Clinical Trials About "Experimental Agent Offers First Hope Rare Genetic Disorder" RSS

12:56 EDT 3rd April 2020 | BioPortfolio

We list hundreds of Clinical Trials about "Experimental Agent Offers First Hope Rare Genetic Disorder" on BioPortfolio. We draw our references from global clinical trials data listed on and refresh our database daily.

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Showing "Experimental Agent Offers First Hope Rare Genetic Disorder" Clinical Trials 1–25 of 20,000+

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Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power

The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols. The study will be conducted through the application of complementary experimental strategies, ranging from the clinical, genetic and molecular characterization of the pathology to the search for rare variants and the development of cellular disease models.


Gene Discovery Core, The Manton Center

The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions. The primary goal of the research is to better understand the genes and proteins (gene products) involved in rare diseases. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with rare disease in the future. Individuals with any...

Finding Genes for Rare Diseases

This study will help the investigator understand the pathogenesis of different rare genetic conditions and to establish database of rare genetic databases. This would ultimately help to provide more accurate diagnosis through advanced genomic diagnostic testing and databases established from this study. This knowledge would in turn help in the clinical management of other affected family members and other individuals affected with similar conditions. Understanding of pathogenes...

Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders

The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low birth weight infants) to infants with genetic disorders. A novel clinical model for infants with rare genetic disorders has been created as a joint initiative between the Division of Newborn Medicine's NICU Growth and Developmental Support Programs (NICU GraDS) program and the Division of Genetics at Boston Children's Hospit...

Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome

Pleuropulmonary Blastoma (PPB) is a rare lung tumor which develops in childhood. The underlying genetic factors which contribute to the development and progression of PPB is not defined. We are working to identify the genetic factors which may contribute to the development of this rare tumor.

Study of Experimental Models of Pain and Inflammation.

The experimental pain model studied in this proposal show characteristics of an inflamed wound with a pro-inflammatory response. This study will help discover candidate genetic and/or proteomic pain biomarkers that could provide objective and mechanism based tests to diagnose, monitor or quantify pain. We also hope to determine the measurable effects of a known NSAID on biomarkers of pain and inflammation.

Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children

The incidence of rare diseases is extremely low, the disease is numerous, the symptoms are serious, and the detection technology is complicated. Countries have different definitions of rare diseases. The definition of rare diseases in China is defined as: diseases with a prevalence of less than 1 in 500 000 or newborns with an incidence of less than 1/10 000 are rare diseases. Due to the low incidence of rare diseases and the accumulation of multiple organs and systems in most ...

Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases

The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpatient/ inpatient standard care at the UKT or cooperating location, NGS analyzes and other omics analyzes (transcriptomics, proteomics, metabolomics), functional cell biology studies will be performed. In group 2 diagnostics is already performed.

Registration Study for Rare Type of Pulmonary Hypertension

Our knowledge on the rare type of pulmonary hypertension which can not be explained by left heart disease, respiratory disease or congenital heart disease is very limited. Investigators aim to setup a national registration study for the rare type of pulmonary hypertension, to understand the natural history, survival, progression, genetic and environmental contributions to disease.

Parkinson's Families Project

One person in every 500 has Parkinson's and around 127,000 people are living with the condition in the UK. The aim of the study is to identify new genes that predispose or cause Parkinson's Disease or Parkinsonism. There is a pressing need to study the genetic makeup of family members both with and without Parkinson's. As families share a common genetic background, it is easier to find new Parkinson's genes by studying the genetic makeup of people with Parkinson's alongside oth...

Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings

The GENOME + project will enroll patients (n = ca. 100) and their healthy parents with unclear molecular cause of the disease, suspected genetic cause of the disease and previous detailed molecular analysis like Whole Exome Sequencing (WES) did not lead to the identification of the disease causing mechanism. As well healthy parents of those affected for trio analysis (exception of one parent is not available for the study).

Protective Genetic Factors Against Neurological Diseases

NIH Precision Medicine Initiative, started in May 2018, will enroll one million people through an online portal. It hopes to identify genetic variants affecting a variety of human phenotypic outcomes. A giant set of data like this may enable an association of genetic variants with a certain phenotype. However, the association is often compromised due to the collection of phenotypic data that is not well controlled or standardized creating "noisy" data. These phenotypic "noises"...

Cohort of Patients With Rare Iron Overloads Excluding C282Y Homozygosity

The study explores the hepcidin deficiency causes of rare iron overload (excluding C282Y homozygosity), and aim to characterize this iron overload in term of clinical, biological, genetic and functional spacificities.

Clinical and Genetic Study of Autism Spectrum Disorder

The purpose of this study is to prepare instruments for Autism Spectrum Disorder (ASD), to collect clinical, neuropsychological, and genetic data of ASD probands and their family, and to identify the genetic variants close to etiological genes of ASD in a Taiwanese sample

Method of Genetic Analysis in Genodermatoses

The goal of the study is to develop a method of genetic diagnosis in two stages, by mendelioma then by genome and transcriptome on fibroblast culture, in genodermatoses and rare diseases with cutaneous expression in the child.

Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity

The purpose of the study is to determine the effect of setmelanotide (RM-493) on weight, hunger assessments and other factors in patients with rare genetic disorders of obesity, including POMC deficiency, LepR deficiency, Bardet-Biedl syndrome and Alström syndrome.

Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors

Background: Approximately 150 cases of cancer per one million per year are considered rare cancers. While all tumors originate from genetic changes, a small percentage of these tumors are familial. Researchers want to study these changes in biological samples from people with rare tumors in order to learn more about how these tumors develop. The information obtained from this study may lead to improved screening, preventive guidelines, and treatments. Objective: ...

Genetic Study of St. Jude Families With High Frequency of Hodgkin Lymphoma

Hodgkin lymphoma (HL) is a relatively rare disorder with known familiar aggregation (i.e. HL in more than one child, or parent and child). Because affected individuals in familial HL are genetically related, the existence of such families has long been considered as evidence in support of a genetic basis of HL susceptibility. However, it is largely unknown which genetic variations are responsible for recurring HL in families. Because the effects of genetic variants are likely t...

Biological Significance of the Bloom's Syndrome Protein

Since 1960, persons with the very rare disorder Bloom's syndrome (BS) have been followed clinically, documenting clinical matters as obtained from their doctors. This has been a worldwide search for cases, though a few in the New York City area are seen (personally, by us) perhaps once every 2-3 years. BS is a rare genetically-determined disorder described in NYC in 1954. The clinical courses of the 169 persons diagnosed BS by 1991 are followed in a program referred to as th...

Cluster Headache and SPINK-1 Gene

Cluster headache (CH) is a rare, excruciating primary headache disorder. A genetic basis has been suggested by family and twin studies, but the mode of transmission seems to vary and the amount of heritability is unclear. The number of genetic association studies investigating variants implicated in the pathophysiology of CH is limited. The HCRTR2 1246G > A and the ADH4 925A > G polymorphisms have been associated with CH. The former has been confirmed and may affect the hypoth...

A Study Comparing Immunotherapy With Chemotherapy in the Treatment of Elderly Patients With Advanced NSCLC (MILES-5)

This is a randomized phase 2 trial aiming to assess the early efficacy of two experimental treatment sequences. Three arms are planned; (i) standard chemotherapy followed at progression by single agent immunotherapy with durvalumab (CT), (ii) experimental single agent immunotherapy with durvalumab followed at progression by chemotherapy, (iii) experimental combination immunotherapy with durvalumab+tremelimumab followed at progression by chemotherapy. The the two experim...

Longitudinal Study of Neurodegenerative Disorders

The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.

Retrospective Review of the Outcomes of Newborns With Genetic Abnormalities

Our hope is that the information from this retrospective study will provide information to better serve our patients and their parents with risk stratification (levels of risk) and clinical expectations of patients after cardiac surgery who have genetic abnormalities and those who do not have genetic abnormalities.

Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Subjects With A Genetic Cholesterol Disorder.

The Torcetrapib project was terminated on December 2, 2006 due to safety findings. To evaluate the efficacy and safety of the lipid drug torcetrapib/atorvastatin in subjects with a rare genetically known disorder of high cholesterol and triglyceride levels.

Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder

The study "Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder" is a research study that aims to explore the use of whole genome sequencing as a potential first line genetic test for patients for which a genetic diagnosis is suspected. This is an internally funded research study. The investigators will enroll 500 participants who are being seen in one of the various genetics clinics within the Partners HealthC...

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