Ignite Creation Date:
2024-05-06 @ 8:24 PM
Last Modification Date:
2024-10-26 @ 3:27 PM
Study NCT ID:
NCT06376279
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2024-04-19
First Post:
2024-01-29
Brief Title:
Genetic Diagnosis in Inborn Errors of Metabolism
Sponsor:
Region Stockholm
Organization:
Region Stockholm
Study Overview
Official Title:
Genetisk Diagnostik Vid medfödda Metabola Sjukdomar
Status:
ENROLLING_BY_INVITATION
Status Verified Date:
2024-01
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:
Inborn Errors of metabolism comprise a large number of rare conditions with a collective incidence of around 12000 newborns Many disorders are treatable provided that a correct diagnosis can be established in time and for many diseases novel therapies are being developed Without treatment many of the conditions result in early death or severe irreversible handicaps
The Centre for Inherited Metabolic Diseases CMMS at Karolinska university hospital is an integrated expert center where clinical specialists work closely together with experts in laboratory medicine combining clinical genetics clinical chemistry pediatrics neurology and endocrinology The center serves the whole Swedish population with diagnostics and expert advice on IEM and has a broad arsenal of biochemical investigations designed to detect defects in intermediary metabolism
The Centre for Inherited Metabolic Diseases CMMS at Karolinska university hospital is an integrated expert center where clinical specialists work closely together with experts in laboratory medicine combining clinical genetics clinical chemistry pediatrics neurology and endocrinology The center serves the whole Swedish population with diagnostics and expert advice on IEM and has a broad arsenal of biochemical investigations designed to detect defects in intermediary metabolism
Detailed Description:
Approximately one in two thousand infants is born with a metabolic disorder that often leads to brain damage By means of high-tech genetic mapping using whole genome sequencing WGS we have discovered the molecular foundations for several of these diseases
For investigation of mitochondrial diseases mitochondria are isolated from muscle biopsies for analysis of ATP production using a range of substrate combinations determination of activities of respiratory chain complexes and analysis of nuclear and mitochondrial DNA
The center also performs the national neonatal screening program currently comprising 26 treatable diseases Dried blood spot samples DBS are stored in the phenylketonuria PKU biobank currently 2024 january holding around 49 million of Swedens 106 million inhabitants
Many metabolic disorders however lack effective counter-measures
For investigation of mitochondrial diseases mitochondria are isolated from muscle biopsies for analysis of ATP production using a range of substrate combinations determination of activities of respiratory chain complexes and analysis of nuclear and mitochondrial DNA
The center also performs the national neonatal screening program currently comprising 26 treatable diseases Dried blood spot samples DBS are stored in the phenylketonuria PKU biobank currently 2024 january holding around 49 million of Swedens 106 million inhabitants
Many metabolic disorders however lack effective counter-measures
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