Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions

Molecular Genetics and Metabolism

Volumn 118, Issue 2, 2016, Pages 65-69

  Shapiro, Elsa ^a,b   Bernstein, Jessica ^c   Adams, Heather R ^d   Barbier, Ann J ^e,l   Buracchio, Teresa ^c   Como, Peter ^f   Delaney, Kathleen A ^a,b   Eichler, Florian ^g   Goldsmith, Jonathan C ^c   Hogan, Melissa ^h   Kovacs, Sarrit ^c   Mink, Jonathan W ^d   Odenkirchen, Joanne ⁱ   Parisi, Melissa A ^j   Skrinar, Alison ^k   Waisbren, Susan E ^g   Mulberg, Andrew E ^c  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b Shapiro and Delaney LLC   (United States)

^c CENTER FOR DRUG EVALUATION AND RESEARCH   (United States)

^d UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^e SHIRE   (United States)

^f CENTER FOR DEVICES AND RADIOLOGICAL HEALTH   (United States)

^g HARVARD MEDICAL SCHOOL   (United States)

^h Saving Case and Friends   (United States)

ⁱ NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^j EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^k ULTRAGENYX PHARMACEUTICAL INC   (United States)

^l AGIOS PHARMACEUTICALS   (United States)

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Author keywords

Clinical outcome assessment; Drug development; Inborn errors; Natural history studies; Neurocognitive; Rare diseases

Indexed keywords

BIOLOGICAL MARKER;

ACTIVITY OF DAILY LIVING ASSESSMENT; BEHAVIOR ASSESSMENT; CAREGIVER; CLINICAL RESEARCH; COGNITION ASSESSMENT; COMMON DATA ELEMENTS; DATA COLLECTION METHOD; DISEASE COURSE; DOSE CALCULATION; DRUG DEVELOPMENT; DRUG EFFICACY; FOOD AND DRUG ADMINISTRATION; HUMAN; INBORN ERROR OF METABOLISM; INSTRUMENT VALIDATION; LANGUAGE; MEDICAL DECISION MAKING; NOTE; OUTCOME ASSESSMENT; PARENT; PATIENT SAFETY; PHYSICAL CAPACITY; PRIORITY JOURNAL; PROFESSIONAL KNOWLEDGE; QUALITY OF LIFE; RARE DISEASE; REMOTE SENSING; RISK BENEFIT ANALYSIS; STUDY DESIGN; TREATMENT OUTCOME; WORKSHOP; CHILD; CHILD DEVELOPMENT; CLINICAL TRIAL (TOPIC); DEMENTIA ASSESSMENT; DISEASE EXACERBATION; NATIONAL HEALTH ORGANIZATION; STANDARDS; UNITED STATES;

CAREGIVERS; CHILD; CHILD DEVELOPMENT; CLINICAL TRIALS AS TOPIC; DISEASE PROGRESSION; HUMANS; MENTAL STATUS AND DEMENTIA TESTS; METABOLISM, INBORN ERRORS; NATIONAL INSTITUTES OF HEALTH (U.S.); OUTCOME ASSESSMENT (HEALTH CARE); PARENTS; RARE DISEASES; REMOTE SENSING TECHNOLOGY; UNITED STATES; UNITED STATES FOOD AND DRUG ADMINISTRATION;

EID: 84964573652     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2016.04.006     Document Type: Note

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