects of massage on symptom control will be evaluated by comparing symptoms in patients receiving both forms of nutrition. Thus, the evaluation and control of medical conditions (symptoms) such as constipation, diarrhea, vomiting, increased abdominal distension, and increased gastric residual volume are targeted.
To determine the frequency of different vertebrospinal anomalies in patients with ARM
Complications related to the gastrointestinal system can occur in patients receiving enteral nutrition. These complications may include nausea, vomiting, diarrhea, constipation, decreased bowel sounds, abdominal distension, increased gastric residual volume, and abdominal pain. To prevent and treat food intolerance, as well as to increase gastric emptying, the use of prokinetic agents is often preferred. However, these drugs have various side effects, such as abdominal cramps, allergies, bronchospasm, cardiac issues, and pancreatic disorders. One non-pharmacological method that can be applied to increase bowel motility and reduce abdominal distension and constipation is heat application. The aim of this study is to determine the effect of heat application to the abdominal and lumbar regions, using a hot water bag, on gastrointestinal system functions in patients receiving continuous enteral nutrition.
This study is part of the launch of a multidisciplinary project called IMAG2, for image-guided minimally invasive surgery. It involves collaboration between the radiology and surgery teams at Necker Hospital and the Image Processing and Interpretation (TII) team at the LTCI at Télécom ParisTech. To make a decision, surgeons need access to a 3D model reflecting the anatomy of the specific patient and its pathological variations. Patient-specific 3D reconstruction provides a significant improvement, leading to a precise assessment of the malformation or tumour and its relationship with surrounding organs, nerves and vessels. It allows the surgeon to simulate a pre-operative procedure, which is a definite advantage in terms of safe, effective and curative surgery, particularly in oncology. MRI has been chosen as the basic imaging technique because of its non-irradiating nature and the current lack of 3D MRI reconstruction technology. The study aims to provide an aid to diagnosis and surgical planning by developing dedicated methods and algorithms for segmenting not only the tumour but also the main anatomical components surrounding the tumour from 3D MRI imaging data. The imaging will be performed on a 3 Tesla MRI. The data will be that required for diagnosis and surgical planning, acquired on a routine clinical basis with an expected benefit for patients.
Aging-induced changes in the spine can lead to adult spinal deformity, causing a forward and/or lateral shift of the trunk. While mild cases may have compensatory mechanisms, severe deformities necessitate treatment. Surgery with instrumentation effectively corrects deformities, but complications are common. Precise pre-operative planning based on X-rays is essential. However, radiological imaging has limitations, including ionizing radiation exposure and static nature. Marker-based optoelectronic motion analysis systems offer potential benefits for dynamic spine assessment. This study aims to test the feasibility of using motion analysis systems to characterize spinal alignment and balance in patients with adult spine deformity. The primary objective is to assess the practical implementation, measurement capability, and resources required for motion analysis. Secondary objectives include investigating errors in absolute spinal curvature assessment and developing compensation strategies. The project will recruit 20 patients (non-operated and operated) seeking medical attention for adult spine deformities and 10 healthy controls. Participants will undergo biplanar imaging and motion analysis to capture static and dynamic spine alignment during common activities. The data will help build patient-specific musculoskeletal models, offering potential insights into improving surgical planning for adult spine deformities.
Background: Adult acquired flatfoot deformity (AAFD) is a deformity of the foot which leads to pain and an altered gait pattern. There are several different surgical interventions available for treatment of AAFD. One of the most common treatments for mobile AAFD is medial displacement calcaneal osteotomy (MDCO) with or without adjuvant soft tissue procedures. However, the medial displacement of the calcaneus only aims to correct the deformity in one plane despite AAFD being a deformity of three planes with hypereversion of the calcaneus, anterior translation of the talus over the calcaneus and tilting/drop of the calcaneal head. Because of these multiple forces, the healing of MDCO in the intended position can sometimes be hard to achieve and medial soft tissue is still stressed leading to recurring deformity. The investigators believe that adjuvant insertion of a sinus tarsi implant (STI) could work as an internal splint, protecting soft tissue procedures on the medial side, reversing anterior translation of the talus, opposing calcaneus eversion, and lifting talar head. This additional procedure will create a better correction of the deformity with enhanced appearance of the foot and better long-term functional results. Methods: This is a multi-center randomized controlled trial designed to assess the efficacy of STI as an adjuvant procedure to MDCO in patients with mobile AAFD (Stage IIA). Patients aged 16 to 75 years, referred to one of the orthopedic centers involved in this study, will be invited to participate if they fulfil the trials eligibility criteria. In total, 130 patients who provide informed consent will be randomized to either MDCO with STI or MDCO without STI (65 patients in each group). The included patients will be clinically and radiographically examined. They will also fill out a form before surgery and 4-5 months, 1 year and 2 years postoperatively. The form will include Self-Reported Foot and Ankle Score (SEFAS) and Euro-QoL 5 Dimensions (EQ-5D). The trials primary outcome will be change in Meary's angle. Secondary outcomes include additional radiographic changes, change in SEFAS score, EQ-5D index, pain according to visual analog scale (VAS), satisfaction assessment, clinical outcome measures, the length of postoperative sick-leave and rate of complications. Discussion: This is the first randomized controlled trial assessing the efficacy of a sinus tarsi implant as an adjuvant procedure to MDCO.
Accumulating evidence suggests the prognostic significance of body composition in chronic diseases and neoplastic diseases. CT imaging-based body composition abnormalities are significantly associated with post-LT adverse outcomes including decreased quality of life (QOL), impaired graft regeneration and mortality. However, the perioperative changes in body composition and their potential clinical implications remain unexplored. The objective of this study is to systematically explore and clarify the correlation between body composition and the prognosis of liver transplant patients through dynamic peri-transplant mornitoring.