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Table 4 Responses to ranking questions

From: Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

Question

Ranking position that reached consensus

Rank selected (% selecting specified rank)

Delphi questionnaire round

Please rank the following indicators in order of which has the greatest diagnostic value, when considering a CTX diagnosis (1 = greatest diagnostic value; 5 = least diagnostic value)

CYP27A1 genetic mutation*

1

1 (80)

Round 2

An affected sibling

Consensus not reached

2 (33)

3 (33)

4 (0)

5 (33)

Round 3

Clinical signs and symptoms

Consensus not reached

2 (22)

3 (33)

4(44)

5 (0)

Round 3

Biochemical pathogenesis

Consensus not reached

2 (56)

3 (22)

4 (11)

5 (11)

Round 3

Brain MRI findings

Consensus not reached

2 (0)

3 (22)

4 (22)

5 (56)

Round 3

Please rank the following tests/examinations in order of importance when confirming a CTX diagnosis (1 = most important; 5 = least important)

Genetic testing alone

1

1 (90)

Round 2

Determination of serum cholestanol levels

2

2 (80)

Detection of urinary bile alcohols

Consensus not reached

3 (38)

4 (50)

5 (13)

Round 3

Determination of plasma bile acids (mainly cholic acid and chenodeoxycholic acid)

Consensus not reached

3 (33)

4 (56)

5 (11)

Round 3

Conventional brain MRI

Consensus not reached

3 (22)

4 (33)

5 (44)

Round 3

Please rank the following factors in order of their impact on treatment outcomes in patients with CTX (1 = greatest impact; 5 = least impact)

Age at diagnosis and treatment initiation

1

1 (90)

Round 2

Extent of neurological deterioration

2

2 (80)

Round 2

Cholestanol level at diagnosis

5

5 (89)

Round 3

Treatment compliance

Consensus not reached

3 (67)

4 (22)

5 (11)

Round 3

Characteristics of cerebellar signal abnormalities

Consensus not reached

3 (33)

4 (67)

5 (0)

Round 3

Please rank the following therapy options in order of their effectiveness for treating the underlying biochemical abnormalities in CTX (1 = most effective; 5 = least effective)

CDCA alone

1

1 (80)

Round 2

LDL apheresis

5

5 (71)

Round 2

CDCA and HMG-CoA reductase inhibitor†

2

2 (71)

Round 3

Cholic acid alone

Consensus not reached

2 (33)

3 (0)

4 (67)

Round 3

Cholic acid and HMG-CoA reductase inhibitor

Consensus not reached

2 (20)

3 (60)

4 (20)

Round 3

Please indicate when the most beneficial time to start CTX treatment is by ranking the below options (1 = most beneficial; 4 = least beneficial)

From birth following a positive newborn screening test for CTX

1

1 (90)

Round 2

Upon CTX diagnosis (with or without symptom onset)

2

2 (80)

Round 2

Upon symptom onset in patients diagnosed with CTX

3

3 (90)

Round 2

Upon presentation of neurological symptoms in patients diagnosed with CTX

4

4 (90)

Round 2

Please rank the following examinations and tests in order of their usefulness when monitoring paediatric patients receiving CTX treatment (1 = most useful; 5 = least useful)

Cholestanol plasma concentration

1

1 (78)

Round 2

Neurologic examination (and if necessary neuropsychologic evaluation)

2

2 (78)

Round 3

Brain MRI

Consensus not reached

2 (11)

3 (33)

4 (33)

5 (22)

Round 3

Liver function tests

Consensus not reached

2 (22)

3 (44)

4 (11)

5 (22)

Round 3

Urinary bile alcohol concentration

Consensus not reached

2 (13)

3 (13)

4 (50)

5 (25)

Round 3

Please rank the following examinations and tests in order of their usefulness when monitoring adult patients receiving CTX treatment (1 = most useful; 5 = least useful)

Cholestanol plasma concentration

1

1 (70)

Round 2

Neurologic examination (and if necessary neuropsychologic evaluation)

2

2 (78)

Round 3

Brain MRI

Consensus not reached

2 (11)

3 (33)

4 (44)

5 (11)

Round 3

Liver function tests

Consensus not reached

2 (22)

3 (44)

4 (11)

5 (22)

Round 3

Urinary bile alcohol concentration

Consensus not reached

2 (13)

3 (0)

4 (50)

5 (38)

Round 3

Levels of serum cholestanol alone

Consensus not reached

1 (22)

2 (22)

3 (22)

4 (22)

5 (11)

Round 3

Clinical presentation/neurological examination

Consensus not reached

1 (56)

2 (22)

3 (11)

4 (0)

5 (11)

Round 3

Brain MRI

Consensus not reached

1 (0)

2 (11)

3 (44)

4 (22)

5 (22)

Round 3

Levels of urinary bile alcohols

Consensus not reached

1 (13)

2 (0)

3 (25)

4 (38)

5 (25)

Round 3

Electrophysiological examinations (e.g. electromyography, nerve conduction velocity, electroencephalography)

Consensus not reached

1 (11)

2 (22)

3 (22)

4 (11)

5 (33)

Round 3

  1. A total of 10 panellists answered questions in Rounds 1 and 2, and 9 in Round 3. Ranking positions achieving consensus (≥ 70% panellists ranking an option in a particular position) are shown for the round in which consensus was reached and highlighted in bold. Where questions did not achieve consensus throughout the study, the results are shown for Round 3. In some cases, panellists assigned the same ranking position to multiple options. If consensus on a ranking position was achieved in Round 2, panellists were not asked to rank options in that position in Round 3. *Phrased as in the original survey question; ‘genetic mutations’ referred to as ‘pathogenic variants’ in the text
  2. †Panellists came to consensus agreement about CDCA alone in Round 1 and CDCA in combination with HMG-CoA reductase inhibitors in Round 2, where CDCA alone was no longer included as an option
  3. CDCA: chenodeoxycholic acid; CTX: Cerebrotendinous xanthomatosis; HMG-CoA: 5-hydroxy-3-methylglutaryl-coenzyme A; LDL: low-density lipoprotein; MRI: magnetic resonance imaging
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172