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NCT00001405
The research goal of this study is to obtain CD34+ hematopoietic stem cells (HSC) from peripheral blood and/or bone marrow, and Mononuclear Cells (lymphocytes and monocytes), and granulocytes (grans) from peripheral blood that will be used in the laboratory and/or in the clinic to develop new cell therapies for patients with inherited or acquired disorders of immunity or blood cells. Development of novel cellular therapies requires access to HSC, Mononuclear Cells and/or granulocytes as the essential starting materials for the pre-clinical laboratory development of gene therapies and other engineered cell products. HSC or blood cells from healthy adult volunteers serve both as necessary experimental controls and also as surrogates for patient cells for clinical scale-up development. HSC or blood cells from patients serve both as the necessary experimental substrate for novel gene therapy and cellular engineering development for specific disorders and as pre-clinical scale up of cellular therapies. Collection of cells from adult patients collected in the NIH Department of Transfusion Medicine (DTM) under conditions conforming to accepted blood banking clinical practice may also be used directly in or cryopreserved for future use in other NIH protocols that have all required regulatory approvals allowing such use. In summary, the research goal of this protocol is the collection of HSC or blood cells that may be used for both laboratory research and/or for clinical treatment in other approved protocols.
NCT07039084
Individuals with rare genetic conditions may experience a delay or loss of developmental skills. Many have limited verbal speech. The aim of this clinical trial is to examine how well a speech-generating device supports the communication skills of participants with a rare genetic condition. The speech-generating device is a communication program loaded onto an iPad. This is a crossover trial, meaning that each participant will receive both the treatment (device) and a control (usual care; no device) phase. The order in which each participant receives the device versus the usual care (no device) will depend on which group the participant is assigned to. The changes in communication in each phase will then be compared. During the trial, participants can expect to complete a series of assessments and attend a total of 2 x 1-hour therapy session per week for 6 weeks.
NCT06089954
The goal of this hybrid type 1 effectiveness-implementation study is to evaluate and compare different ways of delivering genetic research results to participants. The main questions the study aims to answer are: * Is sharing actionable genetic research results with participants through a multimedia patient-informed eHealth intervention (e.g. patient portal) no worse than sharing results by telephone or videoconference with a genetic counselor? * Will research participants access an eHealth educational intervention or chatbot education to learn about research results being offered and the option to decline learning their individual research results and how frequently participants choose to decline actionable research results? * Who benefits less and more from digital intervention with return of actionable research results and what barriers exist to using these tools for return of research results outside this study? Participants in the biobank will be offered digital tools to learn about research results being offered and the option to decline receiving these results. Those who don't decline and have an actionable result will be randomly assigned to receive their results with a genetic counselor or through an eHealth portal. Participants will complete surveys before and after receipt of results to understand patient experiences with these methods of education and return of results to determine if digital tools can be used to help ensure more patients get access to research results which could impact their health.
NCT00001373
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases. The following individuals may be eligible for this natural history study: 1) patients with known or suspected familial Mediterranean fever, TRAPS, hyper-IgD syndrome or related disorders; 2) relatives of these patients; 3) healthy, normal volunteers 7 years of age or older. Patients will undergo a medical and family history, physical examination, blood and urine tests. Additional tests and procedures may include the following: 1. X-rays 2. Consultations with specialists 3. DNA sample collection (blood or saliva sample) for genetic studies. These might include studies of specific genes, or more complete sequencing of the genome. 4. Additional blood samples a maximum of 1 pint (450 ml) during a 6-week period for studies of white cell adhesion (stickiness) 5. Leukapheresis for collecting larger amounts of white cells for study. For this procedure, whole blood is collected through a needle in an arm vein. The blood flows through a machine that separates it into its components. The white cells are removed and the rest of the blood is returned to the body through another needle in the other arm. Patients may be followed approximately every 6 months to monitor symptoms, adjust medicine dosages, and undergo routine blood and urine tests. They will receive genetic counseling by the study team on the risk of having affected children and be advised of treatment options. Participating relatives will undergo a medical and family history, possibly with a review of medical records, physical examination, blood and urine tests. Additional procedures may include a 24-hour urine collection, X-rays, and consultations with medical specialists. A DNA sample (blood or saliva) will also be collected for genetic studies. Additional blood samples of no more than 550 mL during an 8-week period may be requested for studies of white cell adhesion (stickiness). Relatives who have familial Mediterranean fever, TRAPS, or hyper-IgD syndrome will receive the same follow-up and counseling as described for patients above. Normal volunteers and patients with gout will have a brief health interview and check of vital signs (blood pressure and pulse) and will provide a blood sample (up to 90 ml, or 6 tablespoons). Additional blood samples of no more than 1 pint over a 6-week period may be requested in the future.
NCT06672237
This study will be conducted to evaluate the efficacy and safety of a single dose of nexiguran ziclumeran (NTLA-2001) compared to placebo in participants with ATTRv-PN.
NCT07250737
The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping. The patient's Administering Physician should follow the suggested treatment guidelines and comply with all local health authority regulations.
NCT02156102
Background: \- People with sickle cell disease and other blood disorders sometimes get chronic leg ulcers. These are wounds that develop on the skin and don t go away. Current treatments do not work very well, so researchers want to learn more about why the ulcers happen. They want to find out which bacteria may cause it, and if external factors play a role. Objective: \- To study social and environmental factors of sickle cell disease and the causes of sickle cell disease leg ulcers. Eligibility: \- People age 18 and older who have sickle cell disease or another red cell disorder, with or without an active leg ulcer. Design: * Participants will have a medical history and clinical evaluation. They will also have blood drawn. * Participants will complete questionnaires about their life, health, environment, stress, and other topics. * Participants may provide a small sample of hair. * Participants will be asked to collect a small amount of saliva. * Participants with leg ulcers will have their skin microbiome sampled. The microbiome is all of the microbes (bacteria and and/or fungi) and their genes in and on the body. Researchers will use swabs to collect skin samples. Photographs will be taken of the skin sample area. * Some participants without leg ulcers also will have their skin microbiome sampled. * Some participants who have their skin microbiome sampled will return for a second visit. At this visit, their microbiome will be resampled. It will take place more than 30 days after the first visit.
NCT07469657
Since the discovery of a small fraction of circulating cell-free fetal DNA (ccffDNA) in the blood of the mother, non-invasive prenatal diagnosis (NIPD) techniques using a simple blood sample have been developed to 1) screen for chromosomal abnormalities, 2) diagnose fetal sex, and 3) detect variants not carried by the mother (exclusion NIPD by PCR). Exclusion NIPD by PCR is currently available for certain common variants, but developing it for each variant takes 3-6 weeks per center. The development process for PCR NIPD is lengthy and costly for each variant tested, thereby restricting access to this technique. In practice, this technique is not widely available to couples at risk of transmitting a severe monogenic disease in France, due to the large number of different genes and multiple variants of a given gene. Next-generation sequencing (NGS) is based on the simultaneous, parallel execution of millions of sequencing reactions, enabling the same nucleotide sequence to be sequenced hundreds of times. It provides qualitative information on the nature of the sequenced base, as well as quantitative information on the number of times the base has been sequenced (reads). Although it only allows for the analysis of around 2% of the entire genome, NGS sequencing of the exome corresponds to almost all the exons of the 22,000 or so genes in our genome. However, this generates a large amount of data, leading to additional costs. Since its widespread adoption by diagnostic laboratories, some teams have developed an NGS-based NIPD for the exclusion of a pathogenic variant. It allows the analysis of multiple pathogenic variants without requiring an additional development phase. They have demonstrated that NGS-based NIPD is a robust and reliable technology, but one that incurs additional reagent costs. In France, 1,700 to 1,800 prenatal diagnostic tests (PND) for monogenic diseases are performed each year due to family history. Between 35 and 40% of couples undergoing invasive PND could benefit from NIPD by NGS, as proposed in the PrenatSafe project. The increased availability of NIPD, whether by PCR or NGS, could also affect couples' demand in the long term. In France, the introduction of NIPD by NGS is likely to lead to an increase in requests for NIPD, as many couples with a low risk of recurrence (in the case of de novo mutations) will probably opt for it due to its lack of iatrogenicity. The rapid and widespread rise of NIPD by NGS, made possible by the use of a standardized, generalizable technique such as NGS, will transform our practices throughout the country. The PrenatSafe project therefore aims to evaluate the cost/benefit ratio of NIPD by NGS compared to the current standard procedure: NIPD by PCR when performed in clinical practice or PND by invasive sampling (trophoblast biopsy or amniocentesis), using an automated, standardized NGS technique involving exome sequencing, which covers almost all indications for exclusion NIPD. This project is the first cost-consequence analysis of prospective exome-based NIPD, using a single standardized technique. The aim is to translate this innovative technology into routine practice if it proves beneficial and economically viable. Exome-based NIPD for exclusion can be fully automated, from ccfDNA extraction to sequencing. This reduces the risk of human error and brings turnaround times in line with the requirements of prenatal diagnosis. If successful, exome-based NIPD would become an earlier alternative to invasive PND without increasing the risk of fetal loss. It would be available for a very large number of indications and could easily be transferred to other prenatal diagnosis centers in France.
NCT06369974
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy.
NCT07408583
The investigators aim to evaluate the safety and efficacy of in utero hematopoietic stem cell transplantation (IUHSCT) for the treatment of fetuses diagnosed with Fanconi anemia (FA) during pregnancy.
NCT07040774
Type I interferonopathies are rare autoinflammatory disorders caused by genetic defects and associated with significant morbidity and mortality. These diseases are refractory to conventional immunosuppressive therapies. They typically occur in childhood, although disease onset in adulthood has been observed. The clinical spectrum is wide and mainly involves the central nervous system. Joint involvement is also common, and more rarely, haematological features such as cytopenias or immunodeficiency may be observed. Nearly all patients show consistent over-activation of the type I IFN pathway, as evidenced, the expression of IFN-stimulated genes, the so-called 'interferon signature'. To date, the natural history of interferonopathies remains unclear. In this context, the establishment of a natural history of type I interferonopathy in patients is proposed to elucidate the pathophysiological mechanisms and identify biomarkers for diagnosis, prognosis, and disease activity, with the aim of better characterising the diversity of interferonopathies. The main objective is to characterise the evolution of the pathology in paediatric and adult patients with type I interferonopathies. The overall aim of this research is to propose therapeutic options tailored to patient phenotypes and to better define patient sub-groups in order to optimise the preparation of future clinical trials.
NCT06731790
The goal of this controlled, pathophysiological, exploratory interventional study is to compare the inflammatory phenotype of circulating immune cells, basal and following stimulation, from Acute Necrotizing Encephalopathy Type 1 (ANE1) patients with those from sex- and age-matched donors who do not carry the mutation.To date, no study has investigated the molecular mechanisms regulating the inflammatory response in ANE1 disease directly on patient samples. The primary endpoint in individuals in the "mutated RANBP2" arm is an inflammatory phenotype (hyperinflammatory monocytes, secretion of pro-inflammatory cytokines, anti-glycoprotein autoantibodies), significantly exacerbated basal and/or post-stimulation production of pro-inflammatory cytokines compared with the control arm. The secondary objective is to examine the allelic expression of mutant RANBP2 and characterize genetic variants by whole-exome sequencing, in order to associate them with RANBP2 protein localization and ANE crisis severity The researchers will compare the group of ANE1 patients with age- and sex-matched control groups, divided into two subgroups: unrelated controls and controls with familial ties. The aim is to study the different types of inflammatory responses and correlate them with the localization of the RANBP2 protein and the severity of ANE episodes. Participants will participate in a single visit during which demographic data, clinical history and a blood test will be collected with one (unrelated control) or two blood tubes (ANE1 and related control).
NCT07365254
Maternal and infant health is the foundation of public health, and its status directly reflects the overall health level of the population. With rapid socioeconomic development and increasingly severe environmental issues, health problems among women and children have become more widespread and diverse. In the new era, maternal and child health faces new challenges, with higher demands in areas such as reproductive health promotion, birth defect prevention, maternal and infant safety, and childhood disease prevention. Cohort studies, as an epidemiological research method for exploring disease etiology, involve recruiting participants before or during pregnancy and conducting follow-ups on pregnancy, childbirth, and maternal and child health outcomes after birth to identify various factors influencing diseases and health. Focusing on the early stages of life, this approach is an effective method for studying the associations between environmental, genetic, and behavioral risk factors during early life and embryonic development, fetal health, and infant health. This project plans to conduct long-term follow-ups on couples and their offspring on a family basis, while collecting biological samples at multiple time points. A systematic multi-dimensional assessment, based on clinical information and multi-omics data from the enrolled population, will be used to infer the causes of reproductive and pregnancy-related diseases and developmental abnormalities, identify new biomarkers for pregnancy-related diseases, establish predictive models, and recognize risk factors in the early life of offspring, thereby providing guidance for the prevention and control of reproductive and developmental diseases.
NCT04399694
The goal of this study is to identify and characterize novel non-coding and splicing variants that may contribute to genetic disorders. We will particularly focus on patients with a diagnosed genetic disorder that has inconclusive genetic findings.
NCT06235580
Over the past twenty years, Prof. Yanick Crow and his team have developed internationally recognized expertise in genetic pathologies affecting the immune and neurological systems. The pathologies studied have a particularly severe impact on patients' quality of life, with a high mortality rate and a significant risk of occurrence in affected families. These pathologies are rare, and very often under-diagnosed. To date, there is virtually no effective curative treatment. Prof. Crow's team operates at the frontier between clinical and research work, and from experience, the team knows that patients and families affected by these serious pathologies are often highly motivated to help research into the pathology that affects them. Initially, Prof. Crow's research focused primarily on the study of the genetic disease Aicardi-Goutières Syndrome (AGS). However, there is an undeniable clinical and pathological overlap between AGS and other forms of disease such as autoimmune systemic lupus erythematosus and many other genetic pathologies - e.g. familial lupus engelure, spondyloenchondromatosis and COPA syndrome. This is why research is being extended to all genetic diseases with immune and neurological dysfunctions.
NCT05472714
Develop and evaluate the acceptability, feasibility, and preliminary efficacy of an informational video on paired tumor/normal testing for children and adolescents with a new diagnosis of cancer, tumors or other diagnosis.
NCT06555965
The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for clinical treatment trials. The primary objective of the study is to better define and outline the clinical spectrum of STXBP1 and SYNGAP1 through detailed developmental, seizure, and quality of life assessments as an extension of routine clinical care.
NCT07222371
This current study is aimed for the treatment of an individual participant with a form of TUBB4A-related leukodystrophy with hypomyelination.
NCT05339932
Manual wheelchairs (MWCs) are widely used by children with physical disabilities, yet many of these children are unable to use their wheelchair independently. Instead, they depend on others to push them. This dependency results in limited opportunities to decide what they want to do and where they want to go, leading to learned helplessness, social isolation, decreased participation, and restricted involvement in physical activities. Furthermore, unsafe MWC use increases the risk of injury, as highlighted by the 44,300 children treated each year in emergency departments for MWC-related injuries. While independent MWC mobility can positively influence quality of life, MWC skills training must also be provided to promote safe, independent MWC use. The effectiveness of MWC training programs for adults is well established, yet the current standard-of-care does not include MWC skills training for children and research regarding the efficacy of pediatric MWC skills training programs is limited. Skills on Wheels seeks to address these gaps and provide pilot data for a future large-scale, multi-site research project involving a randomized controlled trial. Aim 1 is to explore the influence of Skills on Wheels on children's MWC skills and confidence in their MWC use. Aim 2 is to investigate the influence of Skills on Wheels on children's psychosocial skills, social participation, and adaptive behavior.
NCT05117827
For children who use a power wheelchair, a powered wheelchair standing device (PWSD) may be considered for daily use. A PWSD allows a child to electronically move between sitting and standing and can be driven in either position. Existing published PWSD research in pediatrics is limited to boys with Duchenne muscular dystrophy (DMD).(1, 2) While these studies provide some insights into PWSD use in boys with DMD, they do not reflect PWSD use in children with other conditions. The purpose of this exploratory study is to determine the feasibility of a research protocol exploring use of a PWSD in children who have neurodevelopmental conditions other than DMD.