CGDNCT05546775
Immunological Profile and Clinical Characteristics of Children Diagnosed With Chronic Granulomatous Disease
An observational study of CGD, run by Assiut University.
Trial summary
Immunological profile and Clinical characteristics of children diagnosed with chronic granulomatous disease Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- CGD
- What is being tested?
- DHR
- How many people
- 30 participants
- Where
- No sites listed yet
- Study dates
- 20 Sep 2022to 31 Aug 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Children with diagnosed with CGD below 18 yrs
Who may be able to join
- Age at enrollment less than18 years. Both genders. Diagnosed as probable CGD.
Who cannot join
- Children above 18 years old. Children not fullfilling the criteria of CGD
About this study
Immunological profile and Clinical characteristics of children diagnosed with chronic granulomatous disease
Read the detailed 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 .
- Conditions
- CGD
- Being tested
- DHR
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
DHRDiagnostic test
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Sep 2022
- Study start20 Sep 2022 (estimated)
- Primary completion31 Aug 2023 (estimated)
- Study completion31 Aug 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (8)Papers the sponsor has linked to this study.
- Other trials for CGDStudies of the same condition, open and under way.
- More trials run by Assiut UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Jehan Mostafa Abd Alhameed, Assiut University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05546775
- Sponsor's protocol ID
- Immunological profile and CGD
- Status last verified
- Sep 2022
- First submitted
- 30 Aug 2022
- Last updated
- 21 Sep 2022
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Publications
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.
PubMed 31965875Ko 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.
PubMed 24999735Monies 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 S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, Alkuraya FS. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.
PubMed 28600779Boonyawat 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: 10.1155/2018/7041204. eCollection 2018.
PubMed 30034904Wakabayashi 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):365-367. doi: 10.1016/j.jiac.2018.11.015. Epub 2019 Jan 11.
PubMed 30642769Falcone 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.
PubMed 22964947El 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 Experience. J Clin Immunol. 2016 Aug;36(6):610-8. doi: 10.1007/s10875-016-0297-y. Epub 2016 May 24.
PubMed 27222152Roesler J, Hecht M, Freihorst J, Lohmann-Matthes ML, Emmendorffer 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. doi: 10.1007/BF01963557.
PubMed 2044584
Study at a glance
From the registry record, last updated by the sponsor on 21 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Immunological Profile and Clinical Characteristics of Children Diagnosed With Chronic Granulomatous Disease
- ClinicalTrials.gov ID
- NCT05546775
- Acronym / sponsor ID
- Immunological profile and CGD
- Conditions
- CGD
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 20 Sep 2022 (estimated)
- Primary completion
- 31 Aug 2023 (estimated)
- Study completion
- 31 Aug 2024 (estimated)
- First posted
- 21 Sep 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Immunological profile and Clinical characteristics of children diagnosed with chronic granulomatous disease
Detailed 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 .
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Children with diagnosed with CGD below 18 yrs
Key inclusion criteria (1 listed)
- Age at enrollment less than18 years. Both genders. Diagnosed as probable CGD.
Key exclusion criteria (1 listed)
- Children above 18 years old. Children not fullfilling the criteria of CGD
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| DHRTo 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. | Diagnostic test | – |
Primary outcome
Immunological Profile and Clinical Characteristics of Children Diagnosed With Chronic Granulomatous Disease
Time frame: 1 year
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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Sep 2022.
- Results publication: PubMed 31965875El-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.
- Results publication: PubMed 24999735Ko 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.
- Results publication: PubMed 28600779Monies 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 S, Chedrawi A, Al Saud BK, Kurdi W, Makhseed N, Alqasim T, El Khashab HY, Al-Mousa H, Alhashem A, Kanaan I, Algoufi T, Alsaleem K, Basha TA, Al-Murshedi F, Khan S, Al-Kindy A, Alnemer M, Al-Hajjar S, Alyamani S, Aldhekri H, Al-Mehaidib A, Arnaout R, Dabbagh O, Shagrani M, Broering D, Tulbah M, Alqassmi A, Almugbel M, AlQuaiz M, Alsaman A, Al-Thihli K, Sulaiman RA, Al-Dekhail W, Alsaegh A, Bashiri FA, Qari A, Alhomadi S, Alkuraya H, Alsebayel M, Hamad MH, Szonyi L, Abaalkhail F, Al-Mayouf SM, Almojalli H, Alqadi KS, Elsiesy H, Shuaib TM, Seidahmed MZ, Abosoudah I, Akleh H, AlGhonaium A, Alkharfy TM, Al Mutairi F, Eyaid W, Alshanbary A, Sheikh FR, Alsohaibani FI, Alsonbul A, Al Tala S, Balkhy S, Bassiouni R, Alenizi AS, Hussein MH, Hassan S, Khalil M, Tabarki B, Alshahwan S, Oshi A, Sabr Y, Alsaadoun S, Salih MA, Mohamed S, Sultana H, Tamim A, El-Haj M, Alshahrani S, Bubshait DK, Alfadhel M, Faquih T, El-Kalioby M, Subhani S, Shah Z, Moghrabi N, Meyer BF, Alkuraya FS. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.
- Results publication: PubMed 30034904Boonyawat 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: 10.1155/2018/7041204. eCollection 2018.
- Results publication: PubMed 30642769Wakabayashi 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):365-367. doi: 10.1016/j.jiac.2018.11.015. Epub 2019 Jan 11.
- Results publication: PubMed 22964947Falcone 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.
- Results publication: PubMed 27222152El 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 Experience. J Clin Immunol. 2016 Aug;36(6):610-8. doi: 10.1007/s10875-016-0297-y. Epub 2016 May 24.
- Results publication: PubMed 2044584Roesler J, Hecht M, Freihorst J, Lohmann-Matthes ML, Emmendorffer 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. doi: 10.1007/BF01963557.
- Individual participant dataSharing planned: Yes
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of CGD, run by Assiut University.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 21 Sep 2022. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Immunological Profile and Clinical Characteristics of Children Diagnosed With Chronic Granulomatous Disease (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05546775, which also lists 8 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Sep 2022.