NCT03657732

Brief Summary

This research will establish and continuously improve the FAD research network in conjunction with multi-center institutions nationwide. By collecting information on the family's demography, genetics, neuropsychology, neuroimaging, biomarkers and other information, we can understand the current FAD population in China, clarify the genetic characteristics, pathogenesis, disease characteristics and diagnosis and treatment status of AD in China; which will lay the foundation for ameliorating clinical diagnosis and treatment, establishing a Chinese FAD clinical database and an international cooperative research platform.

  1. 1.To set up a multi-center, nationwide FAD research network and database platform in China
  2. 2.To clarify the epidemiological characteristics of FAD in China.
  3. 3.To clarify the genetic characteristics of FAD in China.
  4. 4.To clarify the clinical characteristics and disease development laws of FAD.
  5. 5.To discover and verify the early diagnosis biomarkers of AD.
  6. 6.To establish a genetic counseling model.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
40,000

participants targeted

Target at P75+ for all trials

Timeline
142mo left

Started Jan 2005

Longer than P75 for all trials

Geographic Reach
1 country

65 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress64%
Jan 2005Jan 2038

Study Start

First participant enrolled

January 10, 2005

Completed
13.6 years until next milestone

First Submitted

Initial submission to the registry

August 21, 2018

Completed
15 days until next milestone

First Posted

Study publicly available on registry

September 5, 2018

Completed
19.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2038

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2038

Last Updated

March 23, 2026

Status Verified

March 1, 2026

Enrollment Period

33 years

First QC Date

August 21, 2018

Last Update Submit

March 19, 2026

Conditions

Alzheimer DiseaseFamilial Alzheimer Disease (FAD)

Keywords

Alzheimer's Disease

Outcome Measures

Primary Outcomes (2)

  • The prevalence of gene mutations in familial Alzheimer's disease in China.

    Gene analysis of known mutations (PSEN1, PSEN2 and APP), apolipoprotein E (APOE) genotype and unknown mutations in familial Alzheimer's disease patients.

    An Average of 1 year

  • The development patterns of genetic, biofluid, imaging, and neuropsychological markers of FAD.

    The development patterns of genetic, biofluid, imaging, and neuropsychological markers of FAD. The dynamic changes of biochemical, pathological, structural and functional markers with disease progression.

    An Average of 3 to 10 years

Secondary Outcomes (7)

  • Changes of neuropsychological function in pedigree members at different stage of cognitive impairment in familial Alzheimer's disease in China.

    An Average of 1 year

  • Changes of brain structure in pedigree members at different stage of cognitive impairment in familial Alzheimer's disease in China.

    An Average of 1 year

  • Changes of brain glucose metabolism in pedigree members at different stage of cognitive impairment in familial Alzheimer's disease in China.

    An Average of 1 year

  • Changes of brain amyloid deposition in pedigree members at different stage of cognitive impairment in familial Alzheimer's disease in China.

    An Average of 1 year

  • Changes of brain tau deposition in pedigree members at different stage of cognitive impairment in familial Alzheimer's disease in China.

    An Average of 1 year

  • +2 more secondary outcomes

Study Arms (2)

Familial Alzheimer's disease group

Familial Alzheimer's disease with the known mutation presenilin1 (PSEN1), presenilin2 (PSEN2) and amyloid precursor protein (APP) including mutation carriers and noncarriers, presymptomatic and symptomatic.

Normal control group

Normal cognitive control people

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with family histroy of Alzheimer's disease, characterised with at least two first-degree relatives.

You may qualify if:

  • Written informed consent obtained from the participant or a legal guardian prior to any study-related procedures;
  • At least two first-degree relatives in a family have AD (clinically or by testing)，and at least 3 out of 2 generations are patients;
  • At least one family member with normal cognitive function (the age should be greater than the average age of onset of the family);
  • Pedigrees carrying FAD pathogenic genes (APP/PSEN1/PSEN2);
  • People in this family \>18 years old can be recruited;
  • Participant is cognitively normal or demented but not reaching bedridden level;
  • Participants are able to provide two reliable informants who can provide clinical information;
  • Dementia is diagnosed according to the criteria described by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-R );
  • The diagnosis of AD is made using the National Institute of Neurologic and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorders Association (NINCDS-ADRDA ) or National Institute on Aging and the Alzheimer's Association (NIA-AA) criteria ;
  • The diagnosis of MCI is made according to Petersen criteria and the classification is according to the method of Lopez et al.

You may not qualify if:

  • Dementia caused by other factors such as depression, other psychiatric illnesses, thyroid dysfunction, encephalitis, multiple sclerosis, brain trauma, brain tumor, syphilis, acquired immunodeficiency syndrome (AIDS), Creutzfeldt-Jakob disease and other types of dementias such as vascular dementia (VaD), frontotemporal dementia (FTD), dementia with Lewy bodies (DLB), and Parkinson's dementia (PDD)；
  • MRI and laboratory tests do not support or rule out a diagnosis of AD；
  • Severe circulatory, respiratory, urinary, digestive, hematopoietic diseases (such as unstable angina, uncontrollable asthma, active gastric bleeding) and cancer；
  • Participant has severe psychiatric illness or severe dementia that would interfere in completing initial and follow-up clinical assessments；
  • Participant has a history of alcoholism or drug abuse；
  • Pregnant or lactating women；
  • No reliable informant；
  • Normal control group
  • Aged 18 (inclusive) or above;
  • Normal MMSE and MoCA evaluations. MMSE\>19 points for illiteracy, \>24 points for those educated less than 7 years, \>27 points for those educated equal to or more than 7 years. MoCA\>13 points for illiteracy, \>19 points for those educated less than 7 years, \>24 points for those educated equal to or more than 7 years.
  • Subjects with abnormal MMSE or MoCA scores;
  • Subjects with a history of cerebral infarction, traumatic brain injury or related manifestations in MRI;
  • Other neurological diseases that can cause brain dysfunction (such as depression, brain tumor, Parkinson's disease, metabolic encephalopathy, encephalitis, multiple sclerosis, epilepsy, brain trauma, normal intracranial pressure hydrocephalus, etc.);
  • Other systemic diseases that can cause cognitive impairment (such as liver, renal and thyroid insufficiency, severe anemia, folic acid or vitamin B12 deficiency, syphilis, HIV infection, alcohol and drug abuse, etc.);
  • Mental and neurodevelopmental retardation;
  • +4 more criteria

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (65)

The First Affiliated Hospital of Anhui Medical University

Hefei, Anhui, China

RECRUITING

Beijing Geriatric Hospital

Changping, Beijing Municipality, China

RECRUITING

Beijing Chao Yang Hospital

Chaoyang, Beijing Municipality, China

RECRUITING

China-Japan Friendship Hospital

Chaoyang, Beijing Municipality, China

RECRUITING

Dongfang Hospital Affiliated to Beijing University of Chinese Medicine

Fengtai, Beijing Municipality, China

RECRUITING

Chinese PLA General Hospital

Haidian, Beijing Municipality, China

RECRUITING

Fu Xing Hospital, Capital Medical University

Haidian, Beijing Municipality, China

RECRUITING

Peking University Third Hospital

Haidian, Beijing Municipality, China

RECRUITING

Peking Union Medical College Hospital

Xicheng, Beijing Municipality, China

RECRUITING

Peking University First Hospital

Xicheng, Beijing Municipality, China

RECRUITING

Daping Hospital and the Research Institute of Surgery of the Third Military Medical University

Yuzhong, Chongqing Municipality, China

RECRUITING

The Second Affiliated Hospital of Chongqing Medical University

Yuzhong, Chongqing Municipality, China

RECRUITING

Fujian Medical University Union Hospital

Fujian, Guangdong, China

RECRUITING

Guangzhou Psychiatric Hospital

Guangzhou, Guangdong, China

RECRUITING

Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University

Zhongshan, Guangdong, China

RECRUITING

First Affiliated Hospital of Guangxi Medical University

Nanning, Guangxi, China

RECRUITING

The Affiliated Hospital Of Guizhou Medical University

Guiyang, Guizhou, China

RECRUITING

Handan Central Hospital

Handan, Hebei, China

RECRUITING

First Hospital of Shijiazhuang City

Shijiazhuang, Hebei, China

RECRUITING

Tangshan Worker's Hospital

Tangshan, Hebei, China

RECRUITING

Hebei General Hospital

Zhijiazhuang, Hebei, China

RECRUITING

First Affiliated Hospital of Harbin Medical University

Haerbin, Heilongjiang, China

RECRUITING

Kaifeng Central Hospital

Kaifeng, Henan, China

RECRUITING

Henan Provincial People's Hospital

Zhengzhou, Henan, China

RECRUITING

People's Hospital of Zhengzhou

Zhengzhou, Henan, China

RECRUITING

People's Hospital Affiliated Hubei Medical University

Wuhan, Hubei, China

RECRUITING

Tongji Hospital

Wuhan, Hubei, China

RECRUITING

The Third Xiangya Hospital of Central South University

Wuhan, Hunan, China

RECRUITING

Wuhan University Zhongnan Hospital

Wuhan, Hunan, China

RECRUITING

Xiangya Hospital of Central South University

Wuhan, Hunan, China

RECRUITING

Nantong University Affiliated Hospital

Nantong, Jiangsu, China

RECRUITING

Subei People's Hospital of Jiangsu

Subei, Jiangsu, China

RECRUITING

Mineral General Hospital, Xuzhou

Xuzhou, Jiangsu, China

RECRUITING

Jiangxi Provincial People's Hospital

Nanchang, Jiangxi, China

RECRUITING

China-Japan friendship Hospital of Jilin university

Changchun, Jilin, China

RECRUITING

The First Hospital of Jilin University

Changchun, Jilin, China

RECRUITING

Changda Hospital, Anshan

Anshan, Liaoning, China

RECRUITING

Affiliated Zhongshan hospital of Dalian university

Dalian, Liaoning, China

RECRUITING

The First Affiliated Hospital of Dalian Medical University

Dalian, Liaoning, China

RECRUITING

First Hospital of China Medical University

Shenyang, Liaoning, China

RECRUITING

Baotou Central Hospital

Baotou, Nei Monggol, China

RECRUITING

General Hospital of Ningxia Medical University

Yinchuan, Ningxia, China

RECRUITING

The People's Hospital of Ningxia

Yinchuan, Ningxia, China

RECRUITING

Qilu Hospital of Shandong University

Jinan, Shandong, China

RECRUITING

Shandong Provincial Hospital

Jining, Shandong, China

RECRUITING

Qilu Hospital of Shandong University (Qingdao)

Qingdao, Shandong, China

RECRUITING

QingDao Municipal Hospital

Qingdao, Shandong, China

RECRUITING

The Affiliated Hospital of Qingdao University

Qingdao, Shandong, China

RECRUITING

The 88th Hospital of PLA

Tai’an, Shandong, China

RECRUITING

Shanghai Changzheng Hospital

Huangpu, Shanghai Municipality, China

RECRUITING

Ruijin Hospital

Luwan, Shanghai Municipality, China

RECRUITING

RenJi Hospital

Putong, Shanghai Municipality, China

RECRUITING

The First Affiliated Hospital of Shanxi Medical University

Taiyuan, Shanxi, China

RECRUITING

First Affiliated Hospital Xi'an Jiaotong University

Xi’an, Shanxi, China

RECRUITING

Tang-Du Hospital

Xi’an, Shanxi, China

RECRUITING

Affiliated Hospital of North Sichuan Medical College

Nanchong, Sichuan, China

RECRUITING

Zigong First People's Hospital

Zigong, Sichuan, China

RECRUITING

Tianjin Huanhu Hospital

Xianshuigu, Tianjin Municipality, China

RECRUITING

Tianjin Medical University General Hospital

Xiaobailou, Tianjin Municipality, China

RECRUITING

Traditional Chinese Medicine Hospital of Xinjiang Autonomous Region

Ürümqi, Xinjiang, China

RECRUITING

First Affiliated Hospital of Zhejiang University

Hangzhou, Zhejiang, China

RECRUITING

Shao Yifu Hospital of Zhejiang Medical University

Hangzhou, Zhejiang, China

RECRUITING

Zhejiang Provincial People's Hospital

Hangzhou, Zhejiang, China

RECRUITING

Ningbo City Medical Treatment Center Lihuili Hospital

Ningbo, Zhejiang, China

RECRUITING

First Affiliated Hospital of Wenzhou Medical Univeristy

Wenzhou, Zhejiang, China

RECRUITING

Related Publications (19)

  • Yang H, Hou T, Wang W, Luo Y, Yan F, Jia J. The Effect of Chronic Cerebral Hypoperfusion on Amyloid-beta Metabolism in a Transgenic Mouse Model of Alzheimer's Disease (PS1V97L). J Alzheimers Dis. 2018;62(4):1609-1621. doi: 10.3233/JAD-171094.

    PMID: 29614686RESULT

  • Hou TT, Yang HY, Wang W, Wu QQ, Tian YR, Jia JP. Sulforaphane Inhibits the Generation of Amyloid-beta Oligomer and Promotes Spatial Learning and Memory in Alzheimer's Disease (PS1V97L) Transgenic Mice. J Alzheimers Dis. 2018;62(4):1803-1813. doi: 10.3233/JAD-171110.

    PMID: 29614663RESULT

  • Wang Q, Jia J, Qin W, Wu L, Li D, Wang Q, Li H. A Novel AbetaPP M722K Mutation Affects Amyloid-beta Secretion and Tau Phosphorylation and May Cause Early-Onset Familial Alzheimer's Disease in Chinese Individuals. J Alzheimers Dis. 2015;47(1):157-65. doi: 10.3233/JAD-143231.

    PMID: 26402764RESULT

  • Jia J, Zuo X, Jia XF, Chu C, Wu L, Zhou A, Wei C, Tang Y, Li D, Qin W, Song H, Ma Q, Li J, Sun Y, Min B, Xue S, Xu E, Yuan Q, Wang M, Huang X, Fan C, Liu J, Ren Y, Jia Q, Wang Q, Jiao L, Xing Y, Wu X; China Cognition and Aging Study (China COAST) Group. Diagnosis and treatment of dementia in neurology outpatient departments of general hospitals in China. Alzheimers Dement. 2016 Apr;12(4):446-53. doi: 10.1016/j.jalz.2015.06.1892. Epub 2015 Aug 7.

    PMID: 26256457RESULT

  • Wang W, Lu L, Wu QQ, Jia JP. Brain Amyloid-beta Plays an Initiating Role in the Pathophysiological Process of the PS1V97L-Tg Mouse Model of Alzheimer's Disease. J Alzheimers Dis. 2016 Apr 12;52(3):1089-99. doi: 10.3233/JAD-160004.

    PMID: 27079718RESULT

  • Dong J, Qin W, Wei C, Tang Y, Wang Q, Jia J. A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-beta Production and Tau Phosphorylation. J Alzheimers Dis. 2017;57(2):613-623. doi: 10.3233/JAD-161188.

    PMID: 28269784RESULT

  • Zhang G, Xie Y, Wang W, Feng X, Jia J. Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease. J Neurol Sci. 2017 Jan 15;372:379-386. doi: 10.1016/j.jns.2016.10.039. Epub 2016 Oct 28.

    PMID: 27838006RESULT

  • Wang Y, Cheng Z, Qin W, Jia J. Val97Leu mutant presenilin-1 induces tau hyperphosphorylation and spatial memory deficit in mice and the underlying mechanisms. J Neurochem. 2012 Apr;121(1):135-45. doi: 10.1111/j.1471-4159.2011.07489.x. Epub 2012 Feb 10.

    PMID: 21929538RESULT

  • Qin W, Jia J. Down-regulation of insulin-degrading enzyme by presenilin 1 V97L mutant potentially underlies increased levels of amyloid beta 42. Eur J Neurosci. 2008 May;27(9):2425-32. doi: 10.1111/j.1460-9568.2008.06207.x.

    PMID: 18445230RESULT

  • Fang B, Jia L, Jia J. Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells. Neurosci Lett. 2006 Oct 2;406(1-2):33-7. doi: 10.1016/j.neulet.2006.06.072. Epub 2006 Aug 17.

    PMID: 16916581RESULT

  • Jia J, Xu E, Shao Y, Jia J, Sun Y, Li D. One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease. J Alzheimers Dis. 2005 Apr;7(2):119-24; discussion 173-80. doi: 10.3233/jad-2005-7204.

    PMID: 15851849RESULT

  • Jia L, Xu H, Chen S, Wang X, Yang J, Gong M, Wei C, Tang Y, Qu Q, Chu L, Shen L, Zhou C, Wang Q, Zhao T, Zhou A, Li Y, Li F, Li Y, Jin H, Qin Q, Jiao H, Li Y, Zhang H, Lyu D, Shi Y, Song Y, Jia J. The APOE epsilon4 exerts differential effects on familial and other subtypes of Alzheimer's disease. Alzheimers Dement. 2020 Dec;16(12):1613-1623. doi: 10.1002/alz.12153. Epub 2020 Sep 3.

    PMID: 32881347RESULT

  • Quan M, Zhao T, Tang Y, Luo P, Wang W, Qin Q, Li T, Wang Q, Fang J, Jia J. Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease. Alzheimers Res Ther. 2020 Jan 14;12(1):14. doi: 10.1186/s13195-019-0572-2.

    PMID: 31937364RESULT

  • Jia L, Fu Y, Shen L, Zhang H, Zhu M, Qiu Q, Wang Q, Yan X, Kong C, Hao J, Wei C, Tang Y, Qin W, Li Y, Wang F, Guo D, Zhou A, Zuo X, Yu Y, Li D, Zhao L, Jin H, Jia J. PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease. Alzheimers Dement. 2020 Jan;16(1):178-191. doi: 10.1002/alz.12005.

    PMID: 31914229RESULT

  • Qiu Q, Shen L, Jia L, Wang Q, Li F, Li Y, Jia J. A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Abeta42/Abeta40 ratio. J Alzheimers Dis. 2019;69(1):199-212. doi: 10.3233/JAD-181291.

    PMID: 30958370RESULT

  • Shen L, Qin W, Wu L, Zhou A, Tang Y, Wang Q, Jia L, Jia J. Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization. Biochem Biophys Res Commun. 2019 Aug 13;516(1):264-269. doi: 10.1016/j.bbrc.2019.05.185. Epub 2019 Jun 21.

    PMID: 31235249RESULT

  • Qiu Q, Jia L, Wang Q, Zhao L, Jin H, Li T, Quan M, Xu L, Li B, Li Y, Jia J. Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease. Neurobiol Aging. 2020 Jan;85:155.e1-155.e4. doi: 10.1016/j.neurobiolaging.2019.05.018. Epub 2019 May 31.

    PMID: 31235344RESULT

  • Li W, Pang Y, Wang Y, Mei F, Guo M, Wei Y, Li X, Qin W, Wang W, Jia L, Jia J. Aberrant palmitoylation caused by a ZDHHC21 mutation contributes to pathophysiology of Alzheimer's disease. BMC Med. 2023 Jun 26;21(1):223. doi: 10.1186/s12916-023-02930-7.

    PMID: 37365538RESULT

  • Quan M, Wang Q, Qin W, Wang W, Li F, Zhao T, Li T, Qiu Q, Cao S, Wang S, Wang Y, Jin H, Zhou A, Fang J, Jia L, Jia J. Shared and unique effects of ApoEepsilon4 and pathogenic gene mutation on cognition and imaging in preclinical familial Alzheimer's disease. Alzheimers Res Ther. 2023 Feb 28;15(1):40. doi: 10.1186/s13195-023-01192-y.

    PMID: 36850008RESULT

Related Links

Biospecimen

Retention: SAMPLES WITH DNA

Blood, cerebral spinal fluid, saliva, and urine

MeSH Terms

Conditions

Alzheimer Disease

Condition Hierarchy (Ancestors)

DementiaBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesTauopathiesNeurodegenerative DiseasesNeurocognitive DisordersMental Disorders

Study Officials

  • Jianping Jia, Doctor

    Xuanwu Hospital of Capital Medical University

    STUDY CHAIR

Central Study Contacts

Jianping Jia, Doctor

CONTACT

＋8610-83199449jiajp@vip.126.com

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
30 Years
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Chief Director

Study Record Dates

First Submitted

August 21, 2018

First Posted

September 5, 2018

Study Start

January 10, 2005

Primary Completion (Estimated)

January 1, 2038

Study Completion (Estimated)

January 1, 2038

Last Updated

March 23, 2026

Record last verified: 2026-03

Locations

CN(65)