Ignite Creation Date:
2024-05-06 @ 9:49 AM
Last Modification Date:
2024-10-26 @ 12:20 PM
Study NCT ID:
NCT03087253
Status:
RECRUITING
Last Update Posted:
2024-04-18
First Post:
2017-03-16
Brief Title:
The LD Lync Study - Natural History Study of Lipodystrophy Syndromes
Sponsor:
University of Michigan
Organization:
University of Michigan
Study Overview
Official Title:
Prospective Multicenter Natural History Study of Lipodystrophy Syndromes to Determine Prevalence Incidence and Predictors of Diabetes and Severe Hypertriglyceridemia and Their Complications
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:
None
Brief Summary:
Genetic lipodystrophy syndromes are extremely rare orphan diseases with overall estimated prevalence of less than 2000 in the United States These rare disorders characterized by selective loss of adipose tissue and predisposition to insulin resistance and its metabolic complications diabetes dyslipidemia and hepatic steatosis Due to these metabolic problems atherosclerotic vascular disease recurrent episodes of acute pancreatitis cirrhosis and other morbidities complicate the lives of these patients
In the last few years several genes for CGL AGPAT2 BSCL2 CAV1 and PTRF FPL LMNA PPARG AKT2 CIDEC LIPE PLIN1 PCYT1A and ADRA2A MAD LMNA and ZMPSTE24 APS LMNA autoinflammatory PSMB8 NPS FBN1 CAV1 SHORT syndrome PIK3R1 and MDP syndrome POLD1 have been identified However there is paucity of information about the natural history of these rare syndromes especially genotype-specific causes of morbidity and mortality
To overcome the problems outlined above this multicenter collaborative prospective observational natural history cohort study will be conducted on approximately 500 patients with genetic or acquired lipodystrophy syndromes Patients will be assessed on a yearly basis for approximately 5 to 7 years to collect robust clinical metabolic morbidity and mortality data Medical history and patient questionnaires will be completed on a yearly basis by patients registered in the study Clinical data such as vitals laboratory results and anthropometric measurements will also be collected from patients medical records if available
In the last few years several genes for CGL AGPAT2 BSCL2 CAV1 and PTRF FPL LMNA PPARG AKT2 CIDEC LIPE PLIN1 PCYT1A and ADRA2A MAD LMNA and ZMPSTE24 APS LMNA autoinflammatory PSMB8 NPS FBN1 CAV1 SHORT syndrome PIK3R1 and MDP syndrome POLD1 have been identified However there is paucity of information about the natural history of these rare syndromes especially genotype-specific causes of morbidity and mortality
To overcome the problems outlined above this multicenter collaborative prospective observational natural history cohort study will be conducted on approximately 500 patients with genetic or acquired lipodystrophy syndromes Patients will be assessed on a yearly basis for approximately 5 to 7 years to collect robust clinical metabolic morbidity and mortality data Medical history and patient questionnaires will be completed on a yearly basis by patients registered in the study Clinical data such as vitals laboratory results and anthropometric measurements will also be collected from patients medical records if available
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