Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?

Journal of Inherited Metabolic Disease

Volumn 24, Issue 2, 2001, Pages 291-298

  Wilcken, B ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL OBSERVATION; CLINICAL PRACTICE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; DISEASE COURSE; EARLY DIAGNOSIS; EVIDENCE BASED MEDICINE; HISTORY; HUMAN; INBORN ERROR OF METABOLISM; METHODOLOGY; NEWBORN SCREENING; RANDOMIZED CONTROLLED TRIAL; RETROSPECTIVE STUDY; STATISTICAL PARAMETERS; TREATMENT OUTCOME;

CLINICAL TRIALS; GENETIC DISEASES, INBORN; HUMANS; RANDOMIZED CONTROLLED TRIALS; RESEARCH DESIGN;

EID: 0035000904     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1010387522195     Document Type: Article

References (23)

1. Andresen BS, Dobrowoloski SF, O'Reilly L, et al (2000) The mutational spectrum in the MCAD gene of newborns identified by prospective tandem MS screening for 'diagnostic' acyl-carnitines in blood spots differs from that observed in clinically affected patients. J Inherit Metab Dis 23(supplement 1): 12.
2. Alger S, Green A, Kohler W, Sokolwski P, Moser H (2000) Proceedings of the 4th International Workshop of the Adrenolekodystrophy International Research Group, September 1998. J. Inherit Metab Dis 23: 449-452.
3. Bickel H, Gerrard J, Hickmans EM (1953) Influence of phenylalanine intake on phenylketonuria Lancet ii: 812-813.
4. Carpenter KH, Wiley V, Sim KS, Hammond J, Heath D, Wilcken B (2000) Newborn screening for MCAD deficiency: the New South Walse experience. J Inherit Metab Dis 23(supplement 1):16.
5. Coulombe JT, Kammerer BL, Levy HL, Hirsch BZ, Scriver CR (1983) Histidinaemia part III: Impact: a prospective study. J Inher Metab Dis 6: 58-61.
6. Edwards SJ, Lilford RJ, Braunholtz D, Jackson J (1997) Why underpowered trials are not necessarily unethical. Lancet 350: 804-847.
7. Ghadimi H, Partington MW (1967) Salient features of histidinemia. Am J Dis Child 113: 83-87.
8. Griffiths M (1987) 'Underpowered' trials. Lancet 350: 1406-1407.
9. Koch R, Moats R, Guttler F, Guldberg P, Nelson M Jr (2000) Blood-brain phenylalanine relationships in persons with phenylketonuria. Pediatrics 106: 1093-1096.
10. Lilford RJ, Thornton JG, Braunholtz, D (1995) Clinical trials and rare diseases: a way out of the conundrum Br Med J 311: 1621-1625.
11. Lindner M, Zschocke J, Schulze A, et al (2000) Tandem mass spectrometry detects mild MCAD deficiency with negative phenylpropionic acid test. J Inherit Metab Dis 23(supplement 1): 125.
12. Morrow G, Barness LA (1968) Methylmalonic aciduria. A newly discovered inborn error. Ann Intern Med 69: 633-635.
13. Moser HW, Bexman L, Lu SE, Raymond GV (2000) Therapy of X-linked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trials. J Inherit Metab Dis 23: 273-277.
14. Mudd SH, Skovby F, Levy HL, et al (1985) The natural history of homocystinuria due to cystathonine β-synthase deficiency. Am J Hum Genet 37: 1-31.
15. Pitt D, Danks D (1991) The natural history of untreated phenylketonuria over 20 years. J Paediatr Child Health 27: 189-190.
16. Pocock SJ, Elbourne DR (2000) Randomized trials or observational tribulations? N Engl J Med 342: 1907-1909.
17. Rizzo WB, Leshner RT, Odone A, et al (1989) Dietary erucic acid therapy for X-linked adrenoleukodystrophy. Neurology 39: 1415-1422.
18. Roscher A, Liebl B, Fingerhut, Olgemoller B (2000) Prospective study of MS-MS newborn screening in Bavaria, Germany. Interim results. J Inherit Metab Dis 23(Suppl. 1): 4.
19. Sacks H, Chalmers TC, Smith H Jr (1982) Randomized versus historical controls for clinical trials. Am J Med 72: 233-240.
20. Smith I, Beasley MG, Ades AE (1990) Intelligence and quality of dietary treatment in phenylketonuria. Arch Dis Child 65: 472-478.
21. Walter JH, Michalski A, Wilson WM, Leonard JV, Barrett TM, Dillon MJ (1989) Chronic renal failure in methylamalonic acidaemia. Eur J Pediatr 148: 344-348.
22. Wilcken B (2000) Two years of routine newborn screening by tandem mass spectrometry. J Inherit Metab Dis 23 (Suppl. 1): 4.
23. Wiltshire EJ, Poplawski NK, Harrison JR, Fletch JM (2000) Treatment of late-onset non-ketotic hperglycinaemia: effectiveness of imipramine and benzoate. J Inherit Metab Dis 23: 15-21.