Plainville, Connecticut Clinical Trials
A listing of Plainville, Connecticut clinical trials actively recruiting patient volunteers.
Found 84 clinical trials
Peer Support for Adolescents and Emerging Adults With Sickle Cell Pain
The study, known as the Peer suppoRt for adolescents and Emerging adults with Sickle cell pain: promoting ENgagement in Cognitive behavioral thErapy (PRESENCE), aims to determine the effectiveness of digital CBT in reducing pain, opioid use, and healthcare utilization among AYAs with SCD. It also seeks to understand the role …
Genetic and Functional Analysis of Cherubism
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause cherubism. Together with the investigators collaborators the investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The long-term goal of researchers involved …
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C). The investigators will also be determine the capability of the newly developed CMT Pediatric Scale (CMT …
Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
The goal of this research study is to identify genes and regulatory elements on chromosomes that cause ACC. The investigators also study tissue samples from patients to learn about the processes that lead to this disorder.
Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)
CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators also study blood samples and tissue samples from …
Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring Program
The main objective of this observational study is to evaluate the long-term safety and effectiveness of DTX401 for at least 10 years after DTX401 administration.
Accuracy of Lactate Meter in GSDIa
The goal of this observational study is to determine if home lactate meters (both capillary and serum sample) are accurate, compared to lab serum lactate in a population of patients with glycogen storage disease type 1a and to determine if the Accu Chek Guide glucometer (capillary sample) is accurate, in …
Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence …
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
Enroll -HD: A Prospective Registry Study in a Global Huntington's Disease Cohort
Enroll-HD is a longitudinal, observational, multinational study that integrates two former Huntington's disease (HD) registries-REGISTRY in Europe, and COHORT in North America and Australasia-while also expanding to include sites in Latin America. More than 30,000 participants have now enrolled into the study. With annual assessments and no end date, Enroll-HD …
