Clinical Presentation of Genetic Disorders in Patients Attending Genetic Outpatient Clinic of Assiut University Children Hospital

June 2, 2023 updated by: Shaimaa Ali Soliman Mohammed, Assiut University
Genetic Epidemiology : is quickly expanding research field concerned with considerate the heritable aspect of disease risk, individual propensity to disease and eventually with contributing to a complete molecular understanding of pathogenesis. Genetics : is the scientific study of genes &heredity of how certain qualities or traits are passed from parents to offspring as a result of changes in DNA sequence . A gene is a segment of DNA that contains instructions for building of one or more molecules Genetic disorders: is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. (1)mutations: affect the human genes either inherited from one or both parents or due to certain environmental factors Four of the main types include:(1)Single _gene inheritance diseases :Single gene inheritance diseases are diseases that occur because one defective gene is present. They are known as monogenetic disorders.(EX:Marfan Syndrome ) (2)Multifactorial genetic inheritance disorders : Genetic disorders may also be complex, , meaning they are likely associated with the effects of multiple genes in combination with lifestyles and environmental factors. Multifactorial disorders include heart disease and diabetes. (3)chromosomal abnormalities : result from a problem with cell division and arise because of duplications or absences of entire chromosomes or pieces of chromosomes. Examples of chromosome abnormality disorders include(Down sydrome ) (4)Mitochondrial genetic inheritance disorders : are caused by mutations in the DNA of mitochondria, small particles within cell. Mitochondrial DNA is always inherited from the female parent since egg cells (unlike sperm cells) keep their mitochondrial DNA during the process of fertilization. Environmental Factors: called (mutagens)which can lead to genetic mutations Such as Chemical exposure , Radiation exposure , Smoking , UV rays exposure from the sun prognosis Of genetic disorders: Not all genetic disorders directly result in death, there are no known cures for genetic disorders. Many genetic disorders affect stages of development, such as Down syndrome, while others result in purely physical symptoms such as muscular dystrophy. Other disorders, such as Huntington's disease, show no signs until adulthood. .Treatment of genetic disorders: The treatment of genetic disorders is an ongoing battle, with over 1,800 gene therapy clinical trials having been completed, are ongoing, or have been approved worldwide, Despite this, most treatment options revolve around treating the symptoms of the disorders in an attempt to improve patient quality of life. Diagnosis of genetic disorders: (1)personal medical history :information about an individual health often going back to birth can provide clues to a genetic diagnosis (2)physical examination :certain physical characteristics , such as distinctive facial features can suggest the diagnosis of a genetic disorder , a geneticist will do a through physical Examination that may include measurements such as head circumference and so on . (3) Family health history :because genetic conditions often run in families , information about the health of family members can be a critical tool for diagnosing these disorders . (4)Laboratory Tests :including genetic testing , molecular , chromosomal , and biochemical genetic or genomic testing are used to diagnose genetic disorders. Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions. Patients With History Of TORCH: Bad Obstetric history (BOH) implies previous unfavorable foetal outcome in terms of two or more consecutive spontaneous abortion, history of intrauterine foetal death, intrauterine growth retardation, still births, early neonatal death and/or congenital anomalies. Cause of BOH may be genetic, hormonal, abnormal maternal immune response and maternal infection.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Not yet recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Detailed Description

A descriptive study to determine the clinical presentation of patients attending Assiut University children hospital and availability of investigations can be done for them .

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

All infants & children from age of one day to age of 18 years

Description

Inclusion Criteria:

- The study will include all infants &children(from age of one day to age of 18 years ) attending Assiut University children hospital with symptoms suggesting genetic disorders

Exclusion Criteria:

  • No

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Clinical presentation of genetic disorders in patients attending genetics outpatient clinic of Assiut university children hospital
Time Frame: One year
Detection of clinical presentation of genetic diseases
One year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Assiut University

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Study Director: Asmaa Ahmed Mahmoud, Doctor, Assiut University
  • Study Director: Zeinab Mohamed Mohi_eldin, Doctor, Assiut University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

  • MidlinePlus.gov:Medlineplus(internet) .Bethesda (MD)National library of medicine (US)(updated june24)cited (2020Jul 1.)
  • Cavazzano human beta-- Calvo, M. (2010). Transfusion thalassaemia. Nature 467, 318independence and HMGA2 activation after gene therapy of 322. doi:10.1038/nature09328 Cideciyan, A.V. et al (22 January 2013). Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal de generation despite enduring visual improvement. Proceedings of the National Academy of Sciences of the United States of America, Earline Online Publication. doi: 10.1073/pnas.1218933110 MacLaren, R.E. et al (16 January 2014). Retinal gene therapy in patien ts with choroideremia: initial findings from a phase 1/2 clinical trial. The Lancet, Early Online Publication. doi:10.1016/S01406736(13)62117 Nathwani, A.C. (2011). Adenovirusassociated virus vector-- 0 mediated gene transfer in hemophilia B. The New Engla nd Journal of Medicine, 365(25), 23572365. Nienhuis, A.W. (2013). Development of gene therapy for blood disorders: an update. Blood 122(9), 1556 1564. doi: 10.1182/blood201304453209 Palfi, S. et al (10 January 2014). Longterm safety and tolerability o f ProSavin, a lentiviral vector-- based gene therapy for parkinson's disease; a dose escalation, open Publication. doi: 10.1016/S014006736(13)61939Xlabel, phase 1/2 trial. The Lancet, Early Online Penn Medicine (7 December 2013). Penn medicine team reports findings from research study of first 59 adult and pediatric leukemia patients who received investigational, personalized cellular therapy CTL019. Retrieved from http://www.uphs.upenn.edu/news/News_Releases/2013/12/ctl019/ Persons, Derek A. (2010). Gene t 10.1038/467277a Petrsherapy: Targeting betathalassaemia. Nature 467, 277278. doi: Silva, H. & R. Linden (2014). Advances in gene therapy technologies to treat retinitis pigmentosa.
  • 3)National Human genome Research Institute; Led by Director Eric Green, M.D., Ph.D., the National Human Genome Research Institute (NHGRI) is the driving force for advancing genomics research at the National Institutes of Health (NIH), the largest biomedical research agency in the world. (18/5/2018)
  • Garvan Institute of Medical Research/an Australian biomedical research institute located in Darlinghurst, Sydney, New South Wales/ directed by professor Chris Goodnow , FAA, FRS.
  • National Institute of General Medical Sciences (301_496_7301): Supports basic research that increase understanding of biological processes&lays the foundation for advances in disease diagnosis, treatment&prevention.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
August 1, 2023

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
August 1, 2024

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
September 1, 2024

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
May 25, 2023

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 2, 2023

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
June 5, 2023

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
June 5, 2023

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 2, 2023

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
May 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • Genetic disorders presentation

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

Study Data/Documents

  1. Clinical Study Report
    Information identifier: 01095697530

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Cookie Settings

We use cookies to ensure that we give you the best experience on our website. For more details carefully read our Privacy and Cookies Policy. ...>>>You can change your preferences or withdraw your consent at any time by deleting the cookies from your website or computer as described in the policy. Please accept it and choose your preferences by ticking the corresponding boxes in the "Manage Settings" section below. Please carefully read our Terms of Service before you proceed with using any part of this website.
«Manage Settings