Treatment for Genetic Disease

Phase-Based Progress Estimates
1
Effectiveness
1
Safety
UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA
Genetic Disease+3 More
Eligibility
< 18
All Sexes
Eligible conditions
Select

Study Summary

This study is evaluating whether whole genome sequencing can be used to speed up the diagnosis of patients in an intensive care unit population.

See full description

Eligible Conditions

  • Genetic Disease
  • Newborn, Infant, Disease

Treatment Effectiveness

Effectiveness Estimate

1 of 3

Study Objectives

This trial is evaluating whether Treatment will improve 7 primary outcomes in patients with Genetic Disease. Measurement will happen over the course of Up to 4 years.

Up to 4 years
Care Cost Evaluation
Clinical Utility of WGS
Confirmed Diagnosis
Diagnostic Rate
Length of Stay
Need for Medical Utilization
Time to Diagnosis

Trial Safety

Safety Estimate

1 of 3

Trial Design

0 Treatment Group

This trial requires 400 total participants across 0 different treatment group

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: up to 4 years
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly up to 4 years for reporting.

Closest Location

UPMC Children's Hospital of Pittsburgh - Pittsburgh, PA

Eligibility Criteria

This trial is for patients born any sex aged 18 and younger. There are 9 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
of UPMC If your child is admitted to the intensive care unit at UPMC Children's Hospital (CHP) and/or Magee Women's Hospital of UPMC, our experienced critical care teams will provide around-the-clock care. show original
If a patient's signs, symptoms, and laboratory values suggest they may have a genetic disorder, their clinical care team may refer them to a medical genetics consultant. show original
Siblings of a neonate who is part of a study that is looking at genetic changes and who has given permission to participate in the study will be recruited if their participation is needed to accurately interpret the neonate's results. show original
Historical controls are individuals who have been evaluated by Medical Genetics within the last 24 months and who meet the criteria for matched controls as defined by propensity score matching. show original
There is a greater than 24 weeks gestational age show original
This means that a baby is born weighing more than 600 grams. show original
The researchers prioritized the study based on the patient's specific clinical concerns. show original
Documented informed consent from parent/guardian
The parents of a neonate who meets the above inclusion criteria and who has been consented to participate in the study. show original

Patient Q&A Section

How many people get infant, newborn, diseases a year in the United States?

"In the United States, 11.4 million children are afflicted with a common group of diseases that, at ages under 5, typically result in death, serious illness, or long-lasting disabling conditions. If the pattern of infant, neonatal, and infant mortality is replicated in the United States, an estimated 2.6 million children of age 5 years are likely to suffer from at least one major disabling condition. Infant mortality, neonatal encephalopathy, and perinatal asphyxia are leading causes of death of children up to age 5 years in the United States." - Anonymous Online Contributor

Unverified Answer

What are the signs of infant, newborn, diseases?

"In an infant, the first signs include the presence of a cold or flu-like disorder, irritability, vomiting, or diarrhea. The white blood cell and platelet count are also signs of infant, newborn, diseases." - Anonymous Online Contributor

Unverified Answer

What causes infant, newborn, diseases?

"Prenatal exposures may increase the risk of developing neonatal diseases. These exposures are linked to both genetic and physiological factors and may be modifiable risk factors." - Anonymous Online Contributor

Unverified Answer

Can infant, newborn, diseases be cured?

"Many disorders, including some that are still in childhood and are not curable, can be prevented in childhood and later in adulthood by improved early detection and appropriate intervention." - Anonymous Online Contributor

Unverified Answer

What are common treatments for infant, newborn, diseases?

"Treatment for infants, newborns and diseases depends on the symptoms of the patient, the amount of treatment needed, and the type of treatment available. Common options include surgery, chemotherapy, and radiation. Common diseases include pneumonia, gastroesophageal reflux, and respiratory tract infections, along with other common illnesses." - Anonymous Online Contributor

Unverified Answer

What is infant, newborn, diseases?

"Infant, newborn, diseases are conditions that arise mostly in children under 18 months of age. The underlying pathophysiology is usually a combination of genetic susceptibility and environmental factors. Infant, newborn, diseases are considered as a separate category because their management is different from diseases of other age groups.\n" - Anonymous Online Contributor

Unverified Answer

Has treatment proven to be more effective than a placebo?

"A systematic review of placebo controlled trials indicates that many treatments are more effective than a placebo. Treatment studies should use placebo controls as the standard of comparison with which to assess the benefits of treatment. To avoid the confounding effects of a non-blinded placebo, blinding should always be used to eliminate any effect that treatment may have on the outcome of the treatment or the placebo group." - Anonymous Online Contributor

Unverified Answer

How serious can infant, newborn, diseases be?

"Infant, newborn, disease are more serious with respect to potential severity than diseases (especially in infancy and early childhood), which may cause concerns and/or worries for caregivers. As an example, the effects of a mild influenza illness are usually limited and resolve within a few days, whereas more serious illnesses like pneumonia can be devastating or even fatal." - Anonymous Online Contributor

Unverified Answer

Have there been other clinical trials involving treatment?

"There is currently some clinical evidence available for the efficacy of dermatological treatments used to treat [acne scar](https://www.withpower.com/clinical-trials/acne-scar)s. However, the studies evaluated only clinical measures, such as acne scores and acne scales, or involved an observational design, and no meta-analysis has been published. For now, practitioners cannot recommend any treatments over others." - Anonymous Online Contributor

Unverified Answer

What is treatment?

"Clinical trial data should be used cautiously and be considered a starting point for decision making, but there is no evidence to support that any one tinnitus treatment is more successful than another." - Anonymous Online Contributor

Unverified Answer

What does treatment usually treat?

"In most cases, treatment aims to improve symptoms or reduce pain. There is increasing evidence that disease-modifying therapies are equally effective as symptomatic therapies for improving quality of life in [rheumatoid arthritis](https://www.withpower.com/clinical-trials/rheumatoid-arthritis) and other forms of inflammatory arthritis. Studies have shown that disease-modifying therapies prevent progression to more severe arthritis. Many of these therapies reduce systemic or localized inflammation, relieve joint pain, improve function, or reduce systemic symptoms. However, most of the medications used to treat arthritis are effective in only part of the patients. Patients with multiple types of arthritis may require a variety of treatments to get the best effect. One possible option is that they may also receive treatments that prevent or slow down the progression of arthritis by reducing inflammation." - Anonymous Online Contributor

Unverified Answer

What is the primary cause of infant, newborn, diseases?

"It can be concluded that infant, newborn, and primary diseases were of different origins. Therefore, it could not be determined that any one of these diseases is the cause of the other." - Anonymous Online Contributor

Unverified Answer
Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.
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