Meta AnalysisID 1821

胆酸治疗胆汁酸合成缺陷的临床和生化效应及安全性的证据评估

CRD42021214155

In this systematic review we aim to evaluate the clinical- and biochemical effect and safety of cholic acid treatment in patients with bile acid synthesis defects. Review question: What is the effectiveness and safety pr

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Record Fields

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Meta Analysis Id
1821
Evidence Id
10379
Core Evidence Id
10379
Source Meta Analysis Id
1766
Herb2 Meta Analysis Id
HBMA001766
Crd Id
CRD42021214155
Title
Assessment of the evidence on the clinical- and biochemical effect and safety of Cholic Acid treatment of bile acid synthesis defects
Review Question
In this systematic review we aim to evaluate the clinical- and biochemical effect and safety of cholic acid treatment in patients with bile acid synthesis defects. Review question: What is the effectiveness and safety profile of cholic acid in patients with bile acid synthesis defects?
Study Type Included
It is not expected that many randomized controlled trials (RCT’s) or controlled studies will be available as the diseases are rare. Therefore, there will be no restrictions in study designs. Studies with Original data that are published in peer-reviewed journals will be included.
Condition Being Studied
Cholic acid treatment for patients with bile acid synthesis defects due to 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase defect, delta-4-3-oxosteroid-5-beta-reductase defect, sterol 27-hydroxylase defect, alpha-methylacyl-CoA racemase (AMACR) deficiency, cholesterol 7a-hydroxylase (CYP7A1) defect, OR Zellweger spectrum disorders.
Participant
Patients with a bile acid synthesis defect due to 3β-hydroxy-Δ5-C27-steroid oxidoreductase defect, Δ4-3-oxosteroid-5β-reductase defect, sterol 27-hydroxylase defect, α-methylacyl-CoA racemase deficiency, cholesterol 7a-hydroxylase defect or Zellweger spectrum disorder.
Animal
Human Disease Modelled
Intervention
Cholic Acid treatment
Comparator Control
Alternative treatment (e.g. other bile acid treatment or dietary restrictions), placebo or no treatment/standard care
Main Outcome
The (1) clinical effects of Cholic Acid treatment in patients with under point 19 specified type of BASD will be evaluated by assessing the occurrence, severity and change in: (1a) liver disease (e.g. hepatomegaly, fibrosis, cholestasis), (1b) kidney dysfunction (e.g. creatinine, eGFR), (1c) neurological disease (e.g. cerebellar atrophy/leukodystrophy, cerebellar ataxia, peripheral/sensorimotor neuropathy, seizures, cognitive impairment), (1d) hearing impairment (e.g. sensorineural deafness), (1e) vision impairment (e.g. retinopathy and cataracts), (1f) skeletal disease and/or growth retardation (e.g. height/weight, osteoporosis), and (1g) psychiatric symptoms (e.g. depression, manic episodes). The (2) biochemical effects of Cholic Acid treatment in patients with specified type of BASD will be evaluated by assessing the change in plasma (and/or urinary levels) of (2a) primary bile acids (CDCA and CA), (2b) toxic metabolites (THCA, DHCA, VLCFA, pristanic acid, phytanic acid), (2c) liver parameters (e.g. ALT/AST, GGT, AF, bilirubin, PT, aPTT, factor V/VII), and (2d) fat-soluble vitamins (A, D, E), cholestanol and cholesterol. The safety of Cholic Acid treatment in patients with specified type of BASD will be evaluated by assessing the occurrence of (3) adverse effects and side effects. Measures of effect Occurrence of/or change in: - liver disease (e.g. hepatomegaly, fibrosis, cholestasis) - kidney dysfunction (creatinine/eGFR) - neurological disease (e.g. cerebellar atrophy (yes/no), leukodystrophy (yes/no), cerebellar ataxia (yes/no), peripheral/sensorimotor neuropathy (yes/no), seizures (yes/no, frequency), cognitive impairment (yes/no, total IQ) - hearing impairment (yes/no, severity) - vision impairment (e.g. retinopathy, cataract (yes/no, severity)) - skeletal disease and/or growth retardation (e.g. osteoporosis, weight-for height percentile (yes/no, T/Z/SD-scores)) - psychiatric symptoms (e.g. depression, manic episodes (yes/no, severity)) Any change in plasma levels (and/or urine levels) of: - bile acids - metabolite profile - fat-soluble vitamines, cholestanol, cholesterol - liver parameters. Adverse effects and side effects (yes/no and type)
Outcome Measure
Additional Outcome
To evaluate the dose-response relationship of Cholic Acid treatment in patients with specified type of BASD. Measures of effect PK/PD parameters; e.g. AUC, Cmax, Tmax, elimination half life
Study Method
Intervention, Narrative synthesis, Systematic review
Keyword
Bile Acids and Salts; Cholic Acid; Humans
Contact
Yasmin Polak [email protected]
Organisational Affiliation
Amsterdam UMC, Department of Pharmacy, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands Amsterdam UMC, Department of Endocrinology and Metabolism, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands Amsterdam UMC, Department of Neurology, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands Amsterdam UMC, Laboratory of Genetic Metabolic Diseases, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands Platform Medicijn voor de Maatschappij, Amsterdam UMC, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
Funding Source
This systematic review is performed as part of a larger project platform Medicijn voor de Maatschappij (platform Medicine for Society). This platform is financially supported by a grant from de VriendenLoterij (Friends Lottery), a National Lottery that distributes funds raised by this lottery for good causes primarily concerning health and welfare in the Netherlands.
Other Selection Criteria
Final Publication
Same Topic Review
Published Protocol
Review Type
Language
English
Country
Netherlands
Review Stage
Review Ongoing
First Submission Date
2020-12-17
Registration Date
2021-01-17
Anticipated Start Date
2020-11-01
Anticipated Completion Date
2021-04-01
Title Cn
胆酸治疗胆汁酸合成缺陷的临床和生化效应及安全性的证据评估
Title En
Assessment of the evidence on the clinical- and biochemical effect and safety of Cholic Acid treatment of bile acid synthesis defects
Bilingual Status
complete