Ignite Creation Date:
2024-10-26 @ 3:42 PM
Last Modification Date:
2024-10-26 @ 3:42 PM
Study NCT ID:
NCT06630195
Status:
NOT_YET_RECRUITING
Last Update Posted:
None
First Post:
2024-09-09
Brief Title:
Nature and Frequency of Genetic Abnormalities and Associated Phenotypes in a Cohort of Adults with Intellectual Disability
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Nature and Frequency of Genetic Abnormalities and Associated Phenotypes in a Cohort of Adults with Intellectual Disability
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
HiNDIA
Brief Summary:
Intellectual disability ID is characterized by having an intelligence quotient IQ below 70 and substantial limitations in adaptive functioning across different domains with the condition manifesting before the age of 18 Historically it was noted that 25 of ID cases were attributed to acquired causes such as perinatal anoxia or infections another 25 were linked to genetic factors and the remaining 50 had an undetermined cause However with advancements in genetic diagnosis the proportion of cases with unknown causes is gradually diminishing giving way to a greater understanding of genetic etiologies The rarity of each of these causes of ID and the lack of specificity of most of the syndromes mean that it is often difficult to make an aetiological diagnosis The objective of this study is to describe the nature and frequency of genetic abnomalties identified in adult patients with intellectual disability
This is a descriptive retrospective and prospective study that aim to include 1000 patients across 10 centres aged over 20 years old on consultation between 2016 to 2025 who have been informed where applicable the guardian who have not oppose to participate and who meet the inclusion and non-inclusion criteria Each centre will include and increment a patient identification number for pseudonymisation of reports A name correspondence table will be maintained by each center to establish a link between the research identifier and the participants identity Each table will be stored on each centres secure server The anonymized reports will be transmitted to the coordinating team through the secure Dispose platform which will transfer all the participants data to a REDCap APHP database Descriptive statistic will be performed to count the number of patients with the same genetic syndrome The age of onset of comorbidities and the proportion of each complication by syndromes will be calculated for all patient including the means and median
This is a descriptive retrospective and prospective study that aim to include 1000 patients across 10 centres aged over 20 years old on consultation between 2016 to 2025 who have been informed where applicable the guardian who have not oppose to participate and who meet the inclusion and non-inclusion criteria Each centre will include and increment a patient identification number for pseudonymisation of reports A name correspondence table will be maintained by each center to establish a link between the research identifier and the participants identity Each table will be stored on each centres secure server The anonymized reports will be transmitted to the coordinating team through the secure Dispose platform which will transfer all the participants data to a REDCap APHP database Descriptive statistic will be performed to count the number of patients with the same genetic syndrome The age of onset of comorbidities and the proportion of each complication by syndromes will be calculated for all patient including the means and median
Detailed Description:
Intellectual disability ID is defined by the combination of an intelligence quotient IQ of less than 70 and significant limitations in adaptive functioning in various areas with onset before the age of 18 Although common 2 of the population ID is an extremely heterogeneous condition in terms of severity associated additional disabilities and aetiologies Until recently it was reported that 25 of IDs had an acquired cause perinatal anoxia infection etc 25 a genetic cause and 50 an undetermined cause advances in genetic diagnosis are gradually reducing the latter proportion in favour of genetic aetiologies The rarity of each of the genetic causes of ID and the lack of specificity of most of the syndromes mean that it is often difficult to make an aetiological diagnosis
This is a descriptive retrospective and prospective study that aim to include 1000 patients across 10 centres aged over 20 years old on consultation between 2016 to 2025 who have been informed where applicable the guardian who have not oppose to participate and who meet the inclusion and non-inclusion criteria The first stage of the study will be the selection of patients medical records by the participating centres Patients aged over 20 with a proven intellectual disability who have been seen for consultations since 2016 will be identified on the basis of their electronic andor paper medical records retrospetive Selection of the file includes a check of the elements present and missing from the file using a clinical data collection grid and genetic results If the data is available the patient will then be selected Once the files have been selected the patient or where appropriate the guardian if the patient is under guardianship will be informed individually of the study and asked for their non opposition For the prospective arm patients over the age of 20 with a proven intellectual disability who are seen for routine care in the participating centres will be included Each centre will increment a patient identification number for pseudonymisation of reports A name correspondence table will be maintained by each center to establish a link between the research identifier and the participants identity Each table will be stored on each centres secure server The anonymized reports will be transmitted to the coordinating team through the secure Dispose platform which will transfer all the participants data to a REDCap APHP database
Descriptive statistic will be performed to count the number of patients with the same genetic syndrome The age of onset of comorbidities and the percentage of each complication per syndrome will be calculated for all patients including the means and median
This is a descriptive retrospective and prospective study that aim to include 1000 patients across 10 centres aged over 20 years old on consultation between 2016 to 2025 who have been informed where applicable the guardian who have not oppose to participate and who meet the inclusion and non-inclusion criteria The first stage of the study will be the selection of patients medical records by the participating centres Patients aged over 20 with a proven intellectual disability who have been seen for consultations since 2016 will be identified on the basis of their electronic andor paper medical records retrospetive Selection of the file includes a check of the elements present and missing from the file using a clinical data collection grid and genetic results If the data is available the patient will then be selected Once the files have been selected the patient or where appropriate the guardian if the patient is under guardianship will be informed individually of the study and asked for their non opposition For the prospective arm patients over the age of 20 with a proven intellectual disability who are seen for routine care in the participating centres will be included Each centre will increment a patient identification number for pseudonymisation of reports A name correspondence table will be maintained by each center to establish a link between the research identifier and the participants identity Each table will be stored on each centres secure server The anonymized reports will be transmitted to the coordinating team through the secure Dispose platform which will transfer all the participants data to a REDCap APHP database
Descriptive statistic will be performed to count the number of patients with the same genetic syndrome The age of onset of comorbidities and the percentage of each complication per syndrome will be calculated for all patients including the means and median
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None