Advertisement

Topics

The Dallas Hereditary Spherocytosis Cohort Study

2014-08-27 03:13:01 | BioPortfolio

Summary

The purpose of this study is to

1. better characterize the short term and long term natural history of hereditary spherocytosis (HS) including diagnosis, complications, and indications for and response to splenectomy

2. evaluate and describe the health-related quality of life in children with HS.

Description

Patients with a new or established diagnosis of HS seen at Children's Medical Center will be asked to enroll in the study. Previous and current medical records will be reviewed to systematically catalogue their history of HS, including diagnosis, complications, hospitalizations, medications and laboratory data. Health-related quality of life questionnaires will be given to the patients and their parents at enrollment and periodically during the follow-up. Those who agree will have up to three small samples of blood collected and frozen for future laboratory studies of complications associated with HS and/or splenectomy.

We anticipate enrolling approximately 200 children and young adults with HS in this study and following them until adulthood (age 18-21 years).

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Conditions

Hereditary Spherocytosis

Location

Children's Medical Center
Dallas
Texas
United States
75235

Status

Recruiting

Source

University of Texas Southwestern Medical Center

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:13:01-0400

Clinical Trials [159 Associated Clinical Trials listed on BioPortfolio]

Hereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study)

The purpose of the registry/repository is to understand the natural history of tyrosinemia in our region and to provide a mechanism to store data and specimens to support the conduct of fu...

Biomarker for Hereditary Angioedema Disease Type 1

Development of a new mass spectrometry based biomarker for the early and sensitive diagnosis of hereditary angioedema disease type 1 from plasma

Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer or Polyposis Syndrome or Who Are at High Risk of Developing Hereditary Colorectal Cancer

RATIONALE: Gathering medical and family history information from patients and family members may help doctors better understand hereditary colorectal cancer and hereditary polyposis syndro...

A Study of LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis

This study is a Phase 2 multicenter, randomized, placebo controlled, double-blind study. The primary objective of the study is to evaluate the effect of LJPC-401 (synthetic human hepcidin)...

Efficacy Study of DX-88 (Ecallantide) to Treat Acute Attacks of Hereditary Angioedema (HAE)

The purpose of this study is to evaluate the efficacy and safety of DX-88 (ecallantide) versus placebo in the treatment of moderate to severe acute attacks of hereditary angioedema.

PubMed Articles [354 Associated PubMed Articles listed on BioPortfolio]

Blueberry muffin rash secondary to hereditary spherocytosis.

The term blueberry muffin rash is used to describe the clinical presentation of dermal extramedullary hematopoiesis. The common culprits of this rash include a TORCH (toxoplasmosis, other agents, rube...

Flow cytometric osmotic fragility test and eosin-5'-maleimide dye-binding tests are better than conventional osmotic fragility tests for the diagnosis of hereditary spherocytosis.

Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia with heterogeneous clinico-laboratory manifestations. We evaluated the flow-cytometric tests: eosin-5'-maleimide (EMA) and f...

Extramedullary Hematopoiesis Mimicking Mediastinal Tumor in a Patient with Hereditary Spherocytosis: Case report.

Extramedullary hematopoiesis (EMH) is a rare disorder, defined as the appearance of hematopoietic elements outside the bone marrow or peripheral blood. The exact mechanism of this development is still...

Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis.

Hereditary spherocytosis (HS) is a genetic heterogeneous disorder characterized by sphere-shaped erythrocytes on peripheral blood smear with a few clinical manifestations. As an important red cell mem...

Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.

New generation osmotic gradient ektacytometry has become a powerful procedure for measuring red blood cell deformability and therefore for the diagnosis of red blood cell membrane disorders. In this s...

Medical and Biotech [MESH] Definitions

A familial congenital hemolytic anemia characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.

Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.

Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).

Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES.

A form of hereditary angioedema that occurs in women and is precipitated or worsened by high ESTROGEN levels. It is associated with mutations in the gene for FACTOR XII that result in its increased activity.

More From BioPortfolio on "The Dallas Hereditary Spherocytosis Cohort Study"

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topics

Nutrition
Within medicine, nutrition (the study of food and the effect of its components on the body) has many different roles. Appropriate nutrition can help prevent certain diseases, or treat others. In critically ill patients, artificial feeding by tubes need t...

Pediatrics
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...


Searches Linking to this Trial