AzTrials
AzTrials

Cerebral Small Vessel DiseasesHCSVD-TRCNCT06512376

Hereditary Cerebral Small Vessel Diseases Registry-Trial Ready Cohort

An observational study of Cerebral Small Vessel Diseases and Hereditary, run by Beijing Tiantan Hospital at 1 site in China.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Official record
Search all trials

Trial summary

We took hereditary cerebral small vessel disease (hCSVD) patients as our main subjects, aiming to establish a platform for a comprehensive evaluation and long-term follow-up. Deeply explore the pathophysiological mechanism of hCSVD, which may render the theoretical basis for the treatment and management of hCSVD. Read more about this study

Who is it for?
Any age
Conditions the study is for
Cerebral Small Vessel Diseases, Hereditary
How many people
100 participants
Where
1 siteChina
Study dates
19 Jul 2022to 19 Jul 2027
How long will I take part?
5 Years
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Any age
  • All sexes
  • No healthy volunteers
  • Child, Adult, Older adult

Study population: hCSVD with identified gene mutations, and highly-suspected hCSVD without any identified gene mutation

Who may be able to join

  • All ages, male or female
  • Carriers of the pathogenic genes mutation (mutation with unknown clinical significance/ suspected pathogenic mutation/ pathogenic mutation) of hCSVD confirmed by the gene tests, including but not limited to NOTCH3, HTPA1, CTSA, GLA, TREX1, COL4A1/2, or highly-suspected hCSVD2
  • CSVD related abnormalities on brain MRI, any 1 or more of:
  • White matter hyperintensities, Fazekas score3 ≥1
  • ≥1 newly-occurred lacunar infarcts
  • ≥1 old lacunar infarcts
  • ≥3 cerebral microbleeds
  • Informed consent signed

Who cannot join

  • Diagnosis of mental disorders according to DSM-V and unable to be compliant to the research
  • Patients with life expectancy less than one year due to any advanced disease, e.g., malignant tumor
  • Patients unable to return for follow-up visits due to some reasons

Trial locations and contacts

1 site in 1 country.

China1 site

  • Beijing Tiantan Hospital

    Beijing, 100050

Other trials in China

About this study

Official title: Hereditary Cerebral Small Vessel Diseases Registry-Trial Ready Cohort (HCSVD-TRC)

We took hereditary cerebral small vessel disease (hCSVD) patients as our main subjects, aiming to establish a platform for a comprehensive evaluation and long-term follow-up. Deeply explore the pathophysiological mechanism of hCSVD, which may render the theoretical basis for the treatment and management of hCSVD.

Read the detailed description

Cerebral Small Vessel Disease is a series of clinical, imaging, and pathological syndromes caused by a variety of risk factors affecting cerebral arterioles, arterioles, capillaries, and venules, accounting for 20% of stroke and 45% of dementia.

Although the incidence rate of hereditary small cerebral vascular disease is low, because of its early onset, high disability rate, and lack of effective treatment, it also brings a heavy burden to the patients and their families. Therefore, it is important to study the pathogenic gene, pathogenesis, clinical characteristics, and imaging manifestations of hereditary cerebrovascular disease to provide a theoretical basis for the treatment and prevention of hereditary cerebrovascular disease in the future.

This multi-center, prospective, continuous, registry study, runs from 2022 to 2027. The study is expected to recruit 100 subjects, according to the sample size design of the registry study.

We recruited patients with the hereditary cerebral small-vessel disease (hCSVD) intending to establish a platform for a comprehensive assessment and long-term follow-up by collecting genetics, imaging, and clinical symptoms of the primary disease and its relatives. With long-term follow-up of the development and prognosis of imaging and clinical symptoms combined with genetics, we will work on the correlation between genes and phenotype and deeply explore the pathophysiological mechanism of hCSVD, which may render the theoretical basis for the treatment and management of hCSVD.

Keywords
hCSVD, multi-center, prospective, continuous, registry
Medical subject headings
Cerebral Small Vessel Diseases

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. The epidemiological features

    Any epidemiological informations

    Measured: at baseline

  2. The clinical features

    Clinical symptoms and physical examination

    Measured: 5 years

  3. The radiography features

    Neuroimaging markers collected by MRI

    Measured: at baseline

  4. A novel pathogenic gene for hereditary cerebrovascular disease in the Chinese population

    Genetic testing with the blood sample

    Measured: at baseline

Secondary outcomes (2)

  1. Etiology and pathogenesis

    This study will collect etiology and pathogenesis information among participants.

    Measured: at baseline

  2. Long-term changes of radiography features

    Neuroimaging markers collected by MRI

    Measured: 5 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted22 Jul 2024
  2. Study start19 Jul 2022
  3. Primary completion19 Jul 2027 (estimated)
  4. Study completion19 Jul 2027 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
100 participants (actual)
Target duration
5 Years
IDs, dates and publications
ClinicalTrials.gov ID
NCT06512376
Sponsor's protocol ID
KY-2022-074-02
Acronym
HCSVD-TRC
Status last verified
Jan 2024
First submitted
16 Jul 2024
Last updated
22 Jul 2024
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Publications

  • Pantoni L. Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges. Lancet Neurol. 2010 Jul;9(7):689-701. doi: 10.1016/S1474-4422(10)70104-6.

    PubMed 20610345

  • Gorelick PB, Scuteri A, Black SE, Decarli C, Greenberg SM, Iadecola C, Launer LJ, Laurent S, Lopez OL, Nyenhuis D, Petersen RC, Schneider JA, Tzourio C, Arnett DK, Bennett DA, Chui HC, Higashida RT, Lindquist R, Nilsson PM, Roman GC, Sellke FW, Seshadri S; American Heart Association Stroke Council, Council on Epidemiology and Prevention, Council on Cardiovascular Nursing, Council on Cardiovascular Radiology and Intervention, and Council on Cardiovascular Surgery and Anesthesia. Vascular contributions to cognitive impairment and dementia: a statement for healthcare professionals from the american heart association/american stroke association. Stroke. 2011 Sep;42(9):2672-713. doi: 10.1161/STR.0b013e3182299496. Epub 2011 Jul 21.

    PubMed 21778438

  • Nam KW, Kwon HM, Lim JS, Han MK, Nam H, Lee YS. The presence and severity of cerebral small vessel disease increases the frequency of stroke in a cohort of patients with large artery occlusive disease. PLoS One. 2017 Oct 9;12(10):e0184944. doi: 10.1371/journal.pone.0184944. eCollection 2017.

    PubMed 28991905

  • Federico A, Di Donato I, Bianchi S, Di Palma C, Taglia I, Dotti MT. Hereditary cerebral small vessel diseases: a review. J Neurol Sci. 2012 Nov 15;322(1-2):25-30. doi: 10.1016/j.jns.2012.07.041. Epub 2012 Aug 4.

    PubMed 22868088

  • Tan R, Traylor M, Rutten-Jacobs L, Markus H. New insights into mechanisms of small vessel disease stroke from genetics. Clin Sci (Lond). 2017 Apr 1;131(7):515-531. doi: 10.1042/CS20160825.

    PubMed 28302914

  • Adib-Samii P, Brice G, Martin RJ, Markus HS. Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals. Stroke. 2010 Apr;41(4):630-4. doi: 10.1161/STROKEAHA.109.568402. Epub 2010 Feb 18.

    PubMed 20167921

  • Singhal S, Bevan S, Barrick T, Rich P, Markus HS. The influence of genetic and cardiovascular risk factors on the CADASIL phenotype. Brain. 2004 Sep;127(Pt 9):2031-8. doi: 10.1093/brain/awh223. Epub 2004 Jun 30.

    PubMed 15229130

  • de Boer I, Pelzer N, Terwindt G. Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. 2019 Sep 19. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK546576/

    PubMed 31536185

  • Mancuso M, Arnold M, Bersano A, Burlina A, Chabriat H, Debette S, Enzinger C, Federico A, Filla A, Finsterer J, Hunt D, Lesnik Oberstein S, Tournier-Lasserve E, Markus HS. Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology. Eur J Neurol. 2020 Jun;27(6):909-927. doi: 10.1111/ene.14183. Epub 2020 Mar 20.

    PubMed 32196841

  • Peters N, Freilinger T, Opherk C, Pfefferkorn T, Dichgans M. Effects of short term atorvastatin treatment on cerebral hemodynamics in CADASIL. J Neurol Sci. 2007 Sep 15;260(1-2):100-5. doi: 10.1016/j.jns.2007.04.015. Epub 2007 May 24.

    PubMed 17531269

  • Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20.

    PubMed 25795794

  • Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001 Jun 6;285(21):2743-9. doi: 10.1001/jama.285.21.2743.

    PubMed 11386930

  • Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.

    PubMed 27509102

  • Rutten JW, Dauwerse HG, Peters DJ, Goldfarb A, Venselaar H, Haffner C, van Ommen GJ, Aartsma-Rus AM, Lesnik Oberstein SA. Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept. Brain. 2016 Apr;139(Pt 4):1123-35. doi: 10.1093/brain/aww011. Epub 2016 Feb 19.

    PubMed 26912635

  • Liu XY, Gonzalez-Toledo ME, Fagan A, Duan WM, Liu Y, Zhang S, Li B, Piao CS, Nelson L, Zhao LR. Stem cell factor and granulocyte colony-stimulating factor exhibit therapeutic effects in a mouse model of CADASIL. Neurobiol Dis. 2015 Jan;73:189-203. doi: 10.1016/j.nbd.2014.09.006. Epub 2014 Sep 22.

    PubMed 25251607

Questions about this trial

What is this clinical trial studying?

An observational study of Cerebral Small Vessel Diseases and Hereditary, run by Beijing Tiantan Hospital at 1 site in China.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 8 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: under way, not looking for participants, as of the sponsor's last update on 22 Jul 2024. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

The epidemiological features (time frame: at baseline). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT06512376, which also lists 15 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jul 2024; AzTrials last refreshed its copy on 7 Nov 2026.

AzTrials uses cookies for analytics and advertising. You can accept or reject them; the site works either way. Privacy Policy.

Free account

Log in to keep searching

You’ve used your 3 free searches. AzTrials is free: log in or create a free account to keep searching clinical trials and save the ones you want to follow.

Create a free accountLog in