Immunological Profile and Clinical Characteristics of Children Diagnosed With Chronic Granulomatous Disease

CGD Clinical Trial

Official title:

Immunological Profile and Clinical Characteristics of Children Diagnosed With Chronic Granulomatous Disease

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05546775
• Other study ID #: Immunological profile and CGD
• Status: Not yet recruiting
• Start date: September 20, 2022
• Est. completion date: August 31, 2024

Study information

• Verified date: September 2022
• Source: Assiut University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Immunological profile and Clinical characteristics of children diagnosed with chronic granulomatous disease

Description:

CGD "chronic granulomatous disease is a rare genetically determined disorder affecting the immune system characterized by recurrent and persistent bacterial and fungal infections due to the inability of the body's phagocytic cells (neutrophil and monocytes) to kill certain phagocytosed microorganisms.). CGD is caused by mutations in one of the five genes coding for NADPH(nicotinamide adenine dinucleotide phosphate ) oxidase subunits. Approximately 70% of cases are caused by mutations in the CYBB gene leading to X-linked CGD, which often causes a severe form of the disease. More than 700 pathogenic mutations in the CYBB gene encoding the gp91-phox protein have been documented. Other biallelic mutations in CYBA, NCF1, NCF2, and NCF4 cause autosomal recessive CGD. In addition, a novel ER-resident transmembrane protein called Eros (essential for reactive oxygen species) that is essential for the regulation of NADPH oxidase and controls the phagocyte respiratory burst was described. A homozygous CYBC1/EROS mutation was associated with the development of CGD Symptoms usually start in infancy or early childhood. Patients with the X-linked form of CGD (60-70% of patients) tend to present earlier and have more severe disease than patients with autosomal recessive forms. Most X-CGD develop failure to thrive,recurrentbacteriallymphadenitis and pneumonia due to catalase-positive organism especially staphylococcus, also skin, liver,and other internal organs abscesses, and osteomyelitis. In addition, CGD patients are more subjected to invasive lifethreatening fungal infections that affect the lungs and bones. Another problem with patients diagnosed with CGD is the excessive inflammatory reactions leading to granulomatous lesions that typically affects the bladder and gastrointestinal tract.

The primary diagnostic tests used in CGD functionally assess the NADPH complex in stimulated neutrophils.The dihydrorhodamine (DHR) assay is the gold standard for diagnosing CGD.

To the investigator's knowledge this will be the first study in Assiut University Children's Hospital to discuss the clinical characteristics and immunological profile of pediatric patients diagnosed as CGD in Assiut University Children's Hospital. In fact there is defect in data about CGD in upper Egypt .

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 30
• Est. completion date: August 31, 2024
• Est. primary completion date: August 31, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 18 Years

Eligibility

Inclusion Criteria:

Age at enrollment less than18 years. Both genders. Diagnosed as probable CGD.

Exclusion Criteria:

Children above 18 years old. Children not fullfilling the criteria of CGD

Related Conditions & MeSH terms

• CGD
• Granulomatous Disease, Chronic

Intervention

Diagnostic Test:
• DHR
To describe the clinical characteristics and pattern of presentation of patients diagnosed as CGD in Assiut, and to find the most common presenting symptoms. To mention the immunological profile of patients diagnosed with CGD (Immunogloulins level - B, T, natural killer cells enumeration with flow cytometry- DHR123) To assess the growth parameters in patients with CGD.

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Assiut University

References & Publications (8)

Boonyawat B, Suksawat Y, Pacharn P, Suwanpakdee P, Traivaree C. X-Linked Chronic Granulomatous Disease: Initial Presentation with Intracranial Hemorrhage from Vitamin K Deficiency in Infant. Case Rep Pediatr. 2018 Jun 24;2018:7041204. doi: 10.1155/2018/70 — View Citation

El Hawary R, Meshaal S, Deswarte C, Galal N, Abdelkawy M, Alkady R, Elaziz DA, Freiberger T, Ravcukova B, Litzman J, Bustamante J, Boutros J, Gaafar T, Elmarsafy A. Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Exp — View Citation

El-Mokhtar MA, Salama EH, Fahmy EM, Mohamed ME. "Clinical Aspects of Chronic Granulomatous Disease in Upper Egypt". Immunol Invest. 2021 Feb;50(2-3):139-151. doi: 10.1080/08820139.2020.1713144. Epub 2020 Jan 22. — View Citation

Falcone EL, Holland SM. Invasive fungal infection in chronic granulomatous disease: insights into pathogenesis and management. Curr Opin Infect Dis. 2012 Dec;25(6):658-69. doi: 10.1097/QCO.0b013e328358b0a4. Review. — View Citation

Ko SH, Rhim JW, Shin KS, Hahn YS, Lee SY, Kim JG. Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease. Immunol Invest. 2014;43(6):585-94. doi: 10.3109/08820139.2013.825270. — View Citation

Monies D, Abouelhoda M, AlSayed M, Alhassnan Z, Alotaibi M, Kayyali H, Al-Owain M, Shah A, Rahbeeni Z, Al-Muhaizea MA, Alzaidan HI, Cupler E, Bohlega S, Faqeih E, Faden M, Alyounes B, Jaroudi D, Goljan E, Elbardisy H, Akilan A, Albar R, Aldhalaan H, Gulab — View Citation

Roesler J, Hecht M, Freihorst J, Lohmann-Matthes ML, Emmendörffer A. Diagnosis of chronic granulomatous disease and of its mode of inheritance by dihydrorhodamine 123 and flow microcytofluorometry. Eur J Pediatr. 1991 Jan;150(3):161-5. — View Citation

Wakabayashi Y, Jubishi D, Okamoto K, Ikeda M, Tatsuno K, Mizoguchi M, Sato T, Okugawa S, Moriya K. A rare case of a prostatic abscess, bacteremia and chronic granulomatous disease associated with Klebsiella pneumoniae. J Infect Chemother. 2019 May;25(5):3 — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Immunological Profile and Clinical Characteristics of Children Diagnosed With Chronic Granulomatous Disease	To describe the clinical characteristics and pattern of presentation of patients diagnosed as CGD in Assiut, and to find the most common presenting symptoms.and mention the immunological profile of patients diagnosed with CGD	1 year