Betaine anhydrous in homocystinuria: results from the RoCH registry
Por:
Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, Garcia-Cazorla A, Martinez-Pardo Casanova M, Cano A, Couce ML, Dalmau J, Peña-Quintana L, Rigalleau V, Touati G, Aldamiz-Echevarria L, Cathebras P, Eyer D, Brunet D, Damaj L, Dobbelaere D, Gay C, Hiéronimus S, Levrat V and Maillot F
Publicada:
14 mar 2019
Ahead of Print:
14 mar 2019
Resumen:
BackgroundThe Registry of Adult and Paediatric Patients Treated with Cystadane (R) - Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cystadane (R)) 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.ResultsA total of 125 patients with homocystinuria (adults [>18years]: 50; paediatric [18years]: 75) were enrolled at 29 centres in France and Spain. Patients were treated with betaine anhydrous for a mean duration of 7.44.3years. The median total daily dose of betaine anhydrous at the first and last study visits was 6g/day for cystathionine -synthase (CBS)-deficient vitamin B6 responders and 9g/day for methylenetetrahydrofolate reductase-deficient patients, while the median daily dose increased in CBS-deficient B6 non-responders (from 6 to 9g/day) and cobalamin metabolism-defective patients (from 3 to 6g/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.
Filiaciones:
Valayannopoulos V:
Hôpital Necker-Enfants Malades, Paris, France.
Sanofi Genzyme, 500 Kendall St, Cambridge, MA, 02140, USA.
Schiff M:
Hôpital Robert Debré, Paris, France
Guffon N:
Hôpital Femme Mère Enfant, Bron, France
Nadjar Y:
Hôpital Pitié-Salpêtrière, Paris, France
Garcia-Cazorla A:
Hospital St Joan de Déu, Barcelona, Spain
Martinez-Pardo Casanova M:
Hospital Universitario Ramón y Cajal, Madrid, Spain
Cano A:
Center of Reference for Inborn Metabolic Disease, CHU La Timone, Marseille, France
Couce ML:
Hospital Clínico Universitario, Santiago de Compostela-La Coruña, Spain
Dalmau J:
Hospital Universitario y Politécnico La Fe, Valencia, Spain
Peña-Quintana L:
Hospital Universitario Materno-Infantil, Universidad de Las Palmas de Gran Canaria, CIBER OBN, Las Palmas, Spain
Rigalleau V:
Hôpital Haut Leveque, Pessac, France
Touati G:
Hôpital des Enfants, Toulouse, France
Aldamiz-Echevarria L:
Hospital Universitario Cruces-Osakidetza, Barakaldo-Vizcaya, Spain
Cathebras P:
CHU Hôpital Nord, Saint-Etienne, France
Eyer D:
CHU Hautepierre, Strasbourg, France
Brunet D:
CHU La Timone, Marseille, France
Damaj L:
CHU Hôpital Sud, Rennes, France
Dobbelaere D:
Medical Reference Center for Inherited Metabolic Diseases, Jeanne de Flandre University Hospital and RADEME Research Team for Rare Metabolic and Developmental Diseases, Lille, France
Gay C:
CHU Hôpital Nord, Saint-Etienne, France
Hiéronimus S:
Hôpital l'Archet, CHU de Nice, France
Levrat V:
Centre Hospitalier Annecy Genevois, Pringy, France
Maillot F:
CHRU de Tours, Service de Médecine Interne, Université François Rabelais, Tours, France
Green Published, gold
|