See the published version of this article at Orphanet Journal of Rare Diseases.
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Godfrey Chi-Fung Chan
University of Hong Kong
Corresponding Author
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Orphanet Journal of Rare Diseases.
Background:
We aim to elucidate the disease impact by accounting the prevalence, survival rate, genetics, drug use and direct costs of tuberous sclerosis complex (TSC) in our local setting. TSC patients with documented visits to our local public hospitals in 1995-2018 were identified. The public hospitals captured most if not all local TSC patients. Demographics such as age, sex, death, genetic profiles were retrieved from the central electronic database. Data including prevalence, age distribution and survival rate were analysed. Direct cost was calculated with reference to the drug use and number of visits to various public hospital facilities.
Results:
We identified 284 surviving TSC patients (55.3% male) in Hong Kong. The age range was from 4.5 months to 89.9 years, with a median age of 27.2 years. Paediatrics (<18 years) to adult (≥18 years) ratio was 1:2.84. The overall prevalence of TSC patients was 3.87 in 100,000 (i.e. 1 in 25,833). Genetically, TSC1:TSC2 ratio is 1:2.7.
Thirty seven patients died within the study period. The age of death ranged from 7.6 years to 77.8 years, with a median age of death at 36.6 years (IQR: 24.7-51.1 years). Most patients survived till adulthood. Survival rate at 20 and 50 years follow-up was 98.6% and 79.5% respectively.
Forty seven (16.5%) TSC patients were prescribed with mTOR inhibitors within the study period. Healthcare facility utilization was further analysed in the 2008-2018 cohort. In particular, the mean number of specialist out-patient clinic visits per patient-year was 9.23 per patient-year, which was 4.91 times more than that of local general population.
Conclusions:
Prevalence of local TSC patients is within the range of that reported in the literature. Local TSC patients have fair long term survival, but they require disproportionally high healthcare cost when compared with the general population, particularly in terms of outpatient (OP) visits. Although effective disease-modifying agent (i.e. mTOR inhibitor) is available, it was not widely used yet in Hong Kong. Further research on quality of life and setting up a comprehensive patient registry are necessary for more accurate assessment of cost and benefit.
Keywords
Tuberous Sclerosis, epidemiology, prevalence, mortality, survival, treatment, mTOR inhibitor, healthcare burden, healthcare resources
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Peer Review Timeline
CURRENT STATUS: Published
Published
On 25 Sep, 2020
No community comments so far
Editorial decision: Accept
On 18 Aug, 2020
Review #2 received
Received 17 Aug, 2020
Review #1 received
Received 12 Aug, 2020
Reviewer #1 agreed
On 09 Aug, 2020
Reviewer #2 agreed
On 09 Aug, 2020
Reviewers invited
Invitations sent on 08 Aug, 2020
Editor assigned
On 05 Aug, 2020
Submission checks complete
On 04 Aug, 2020
Editor invited
On 04 Aug, 2020
Version 1
Posted 15 Apr, 2020
No comments provided
Editorial decision: Major revision
On 05 Jul, 2020
Review #3 received
Received 30 Jun, 2020
Review #2 received
Received 30 Jun, 2020
Reviewer #3 agreed
On 28 Jun, 2020
Review #1 received
Received 18 May, 2020
Reviewer #1 agreed
On 08 May, 2020
Reviewer #2 agreed
On 08 May, 2020
Reviewers invited
Invitations sent on 04 May, 2020
Editor assigned
On 13 Apr, 2020
Submission checks complete
On 12 Apr, 2020
Editor invited
On 12 Apr, 2020
First submitted
On 08 Apr, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
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This preprint is under consideration at Orphanet Journal of Rare Diseases. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research
Godfrey Chi-Fung Chan
University of Hong Kong
Corresponding Author
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
Published
On 25 Sep, 2020
No community comments so far
Editorial decision: Accept
On 18 Aug, 2020
Review #2 received
Received 17 Aug, 2020
Review #1 received
Received 12 Aug, 2020
Reviewer #1 agreed
On 09 Aug, 2020
Reviewer #2 agreed
On 09 Aug, 2020
Reviewers invited
Invitations sent on 08 Aug, 2020
Editor assigned
On 05 Aug, 2020
Submission checks complete
On 04 Aug, 2020
Editor invited
On 04 Aug, 2020
Version 1
Posted 15 Apr, 2020
No comments provided
Editorial decision: Major revision
On 05 Jul, 2020
Review #3 received
Received 30 Jun, 2020
Review #2 received
Received 30 Jun, 2020
Reviewer #3 agreed
On 28 Jun, 2020
Review #1 received
Received 18 May, 2020
Reviewer #1 agreed
On 08 May, 2020
Reviewer #2 agreed
On 08 May, 2020
Reviewers invited
Invitations sent on 04 May, 2020
Editor assigned
On 13 Apr, 2020
Submission checks complete
On 12 Apr, 2020
Editor invited
On 12 Apr, 2020
First submitted
On 08 Apr, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Orphanet Journal of Rare Diseases.
Background:
We aim to elucidate the disease impact by accounting the prevalence, survival rate, genetics, drug use and direct costs of tuberous sclerosis complex (TSC) in our local setting. TSC patients with documented visits to our local public hospitals in 1995-2018 were identified. The public hospitals captured most if not all local TSC patients. Demographics such as age, sex, death, genetic profiles were retrieved from the central electronic database. Data including prevalence, age distribution and survival rate were analysed. Direct cost was calculated with reference to the drug use and number of visits to various public hospital facilities.
Results:
We identified 284 surviving TSC patients (55.3% male) in Hong Kong. The age range was from 4.5 months to 89.9 years, with a median age of 27.2 years. Paediatrics (<18 years) to adult (≥18 years) ratio was 1:2.84. The overall prevalence of TSC patients was 3.87 in 100,000 (i.e. 1 in 25,833). Genetically, TSC1:TSC2 ratio is 1:2.7.
Thirty seven patients died within the study period. The age of death ranged from 7.6 years to 77.8 years, with a median age of death at 36.6 years (IQR: 24.7-51.1 years). Most patients survived till adulthood. Survival rate at 20 and 50 years follow-up was 98.6% and 79.5% respectively.
Forty seven (16.5%) TSC patients were prescribed with mTOR inhibitors within the study period. Healthcare facility utilization was further analysed in the 2008-2018 cohort. In particular, the mean number of specialist out-patient clinic visits per patient-year was 9.23 per patient-year, which was 4.91 times more than that of local general population.
Conclusions:
Prevalence of local TSC patients is within the range of that reported in the literature. Local TSC patients have fair long term survival, but they require disproportionally high healthcare cost when compared with the general population, particularly in terms of outpatient (OP) visits. Although effective disease-modifying agent (i.e. mTOR inhibitor) is available, it was not widely used yet in Hong Kong. Further research on quality of life and setting up a comprehensive patient registry are necessary for more accurate assessment of cost and benefit.
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