Learn More About Down Syndrome Research Studies

What are Down syndrome research studies and Clinical Trials?

Down syndrome is a genetic disorder that is characterized by the presence of a third chromosome. Down syndrome, also referred to as Trisomy 21, is a disorder caused by the presence of a supernumerary chromosome 21. The extra copy changes a baby's brain and body development, resulting in physical and mental challenges.

According to the National Library of Medicine, Down syndrome is caused by the existence of all or a portion of third chromosome 21. This condition results in certain clinical features, commonly known as Down syndrome.

Down syndrome patients have mild to moderate growth retardation, intellectual disability, and characteristic facial features.

The majority of Down syndrome patients have an extra chromosome 21 copy. The genetic basis of Down syndrome and the association of genotypes with the phenotypes is the main focus of Down syndrome research studies. Trisomy is the most common autosomal aneuploidy that is compatible with fetal survival.

Down syndrome is caused by the failure of chromosome 21 to separate during cell division. The incidence of Down syndrome and its chromosomal basis have been recognized for almost half a century, and there are various hypotheses that were proposed to understand the basic mechanism and non-disjunction of chromosome 21. Many etiological factors are associated with Down syndrome births:

• Gene Dosage Imbalance - The Gene Dosage Imbalance hypothesis asserts that Down syndrome patients contain an increased copy number or dosage of genes on Has 21, which leads to an increase in gene expression. This hypothesis includes the possibility that there is an association of different genes with different phenotypes in DS patients.
• Amplified development instability hypothesis - This hypothesis states that most of the manifestations of Down syndrome can be interrupted by a non-specific disturbance of chromosomal balance, which results in a decrease in the canalization of development.
• The Down syndrome critical region - The Down syndrome critical region is alleged to contain genes that are responsible for features of Down syndrome, including the characteristic craniofacial dysmorphology.
• Advanced maternal age - This etiological factor was first proposed by L S Penrose in 1933, which recognizes advanced maternal age to have an effect on the occurrence of trisomy, especially trisomy 21.

Down syndrome is a lifelong disorder, but care and help early in life can help babies and children improve their intellectual abilities and physical characteristics. The care and services focus on helping DS patients develop their physical and intellectual abilities to their full potential.

Many organizations and agencies are conducting Down syndrome research studies and clinical trials, which address a wide range of issues like dementia, metabolic disorders, Alzheimer's disease, and mental health issues. The advances in research studies and medical care have extended the life span and improved the health of people suffering from Down syndrome. The new research is based on the cognition and development of DS patients and focuses on maximizing their functional outcomes and improving their health and quality of life.

Why are down syndrome research studies Being Studied Through Clinical Trials?

Researchers have been trying to make breakthroughs and pave new ways for the treatment studies of Down syndrome. The observational studies involve cognitive measures, fluid biomarkers, and identified imaging that can serve as potential outcome measures. Clinicians are being helped by volunteers with Down syndrome who are willing to take part in research studies and clinical trials.

So far, researchers have discovered many prenatal diagnosis biomarkers for Down syndrome, like Nucleosome assembly protein 1-like 1, ERO1-like protein alpha, Complement factor B, and 2-oxoglutarate dehydrogenase.

Down syndrome research studies are being conducted to understand other health conditions as well, like Alzheimer's disease. DS is associated with a higher risk of developing early-onset Alzheimer's. Virtually all Down syndrome adults will develop Alzheimer's disease by age 40. Breakdown of the biomarkers in Down syndrome can help in the characterization of the preclinical phase of Alzheimer's for the crucial early diagnosis and treatment in susceptible people.

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What Are The Types of Treatments Available For down syndrome?

Symptomatic treatment is the best approach in managing these patients, as complete recovery is impossible. Down syndrome cannot be cured, but the treatment and management of these patients are multidisciplinary. Early diagnosis and referral to a clinical geneticist are recommended. Karyotype tests diagnose newborns who are suspected of having this disorder. After that, the family is instructed to go forward with genetic testing and counseling of the parents.

The most important aspect of Down syndrome management is parent education. The parents of a DS baby must be aware of the different possibilities that come with Down syndrome.

Down syndrome patients are more prone to cataracts; therefore, they should have their vision and hearing assessed so that timely surgery is possible. Regular diet, physical therapy, and exercise is needed for proper weight gain and optimum growth. Even if there are no clinical signs of congenital diseases, a cardiac referral is sent for all Down syndrome patients who must be corrected, if present at all, within the first six months of the baby's life. This approach ensures optimum development and growth of the Down syndrome patient.

Every organ system is involved in the disorder, which means that other specialties must be referred as well, including a gastroenterologist, pediatric pulmonologist, neurosurgeon, neurologist, physical and occupational therapist, child psychiatrist, etc.

The clinicians and researchers face many barriers, as they cannot obtain reliable results and valid data due to the number of individuals and families that partake in clinical trials and research studies. The advanced research will need collaborative efforts from researchers, clinicians, advocacy groups, people with Down syndrome and their families, and industry.

What Are Some Recent Breakthrough Clinical Trials For Down syndrome research studies?

Since its founding, The National Institute of Child Health and Human Development (NICHD) has conducted many research studies to make progress in understanding and observing Down syndrome. Clinical trials and research studies involve the development of animal models, specific genes examination, and the gene groups that are believed to have a part in the syndrome. Understanding the effect of maternal age on the disorder, development of new diagnosis methods both postnatally and prenatally, and additional research activities are also conducted.

2011: X-chromosome silencing is associated with chromatic modification. Recently, researchers have been applying this transcriptional silencing to additional gene expression problems in patients with Down syndrome. This study is important as it involves chromosome 21, which results in stable modification of heterochromatin, giving promising outlooks for insight into the disease.

2013: Researchers at Johns Hopkins, along with the National Institute of Health, have identified that a compound can dramatically increase learning and memory when it is given to mice with a condition similar to Down syndrome. The single-dose treatment of this medication improved brain development, allowing the cerebellum to grow to a normal size. This compound is known as a 'sonic hedgehog pathway agonist,' and scientists have cautioned against the use of this compound as it is still not proven safe to try in all patients. However, this experiment holds significant promise in the future for Down syndrome patients, as it can lead to the development of similar drugs that can help with cognitive deficits.

2013: This study observed the impact of computerized memory training on short-term memory and behavioral skills in children with Down syndrome. The assistants were trained to ensure the delivery of a computerized intervention, which enhanced Visuospatial Short-Term Memory Skills. This research study is significant as it leads the way toward the concept that computerized visuospatial memory training in schools can bring improvement in the lives of children with Down syndrome.

Who Are Some Of The Key Opinion Leaders / Researchers / Institutions Conducting down syndrome Clinical Trial Research?

Down Syndrome Research Foundation (DSRF)

The mission of the Down Syndrome Research Foundation (DSRF) is to support those living with Down syndrome with individualized educational programs, information resources, and programs that will provide rich social connections and leading-edge education so that every person can flourish and live a better life.

Global Down Syndrome Foundation

Global Down Syndrome Foundation is a nonprofit foundation that is dedicated to improving the lives of people who are living with Down syndrome. By supporting medical care, research studies, advocacy, and education, the foundation focuses on medical care and research studies committed to leading toward better therapeutic development in the future.

National Association for Down Syndrome

National Association for Down Syndrome is the oldest organization that serves individuals who have Down syndrome. The organization was founded in Chicago in 1961, and since then, its pioneering efforts have paved the way for the next generation of parents and DS individuals to be accepted into their communities and develop their potential to the maximum for a better life ahead.

National Down Syndrome Society (NDSS)

National Down Syndrome Society (NDSS) is a leading organization for the human rights of individuals with Down syndrome. NDSS is working towards creating a place where people with Down syndrome will have equal opportunities to improve their quality and standard of life, achieve their goals, and become accepted and valued members of their communities.