Ignite Creation Date:
2024-05-06 @ 7:59 PM
Last Modification Date:
2024-10-26 @ 3:18 PM
Study NCT ID:
NCT06217588
Status:
RECRUITING
Last Update Posted:
2024-04-19
First Post:
2024-01-04
Brief Title:
LCAT Lecithin Cholesterol Acyl Transferase Natural History Study
Sponsor:
University of Pennsylvania
Organization:
University of Pennsylvania
Study Overview
Official Title:
LCAT Deficiency Disorders Natural History and Identification of Biomarkers
Status:
RECRUITING
Status Verified Date:
2024-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
LCAT NHS
Brief Summary:
The purpose of the LCAT Lecithin cholesterol acyl transferase Natural History Study LCAT NHS is to help identify people with a mutation in a gene called LCAT collect and store information about their medical history and disease course and to assess for associations and follow changes in clinical features and biomarkers of disease This information will help health care providers better understand the natural history of disease of LCAT deficiency
Study staff will collect information from previous clinical visits such as lab tests physical exam findings renal and cardiovascular imaging findings from kidney biopsies and eye exams and medication and other treatments As part of this study the investigators are asking participants permission to reach out to their doctors to obtain medical records and stored samples such as serum or plasma or biopsies from past visits
Participants may also be asked to join a web-based patient portal to complete a patient-outcomes survey
As part of this study participants will also be asked to do the following things at different times
Answer questions about
Demographic information year of birth age gender raceethnicity country
LCAT deficiency diagnosis such as year of diagnosis type of diagnosis clinical genetic genotype informationLCAT mutation status
Medical history and family history and any updates
A review of medications
If participants are able to come to a study visit in person the following may happen
Physical examination including vital signs height weight blood pressure and heart rate Urine and blood samples for laboratory testing participants will be required to fast for 10 hours before the blood tests A small blood sample may also be taken 2-4 hours after a meal
The following will be tested the different types of cholesterol and other fats in the blood lipids standard hematology type and number of blood cells blood chemistries such as sodium potassium and calcium thyroid function liver panel function of the liver kidney function and the level of protein in urine
Blood and urine samples may also be stored for future testing
Genetic material will be collected
Blood cells may be stored for future research
Participants will have approximately 45 tablespoons of blood drawn annually
If not done previously participants will complete an eye exam
Participants may be seen by a doctor specialized in renal disease
Study staff will collect information from previous clinical visits such as lab tests physical exam findings renal and cardiovascular imaging findings from kidney biopsies and eye exams and medication and other treatments As part of this study the investigators are asking participants permission to reach out to their doctors to obtain medical records and stored samples such as serum or plasma or biopsies from past visits
Participants may also be asked to join a web-based patient portal to complete a patient-outcomes survey
As part of this study participants will also be asked to do the following things at different times
Answer questions about
Demographic information year of birth age gender raceethnicity country
LCAT deficiency diagnosis such as year of diagnosis type of diagnosis clinical genetic genotype informationLCAT mutation status
Medical history and family history and any updates
A review of medications
If participants are able to come to a study visit in person the following may happen
Physical examination including vital signs height weight blood pressure and heart rate Urine and blood samples for laboratory testing participants will be required to fast for 10 hours before the blood tests A small blood sample may also be taken 2-4 hours after a meal
The following will be tested the different types of cholesterol and other fats in the blood lipids standard hematology type and number of blood cells blood chemistries such as sodium potassium and calcium thyroid function liver panel function of the liver kidney function and the level of protein in urine
Blood and urine samples may also be stored for future testing
Genetic material will be collected
Blood cells may be stored for future research
Participants will have approximately 45 tablespoons of blood drawn annually
If not done previously participants will complete an eye exam
Participants may be seen by a doctor specialized in renal disease
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None