Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: An open-label phase 1b trial

The Lancet

Volumn 384, Issue 9953, 2014, Pages 1513-1520

  Koenekoop, Robert K ^a   Sui, Ruifang ^b   Sallum, Juliana ^c   Van Den Born, L Ingeborgh ^d   Ajlan, Radwan ^a   Khan, Ayesha ^a   Den Hollander, Anneke I ^e   Cremers, Frans P M ^e   Mendola, Janine D ^f   Bittner, Ava K ^g   Dagnelie, Gislin ^g   Schuchard, Ronald A ^h   Saperstein, David A ⁱ  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^d ROTTERDAM EYE HOSPITAL   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^g JOHNS HOPKINS UNIVERSITY   (United States)

^h STANFORD UNIVERSITY   (United States)

ⁱ Vitreoretinal of Washington   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

11 CIS RETINAL; 9 CIS RETINOL ACETATE; AGENTS ACTING ON THE EYE; ASPARTATE AMINOTRANSFERASE; HIGH DENSITY LIPOPROTEIN; QLT091001; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; ACYLTRANSFERASE; CIS TRANS ISOMERASE; LECITHIN-RETINOL ACYLTRANSFERASE; RETINOID ISOMEROHYDROLASE; RETINOL; RETINOL ACETATE;

ADOLESCENT; ADULT; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CHILD; CHILDHOOD DISEASE; CHROMATOPHORE; CHRONOTHERAPY; CLINICAL ARTICLE; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DAILY LIFE ACTIVITY; DIZZINESS; DOSE RESPONSE; DRUG DOSE REDUCTION; DRUG EFFICACY; DRUG INDUCED HEADACHE; DRUG SAFETY; DRUG TOLERABILITY; EYE DISEASE; FEMALE; FOLLOW UP; FUNCTIONAL MAGNETIC RESONANCE IMAGING; FUNCTIONAL NEUROIMAGING; GENE; GENE MUTATION; HOT FLUSH; HUMAN; LEBER CONGENITAL AMAUROSIS; LIPOPROTEIN BLOOD LEVEL; LRAT GENE; MALE; OPEN STUDY; PATIENT ASSESSMENT; PHASE 1 CLINICAL TRIAL; PHOTOPHOBIA; PRESCHOOL CHILD; PROSPECTIVE STUDY; RETINA; RPE65 GENE; SCHOOL CHILD; SELF REPORT; SYSTEMIC DISEASE; TREATMENT RESPONSE; TRIACYLGLYCEROL BLOOD LEVEL; VISION; VISUAL ACUITY; VISUAL FIELD; ANALOGS AND DERIVATIVES; BLINDNESS; CLINICAL TRIAL; DEFICIENCY; DRUG EFFECTS; GENETICS; MUTATION; ORAL DRUG ADMINISTRATION; YOUNG ADULT;

ACYLTRANSFERASES; ADMINISTRATION, ORAL; ADOLESCENT; ADULT; BLINDNESS; CHILD; CIS-TRANS-ISOMERASES; HUMANS; LEBER CONGENITAL AMAUROSIS; MUTATION; PROSPECTIVE STUDIES; VISUAL ACUITY; VITAMIN A; YOUNG ADULT;

EID: 84908353007     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(14)60153-7     Document Type: Article

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