Ignite Creation Date:
2024-10-26 @ 3:36 PM
Last Modification Date:
2024-10-26 @ 3:36 PM
Study NCT ID:
NCT06526741
Status:
RECRUITING
Last Update Posted:
None
First Post:
2023-11-11
Brief Title:
ASF Alport Syndrome Registry
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Alport Syndrome Foundation Alport Syndrome Registry
Status:
RECRUITING
Status Verified Date:
2024-08
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:
None
Brief Summary:
Alport Syndrome Foundations ASFs Alport Patient Registry the Registry is open to individuals living with Alport syndrome in the United States US and US territories and outlying islands The Registry welcomes participants of all ages who have a confirmed clinical diagnosis of Alport syndrome A confirmed diagnosis could be obtained via genetic testing biopsy andor from a medical professionals clinical assessment of the individuals symptoms andor family history Participants can have any form and stage of this disease to be eligible for inclusion in the Registry
Patient participation in the Registry is crucial to helping attract and advance research understanding understudied aspects of the disease and informing clinical trials that may lead to Alport syndrome therapies andor a cure
The Registry is accessed through a secure online application Participants report their own health history in the Registry and are encouraged to update any changes at most every three months
The security of each participants information is a top priority Any detail that could identify an individual participant is kept confidential in the Registry and such data are de-identified to protect the participants privacy No electronic health records or social security numbers are requested by or connected to the Registry
A parent or legal guardian may consent to enroll a childdren Alport patients under the age of 18 years An additional assent form is used for individuals ages 7-17 At age 18 participants will be required to re-consent as an adult if they choose to continue to participate in the Registry
Patient participation in the Registry is crucial to helping attract and advance research understanding understudied aspects of the disease and informing clinical trials that may lead to Alport syndrome therapies andor a cure
The Registry is accessed through a secure online application Participants report their own health history in the Registry and are encouraged to update any changes at most every three months
The security of each participants information is a top priority Any detail that could identify an individual participant is kept confidential in the Registry and such data are de-identified to protect the participants privacy No electronic health records or social security numbers are requested by or connected to the Registry
A parent or legal guardian may consent to enroll a childdren Alport patients under the age of 18 years An additional assent form is used for individuals ages 7-17 At age 18 participants will be required to re-consent as an adult if they choose to continue to participate in the Registry
Detailed Description:
ASF is an Alport syndrome patient-led 501c3 non-profit based in the US ASF regularly communicates with thousands of Alport syndrome patients caregivers researchers clinicians and industry stakeholders in the US and internationally ASF created its Alport Patient Registry in partnership with Pulse Infoframe Inc Together ASF and Pulse Infoframe Inc are committed to ensuring patients data entered in the Registry remain secure and under the control of the patients themselves
Alport syndrome is a genetic disease stemming from pathogenic variants in the COL4A3 gene the COL4A4 gene both located on the 2 chromosome and the COL4A5 gene located on the X chromosome These 3 genes encode for the 3 individual collagenous strands 3 4 and 5 respectively that braid to form the triple-helix protein collagen-typeIV345 Collagen-typeIV345 is an extracellular structural protein that supports and gives form and function to multiple organs and organ sub-structures in the human body including the glomeruli of the kidney the inner ear the eyes skin lungs and blood vessels
The primary phenotypical manifestations of Alport syndrome are
1 Progressive glomerulonephritis leading to kidney failure In the glomeruli of the nephrons of the kidneys collagen-typeIV345 is formed in specialized podocyte cells and then excreted into the extracellular matrix space between the podocytes and the endothelial blood vessel cells where it cross-links to form a mature glomerular basement membrane GBM In Alport syndrome the GBMs structural integrity and support of podocyte viability is compromised because of the absence of healthy functional cross-linked collagen-typeIV345 matrix Establishment of the cross-linked collagen-typeIV345 matrix in the GBM starts only after birth and takes years As such all Alport syndrome patients are born healthy and progress to kidney failure at different rates depending on the pathogenicity of their genotype and variant Notably X-linked male and autosomal recessive Alport syndrome patients typically experience kidney failure in their teenage and young adult years Also notably X-linked female and autosomal dominant Alport syndrome patients also suffer from kidney disease - just at a slower rate of progression - and the term carrier is no longer clinically accepted
2 Often but not always progressive bilateral sensorineural hearing loss particularly in the mid-to-higher frequencies
3 Sometimes lenticonus a bulging of the lens capsule and underlying cortex of the lenses of the eyes andor fleck retinopathy yellowish-white lesions of the retinas of the eyes
4 For patients with certain large deletion variants of the COL4A5 gene diffuse esophageal leiomyomatoses benign tumor-like growths that can cause discomfort and can interfere with swallowing
Other phenotypical characteristics that are less understood and hypothesized include but are not limited to diffuse uterine leiomyomatoses increased risk of aortic aneurysm increased risk of preeclampsia and the inability to recover from retinal delamination or corneal abrasions
Because Alport syndrome stems from 3 genes that are located on both autosomal and somatic chromosomes it exists in heterozygous homozygous and hemizygous forms as well as digenic and trigenic forms Added to this complexity pathogenic variants can present as mutations that are described as missense nonsense frameshift intronic exonic collagenous-domain non-collagenous-domain or other mutations Therefore Alport syndrome is best characterized as a spectrum syndrome that encompasses tens of thousands of potential genotypical variants along with an equally diverse set of phenotypical expressions and includes dependencies related to the patients age sex treatment history diet and environment
The ASF Alport Patient Registrys goals are to help understand the above described complexity of Alport syndrome by
A Help assessing which genetic variants influence the rate of kidney function decline
B Quantifying and qualifying understudied aspects of Alport syndrome
C Documenting medications patients are currently taking and how well they are working
D Supporting exploration of new therapies and potential genetic cures
Alport syndrome is a genetic disease stemming from pathogenic variants in the COL4A3 gene the COL4A4 gene both located on the 2 chromosome and the COL4A5 gene located on the X chromosome These 3 genes encode for the 3 individual collagenous strands 3 4 and 5 respectively that braid to form the triple-helix protein collagen-typeIV345 Collagen-typeIV345 is an extracellular structural protein that supports and gives form and function to multiple organs and organ sub-structures in the human body including the glomeruli of the kidney the inner ear the eyes skin lungs and blood vessels
The primary phenotypical manifestations of Alport syndrome are
1 Progressive glomerulonephritis leading to kidney failure In the glomeruli of the nephrons of the kidneys collagen-typeIV345 is formed in specialized podocyte cells and then excreted into the extracellular matrix space between the podocytes and the endothelial blood vessel cells where it cross-links to form a mature glomerular basement membrane GBM In Alport syndrome the GBMs structural integrity and support of podocyte viability is compromised because of the absence of healthy functional cross-linked collagen-typeIV345 matrix Establishment of the cross-linked collagen-typeIV345 matrix in the GBM starts only after birth and takes years As such all Alport syndrome patients are born healthy and progress to kidney failure at different rates depending on the pathogenicity of their genotype and variant Notably X-linked male and autosomal recessive Alport syndrome patients typically experience kidney failure in their teenage and young adult years Also notably X-linked female and autosomal dominant Alport syndrome patients also suffer from kidney disease - just at a slower rate of progression - and the term carrier is no longer clinically accepted
2 Often but not always progressive bilateral sensorineural hearing loss particularly in the mid-to-higher frequencies
3 Sometimes lenticonus a bulging of the lens capsule and underlying cortex of the lenses of the eyes andor fleck retinopathy yellowish-white lesions of the retinas of the eyes
4 For patients with certain large deletion variants of the COL4A5 gene diffuse esophageal leiomyomatoses benign tumor-like growths that can cause discomfort and can interfere with swallowing
Other phenotypical characteristics that are less understood and hypothesized include but are not limited to diffuse uterine leiomyomatoses increased risk of aortic aneurysm increased risk of preeclampsia and the inability to recover from retinal delamination or corneal abrasions
Because Alport syndrome stems from 3 genes that are located on both autosomal and somatic chromosomes it exists in heterozygous homozygous and hemizygous forms as well as digenic and trigenic forms Added to this complexity pathogenic variants can present as mutations that are described as missense nonsense frameshift intronic exonic collagenous-domain non-collagenous-domain or other mutations Therefore Alport syndrome is best characterized as a spectrum syndrome that encompasses tens of thousands of potential genotypical variants along with an equally diverse set of phenotypical expressions and includes dependencies related to the patients age sex treatment history diet and environment
The ASF Alport Patient Registrys goals are to help understand the above described complexity of Alport syndrome by
A Help assessing which genetic variants influence the rate of kidney function decline
B Quantifying and qualifying understudied aspects of Alport syndrome
C Documenting medications patients are currently taking and how well they are working
D Supporting exploration of new therapies and potential genetic cures
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