Topics

Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation

2016-11-07 08:56:31 | BioPortfolio

Summary

The goal of this study is to better characterize the metabolic alterations and sugar structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital Disorders of Glycosylation. The investigators aim to assess the safety and tolerability of oral galactose treatment in a small pilot group of Congenital Disorders of Glycosylation patients. The investigators will also determine the relationship between simple milk sugar intake (galactose dose) in the diet and the blood and urine markers of protein glycosylation abnormalities.

Description

The primary hypothesis in this study is that adding simple milk sugar (galactose) to the diet of Congenital Disorders of Glycosylation patients will normalize the metabolic abnormalities. The secondary hypothesis posits that galactose intervention in Congenital Disorders of Glycosylation patients will normalize specific physiological biomarkers of protein glycosylation that can be utilized for future phase II/III trial development. The knowledge gained from the investigation of these two aims will help the investigators learn more about the disrupted metabolic mechanism of this disease and should lead to the identification of new disease biomarkers that can be used to evaluate clinical efficacy in future therapeutic trials.

Over a two-year period, the investigators will enroll patients diagnosed with Congenital Disorders of Glycosylation. The investigators propose to administer oral galactose supplementation for a period of 18 weeks in increasing dose to assess its effectiveness at normalizing glycosylation. Galactose will be given in a series of doses within the range of normal dietary intake of galactose over fixed time points. To assess the effects of oral galactose supplementation for each participant, changes in participant growth, as well as blood sugar levels, coagulation parameters and liver function (the primary clinical features of Congenital Disorders of Glycosylation) will be correlated with biomarkers derived from participant blood and urine samples obtained at key time points and then compared to standard normative ranges of data for each measure.

Study Design

Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Conditions

Congenital Disorders of Glycosylation

Intervention

D-Galactose

Location

Tulane University
New Orleans
Louisiana
United States
70112

Status

Recruiting

Source

Tulane University

Results (where available)

View Results

Links

Published on BioPortfolio: 2016-11-07T08:56:31-0500

Clinical Trials [712 Associated Clinical Trials listed on BioPortfolio]

Study of Hemostasis in Patients With Congenital Disorder of Glycosylation

The purpose of this study is to investigate the coagulation balance in a cohort of congenital disorder of glycosylation (CDG) patients using conventional tests combined with an integrated ...

"Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects"

The objective of the study is to investigate congenital disorders of glycosylation in congenital heart diseases without a clear molecular or genetic basis.

Galactose Mediated Glycogen Resynthesis

This study will compare short-term post-exercise muscle glycogen synthesis following combined galactose-glucose, glucose alone or galactose alone ingestion.

Effect of Galactose on Permeblity Factor in Patients With FSGS and CKD Stage 5

This study is a proof-of-concept clinical study designed to test the hypothesis that oral administration of galactose can lower the level of a circulating factor that increases glomerular ...

Hepatic Metabolism of Galactose and the Galactose Analog FDGal in Patients With Liver Disease and Healthy Subjects

The elimination of the carbohydrate galactose is used in daily clinical work with liver patients as a quantitative measure of metabolic liver function, as the liver test "The Galactose Eli...

PubMed Articles [7238 Associated PubMed Articles listed on BioPortfolio]

Hyperkinetic movement disorders: Expanding the phenotype of congenital disorders of glycosylation.

Congenital disorders of glycosylation (CDG) constitutes a rare group of inborn error of metabolism with myriad clinical presentation due to multisystem involvement. They are caused by mutations in the...

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies.

Congenital disorders of glycosylation are rare inherited diseases affecting many different proteins. The lack of glycosylation notably affects the hemostatic system and leads to deficiencies of both p...

Congenital disorders of glycosylation and the challenge of rare diseases.

The congenital disorders of glycosylation are a diverse group of disorders, which present both common and unique challenges in the diagnosis of rare disorders. These disorders affect a variety of stru...

Fetal Bovine Serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells.

TMEM165 is involved in a rare genetic human disease named TMEM165-CDG (Congenital Disorders of Glycosylation). It is Golgi localized, highly conserved through evolution and belongs to the uncharacteri...

Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry.

Type II Congenital Disorders of Glycosylation (CDG-II) are a group of diseases with challenging diagnostics characterized by defects in the processing of glycans in the Golgi apparatus. Mass Spectrome...

Medical and Biotech [MESH] Definitions

A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.

An aldohexose that occurs naturally in the D-form in lactose, cerebrosides, gangliosides, and mucoproteins. Deficiency of galactosyl-1-phosphate uridyltransferase (GALACTOSE-1-PHOSPHATE URIDYL-TRANSFERASE DEFICIENCY DISEASE) causes an error in galactose metabolism called GALACTOSEMIA, resulting in elevations of galactose in the blood.

D-Galactose:NAD(P)+ 1-oxidoreductases. Catalyzes the oxidation of D-galactose in the presence of NAD+ or NADP+ to D-galactono-gamma-lactone and NADH or NADPH. Includes EC 1.1.1.48 and EC 1.1.1.120.

Enzymes that catalyze the transfer of galactose from a nucleoside diphosphate galactose to an acceptor molecule which is frequently another carbohydrate. EC 2.4.1.-.

An enzyme that oxidizes galactose in the presence of molecular oxygen to D-galacto-hexodialdose. It is a copper protein. EC 1.1.3.9.

More From BioPortfolio on "Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation"

Quick Search

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...

Congenital Diseases
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...

Urology
Benign Prostatic Hyperplasia (BPH) Erectile Dysfunction Urology Urology is the branch of medicine concerned with the urinary tract and diseases that affect it. Examples include urethritis, urethrostenosis and incontinence. Urology is a su...


Searches Linking to this Trial