This trial is evaluating whether Babble Boot Camp will improve 2 primary outcomes and 3 secondary outcomes in patients with Galactosemias. Measurement will happen over the course of Through study completion, an average of 4 years 2 months.
This trial requires 309 total participants across 2 different treatment groups
This trial involves 2 different treatments. Babble Boot Camp is the primary treatment being studied. Participants will be divided into 2 treatment groups. There is no placebo group. The treatments being tested are not being studied for commercial purposes.
Galactosemia is a condition caused by an insufficiency or complete absence of the enzyme galactose-1-phosphate uridylyltransferase. It affects boys first, and tends to affect males in early life. Galactosemia is common in certain ethnic groups.
Symptoms associated with galactosemias can be observed throughout life, and may manifest as a persistent cough or a sudden worsening of symptoms such as weakness, lethargy or vomiting in infancy. The characteristic signs of galactosemic patients are the enlargement of the liver and spleen and the appearance of jaundice.
In children, the estimated prevalence of Gal-FSM/GALT deficiency and non-Gal-FSM/GALT deficiency is 1.08/110,000 and 6.18/103,000, respectively. Children without these rare disorders do not usually get proper care. Among parents of a child diagnosed with Gal-FSM/GALT deficiency, the estimated prevalence of the disorder is 0.02%. Thus, the prevalence of Gal-FSM/GALT deficiency should be considered in infants less than 12 months of age; in particular, in those younger than 5 month's old. However, it is difficult to detect Gal-FSM/GALT deficiency in adults.
Galactosemia is often treated with oral foods or fluids containing fructose and/or glucose that will be metabolized into galactitol. Other solutions include insulin or parenteral galactose. Galactosemia is commonly treated with intravenous galactose.\n
It appears unlikely that people suffering from GalQ-deficient galactosemia can be cured from the disorder. However, people affected with a deficiency of GalQ seem to be at risk of acquiring a GalQ null allele from their parents or from de novo errors in the conversion of Galβ-1,4Galβ-1,3Gal into the Galβ1,3Galβ1,4Gal form in their cells. This explains the inheritance of Gal-deficient galactosemia along with GalQ-deficient galactosemia in families with at least two occurrences of GalQ-deficient galactosemia in their pedigree.
Galactosemia may be a consequence of genetic disorders or due to dietary habits. The high incidence of galactosemia in Asian populations indicates that it is not caused by dietary factors.
Results from a recent paper of this study lend some support to the validity of babble boot camp as a clinical intervention for pediatric patients with IGHAD.
As the disease progresses most patients require supplemental food and medications. Babble boot camp has no specific dietary restrictions. Although the majority of side effects reported occurred at the beginning or after the completion of the program, most were minor and not serious. The most common side effect is headache. Most side effects were self-limited. Patients should contact their healthcare provider if any serious side effects occur.
Galactosemia probably has not emerged because of genetic considerations due to the extremely low frequency and variable expression of mutated GLUT2 alleles. Although this article is based on family studies of only one patient from North America, these data should serve as a foundation to help identify patients throughout the world who are at risk from genetic testing for Galactosemia.
This is the first article to provide a comprehensive overview of the basic topics taught in babble boot camp. In addition, we also discuss several important aspects of these topics pertinent to current research in the field of genetics, including how specific genes can trigger tumors such as skin cancers and how the environment can modulate the expression of specific genes.
To make the decision from a patient's perspective of whether or not they would be likely to enroll in a clinical trial, a clinician should assess several risk factors from the patient's perspective. If a patient has a positive score (>/= 1) from any parameter, they should be assessed more accurately by a specialist. Otherwise, patients can be reassured that enrollment in a clinical trial is unlikely to yield benefit. A patient's perspective of the risk and potential benefits of a clinical trial should be balanced with the risk of failure to find benefit of clinical trial enrollment.
Babble can bring together a diverse group of individuals who may all have different backgrounds and interests, yet they find an environment where they can develop a passion and learn new skills to enhance their careers. One of the best aspects for anyone who wants to learn more about babies and families is the opportunity for a mentor and other people to help them understand better. Babble is a unique camp where you can be part of the learning community. As the first baby boot camp, Babble has helped more families that want to get a better understanding of babies. Babble encourages them to ask more questions about the process of getting diagnosed and treats their question honestly, so that new parents know that Babble can help them with any question about babies.