Dataset Information

Betaine anhydrous in homocystinuria: results from the RoCH registry.

ABSTRACT:

Background

The Registry of Adult and Paediatric Patients Treated with Cystadane® - Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cystadane®) in the treatment of patients with inborn errors of homocysteine metabolism (homocystinuria) in order to minimise the treatment associated risks and establish better knowledge on its clinical use. The registry included patients of all ages with homocystinuria who were treated with betaine anhydrous in conjunction with other therapies. Clinical data were collected retrospectively from 2007 to 2013, then prospectively up to February 2014. All adverse events (AEs) reported during the study were recorded. The clinical and biological status of patients was monitored at least once a year.

Results

A total of 125 patients with homocystinuria (adults [>?18?years]: 50; paediatric [?18?years]: 75) were enrolled at 29 centres in France and Spain. Patients were treated with betaine anhydrous for a mean duration of 7.4?±?4.3?years. The median total daily dose of betaine anhydrous at the first and last study visits was 6?g/day for cystathionine ?-synthase (CBS)-deficient vitamin B6 responders and 9?g/day for methylenetetrahydrofolate reductase-deficient patients, while the median daily dose increased in CBS-deficient B6 non-responders (from 6 to 9?g/day) and cobalamin metabolism-defective patients (from 3 to 6?g/day) between the first and last visits. Treatment caused a mean overall reduction of 29% in plasma homocysteine levels in the study population. A total of 277 AEs were reported during the study, of which two non-serious AEs (bad taste and headache) and one serious AE (interstitial lung disease) were considered to be drug related. Overall, betaine anhydrous was well tolerated with no major safety concerns.

Conclusions

Data from the RoCH registry provided real-world evidence on the clinical safety and efficacy of betaine anhydrous in the management of homocystinuria in paediatric and adult patients.

SUBMITTER: Valayannopoulos V

PROVIDER: S-EPMC6419445 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Publications

Betaine anhydrous in homocystinuria: results from the RoCH registry.

Valayannopoulos Vassili V Schiff Manuel M Guffon Nathalie N Nadjar Yann Y García-Cazorla Angels A Martinez-Pardo Casanova Mercedes M Cano Aline A Couce Maria L ML Dalmau Jaime J Peña-Quintana Luis L Rigalleau Vincent V Touati Guy G Aldamiz-Echevarria Luis L Cathebras Pascal P Eyer Didier D Brunet Dominique D Damaj Léna L Dobbelaere Dries D Gay Claire C Hiéronimus Sylvie S Levrat Virginie V Maillot François F

Orphanet journal of rare diseases 20190314 1

<h4>Background</h4>The Registry of Adult and Paediatric Patients Treated with Cystadane® - Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cystadane®) in the treatment of patients with inborn errors of homocysteine metabolism (homocystinuria) in order to minimise the treatment associated risks and establish better knowledge on its clinical use. The registry included patients of all age ...[more]

PMID: 30871635

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Project description:This study was conducted to investigate the effect of anhydrous betaine and hydrochloride betaine on growth performance, meat quality, relaxometry, postmortem glycolysis, and antioxidant capacity of partridge shank broiler chickens. A total of 400 one-day-old male broilers were randomly divided into 5 treatments and fed basal diets supplemented with 0 (control), 500 (L-AB) or 1,000 (H-AB) mg/kg anhydrous betaine, and 642.23 (L-HB) or 1,284.46 (H-HB) mg/kg hydrochloride betaine, respectively. Compared with the control group, anhydrous betaine supplementation significantly increased (P < 0.05) average daily gain and decreased (P < 0.05) drip loss24h in breast and thigh muscles of broilers. The H-AB group further increased (P < 0.05) breast muscle yield, pH24h, immobile water proportion (P21), the contents of crude protein and glutathione (GSH), the activities of creatine kinase (CK) and glutathione peroxidase (GPX), the mRNA expressions of glucose transporter 4 (GLUT4), protein kinase AMP-activated non-catalytic subunit gamma 3 (PRKAG3), nuclear factor erythroid 2-related factor 2 (Nrf2) and heme oxygenase 1 (HO-1) in breast muscle, and a*45min, GLUT4 mRNA expression in thigh muscle, and decreased (P < 0.05) drip loss48h, free water proportion (P22), the contents of lactate and malondialdehyde (MDA) in breast muscle. Moreover, the H-HB group significantly increased (P < 0.05) pH24h, P21 proportion, the activities of CK, total antioxidant capacity (T-AOC), total superoxide dismutase (T-SOD), and GPX, the content of GSH, the mRNA levels of Nrf2, HO-1, GPX, and γ-glutamate-cysteine ligase catalytic subunit (γ-GCLc) in breast muscle, and the activity and mRNA expression of GPX in thigh muscle, and decreased (P < 0.05) drip loss24h, P22 proportion in breast muscle, and MDA content in breast and thigh muscles. In conclusion, anhydrous betaine showed better effects than hydrochloride betaine in improving growth performance and breast muscle yield of broilers. Moreover, anhydrous betaine (1,000 mg/kg) or equimolar hydrochloride betaine supplementation could improve meat quality by decreasing drip loss, free water proportion, and lactate content, and enhancing muscle antioxidant capacity.

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Dataset Information

Betaine anhydrous in homocystinuria: results from the RoCH registry.

Background

Results

Conclusions

Publications

Betaine anhydrous in homocystinuria: results from the RoCH registry.

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