Genetic Diagnosis in Inborn Errors of Metabolism
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ClinicalTrials.gov Identifier: NCT06376279 |
Recruitment Status :
Enrolling by invitation
First Posted : April 19, 2024
Last Update Posted : April 19, 2024
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Tracking Information | |||||
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First Submitted Date | January 29, 2024 | ||||
First Posted Date | April 19, 2024 | ||||
Last Update Posted Date | April 19, 2024 | ||||
Actual Study Start Date | April 29, 2008 | ||||
Estimated Primary Completion Date | December 31, 2030 (Final data collection date for primary outcome measure) | ||||
Current Primary Outcome Measures |
Genetic variant identification using NGS for diagnosis [ Time Frame: Through study completion, an average of 1 year. ] Variant identification in patients investigated at our clinic, Centre for inherited metabolic diseases, is an ongoing clinical activity. In many cases, if no variant is identified with NGS (Next Genenation Sequencing) using WGS, additional methods are used such as transcriptomics, proteomics and different cellmodels. More than 400 patients are investigated yearly with NGS/WGS in our clinic.
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Original Primary Outcome Measures | Same as current | ||||
Change History | No Changes Posted | ||||
Current Secondary Outcome Measures | Not Provided | ||||
Original Secondary Outcome Measures | Not Provided | ||||
Current Other Pre-specified Outcome Measures | Not Provided | ||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||
Descriptive Information | |||||
Brief Title | Genetic Diagnosis in Inborn Errors of Metabolism | ||||
Official Title | Genetisk Diagnostik Vid medfödda Metabola Sjukdomar | ||||
Brief Summary | Inborn Errors of metabolism comprise a large number of rare conditions with a collective incidence of around 1/2000 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. |
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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 4.9 million of Sweden's 10.6 million inhabitants. Many metabolic disorders, however, lack effective counter-measures. |
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Study Type | Observational | ||||
Study Design | Observational Model: Cohort Time Perspective: Cross-Sectional |
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Target Follow-Up Duration | Not Provided | ||||
Biospecimen | Retention: Samples With DNA Description: Blood, Muscle biopsy, skin biopsy, fibroblasts, urine
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Sampling Method | Non-Probability Sample | ||||
Study Population | Inborn errors of metabolism, a group of around one thousand different monogenic diseases with a wide spectrum of presentation. | ||||
Condition |
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Intervention | Genetic: IEM-EP
Data from IEM-inborn error of metabolism cohort of individuals
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Study Groups/Cohorts | Not Provided | ||||
Publications * | Not Provided | ||||
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||
Recruitment Status | Enrolling by invitation | ||||
Estimated Enrollment |
1000 | ||||
Original Estimated Enrollment | Same as current | ||||
Estimated Study Completion Date | December 31, 2030 | ||||
Estimated Primary Completion Date | December 31, 2030 (Final data collection date for primary outcome measure) | ||||
Eligibility Criteria | Inclusion Criteria:
Exclusion Criteria:
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Sex/Gender |
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Ages | Child, Adult, Older Adult | ||||
Accepts Healthy Volunteers | Yes | ||||
Contacts | Contact information is only displayed when the study is recruiting subjects | ||||
Listed Location Countries | Not Provided | ||||
Removed Location Countries | |||||
Administrative Information | |||||
NCT Number | NCT06376279 | ||||
Other Study ID Numbers | 2008/351-31 | ||||
Has Data Monitoring Committee | No | ||||
U.S. FDA-regulated Product |
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IPD Sharing Statement |
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Current Responsible Party | Region Stockholm | ||||
Original Responsible Party | Same as current | ||||
Current Study Sponsor | Region Stockholm | ||||
Original Study Sponsor | Same as current | ||||
Collaborators | Karolinska Institutet | ||||
Investigators |
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PRS Account | Region Stockholm | ||||
Verification Date | January 2024 |