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

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ClinicalTrials.gov Identifier: NCT05888155
Recruitment Status : Not yet recruiting
First Posted : June 5, 2023
Last Update Posted : June 5, 2023
Sponsor:
Information provided by (Responsible Party):
Shaimaa Ali Soliman Mohammed, Assiut University

Tracking Information
First Submitted Date May 25, 2023
First Posted Date June 5, 2023
Last Update Posted Date June 5, 2023
Estimated Study Start Date August 2023
Estimated Primary Completion Date August 2024   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: June 2, 2023)
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
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical Presentation of Genetic Disorders in Patients Attending Genetic Outpatient Clinic of Assiut University Children Hospital
Official Title Clinical Presentation of Genetic Disorders in Patients Attending Genetic Outpatient Clinic of Assiut University Children Hospital
Brief Summary 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.
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 Observational
Study Design Observational Model: Other
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population All infants & children from age of one day to age of 18 years
Condition Genetic Disease Clinical Presentation in Patients Attending Genetics Outpatient Clinic of Assiut University Children Hospital
Intervention Not Provided
Study Groups/Cohorts Not Provided
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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Not yet recruiting
Estimated Enrollment
 (submitted: June 2, 2023)
100
Original Estimated Enrollment Same as current
Estimated Study Completion Date September 2024
Estimated Primary Completion Date August 2024   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages 1 Day to 18 Years   (Child, Adult)
Accepts Healthy Volunteers Not Provided
Contacts
Contact: Shaimaa Ali Soliman, Doctor 01095697530 Shaimaa4796@gmail.com
Listed Location Countries Not Provided
Removed Location Countries  
 
Administrative Information
NCT Number NCT05888155
Other Study ID Numbers Genetic disorders presentation
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Yes
Current Responsible Party Shaimaa Ali Soliman Mohammed, Assiut University
Original Responsible Party Same as current
Current Study Sponsor Assiut University
Original Study Sponsor Same as current
Collaborators Not Provided
Investigators
Study Director: Asmaa Ahmed Mahmoud, Doctor Assiut University
Study Director: Zeinab Mohamed Mohi_eldin, Doctor Assiut University
PRS Account Assiut University
Verification Date May 2023