Alzheimer DiseaseCFANNCT03657732
The Chinese Familial Alzheimer's Network
An observational study of Alzheimer Disease and Familial Alzheimer Disease (FAD), run by Capital Medical University at 65 sites in China.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Alzheimer Disease, Familial Alzheimer Disease (FAD)
- How many people
- 40,000 participants
- Where
- 65 sitesChina
- Study dates
- 10 Jan 2005to 1 Jan 2038
- How long will I take part?
- 30 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 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients with family histroy of Alzheimer's disease, characterised with at least two first-degree relatives.
Who may be able to join
- 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;
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- 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.
- 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.
Who cannot join
- 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；
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- No reliable informant；
- Lumbar puncture exclusion criteria：coagulation disorders or platelet counts < 100,000 cells/μL, lumbar surgery within the last 6 months prior to lumbar puncture that interferes with anatomy of the inter-vertebral spaces, History of chronic or repeated CSF leakage following previous LP(s);
- MRI Exclusion Criteria: electronic and magnetic metal implants such as pacemakers, artificial heart valve, metal prosthesis, metal joint, etc.; metallic foreign body in the eye; aneurysm clips in the brain.
- Normal control group
- 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;
- Suffering from a disease that cannot be combined with a cognitive examination;
- Contraindications to MRI;
- Refuse to draw blood;
- Refuse to sign the informed consent at baseline.
Trial locations and contacts
65 sites in 1 country. Contact the study team or a site near you to ask about taking part.
65 sites in 1 country
China65 sites, 65 recruiting
- Recruiting
Changda Hospital, Anshan
Anshan, Liaoning
Xiu Han, Doctor, ashanxj@163.com
- Recruiting
Baotou Central Hospital
Baotou, Nei Monggol
Furu Liang, Doctor, ru_liang@sina.com
- Recruiting
China-Japan friendship Hospital of Jilin university
Changchun, Jilin
Qin Zhao, Doctor, 1292860277@qq.com
- Recruiting
The First Hospital of Jilin University
Changchun, Jilin
Li Sun, Doctor, sjnksunli@163.com
- Recruiting
Beijing Geriatric Hospital
Changping, Beijing Municipality
Jihui Lv, lvjihui@139.com
- Recruiting
Beijing Chao Yang Hospital
Chaoyang, Beijing Municipality
Yue Wang, Doctor, wyjoe2000@163.com
- Recruiting
China-Japan Friendship Hospital
Chaoyang, Beijing Municipality
Dantao Peng, pengdantao@medmail.com.cn
- Recruiting
Affiliated Zhongshan hospital of Dalian university
Dalian, Liaoning
Qiang Ma, Doctor, 13332258950@163.com
- Recruiting
The First Affiliated Hospital of Dalian Medical University
Dalian, Liaoning
Cui Wang, Doctor, wangc817@163.com
- Recruiting
Dongfang Hospital Affiliated to Beijing University of Chinese Medicine
Fengtai, Beijing Municipality
Lanxiang Jin, Doctor, jxlan2001@126.com
- Recruiting
Fujian Medical University Union Hospital
Fujian, Guangdong
Qinyong Ye, unionqyye@163.com
- Recruiting
Guangzhou Psychiatric Hospital
Guangzhou, Guangdong
Mouni Tang, Doctor, munitang@163.com
- Recruiting
The Affiliated Hospital Of Guizhou Medical University
Guiyang, Guizhou
Lan Chu, Doctor, chulan8999@sohu.com
- Recruiting
First Affiliated Hospital of Harbin Medical University
Haerbin, Heilongjiang
Shurong Duan, Doctor, duanshurongsj@163.com
- Recruiting
Chinese PLA General Hospital
Haidian, Beijing Municipality
Jianjun Jia, Doctor, jiajianjun301@126.com
- Recruiting
Fu Xing Hospital, Capital Medical University
Haidian, Beijing Municipality
Fang Li, Doctor, lifangwa@sina.com
- Recruiting
Peking University Third Hospital
Haidian, Beijing Municipality
Weizhong Xiao, weizhongx@sina.com
- Recruiting
Handan Central Hospital
Handan, Hebei
Minchen Kan, Doctor, 623090112@qq.com
- Recruiting
First Affiliated Hospital of Zhejiang University
Hangzhou, Zhejiang
Benyan Luo, Doctor, luobenyan@zju.edu.cn
- Recruiting
Shao Yifu Hospital of Zhejiang Medical University
Hangzhou, Zhejiang
Peilin Lu, Doctor, lplzxa@163.com
- Recruiting
Zhejiang Provincial People's Hospital
Hangzhou, Zhejiang
Enyan Yu, yuenyan@aliyun.com
- Recruiting
The First Affiliated Hospital of Anhui Medical University
Hefei, Anhui
Yanghua Tian, Doctor, ayfytyh@126.com
- Recruiting
Shanghai Changzheng Hospital
Huangpu, Shanghai Municipality
Jianhua Zhuang, Doctor, jianhuazh11@126.com
- Recruiting
Qilu Hospital of Shandong University
Jinan, Shandong
Peiyan Shan, Doctor, Shanpy57@163.com
- Recruiting
Shandong Provincial Hospital
Jining, Shandong
Yifeng Du, Doctor, duyifeng2013@163.com
- Recruiting
Kaifeng Central Hospital
Kaifeng, Henan
Huanrong Yu, Doctor, yrh0656@126.com
- Recruiting
Ruijin Hospital
Luwan, Shanghai Municipality
Gang Wang, Doctor, wgneuron@hotmail.com
- Recruiting
Jiangxi Provincial People's Hospital
Nanchang, Jiangxi
Kunnan Zhang, Doctor, zkn8@163.com
- Recruiting
Affiliated Hospital of North Sichuan Medical College
Nanchong, Sichuan
Ying Ma, Doctor, yingma1314@126.com
- Recruiting
First Affiliated Hospital of Guangxi Medical University
Nanning, Guangxi
Shengliang Liang, ssl_1964@163.com
- Recruiting
Nantong University Affiliated Hospital
Nantong, Jiangsu
Maohong Cao, Doctor, yty5532917@163.com
- Recruiting
Ningbo City Medical Treatment Center Lihuili Hospital
Ningbo, Zhejiang
Guomin Xie, Doctor, drxie01@qq.com
- Recruiting
RenJi Hospital
Putong, Shanghai Municipality
Qun Xu, Doctor, xuqun628@163.com
- Recruiting
Qilu Hospital of Shandong University (Qingdao)
Qingdao, Shandong
Bin Liang, Doctor, bingliangbin@163.com
- Recruiting
QingDao Municipal Hospital
Qingdao, Shandong
Lan Tan, Doctor, dr.tanlan@163.com
- Recruiting
The Affiliated Hospital of Qingdao University
Qingdao, Shandong
Jinping Sun, Doctor, sunjinping@sina.com
- Recruiting
First Hospital of China Medical University
Shenyang, Liaoning
Yunpeng Cao, Doctor, cypcmu@163.com
- Recruiting
First Hospital of Shijiazhuang City
Shijiazhuang, Hebei
Huiying Zhao, 13323119938@163.com
- Recruiting
Subei People's Hospital of Jiangsu
Subei, Jiangsu
Jun Xu, Doctor, 13611572068@126.com
- Recruiting
The 88th Hospital of PLA
Tai’an, Shandong
Jintao Zhang, Doctor, zjtdoctor@126.com
- Recruiting
The First Affiliated Hospital of Shanxi Medical University
Taiyuan, Shanxi
Yuling Tian, Doctor, tylzcy2018@163.com
- Recruiting
Tangshan Worker's Hospital
Tangshan, Hebei
Yongqiu Li, Doctor, yongqiuli@126.com
- Recruiting
Traditional Chinese Medicine Hospital of Xinjiang Autonomous Region
Ürümqi, Xinjiang
Xinling Meng, altmxl@126.com
- Recruiting
First Affiliated Hospital of Wenzhou Medical Univeristy
Wenzhou, Zhejiang
Zhen Wang, Jane.wz@163.com
- Recruiting
People's Hospital Affiliated Hubei Medical University
Wuhan, Hubei
Jianjun Zhang, Doctor, xsssm@sina.cn
- Recruiting
Tongji Hospital
Wuhan, Hubei
Min Zhang, 4082410998@qq.com
- Recruiting
The Third Xiangya Hospital of Central South University
Wuhan, Hunan
Lu Shen, shenlu2505@126.com
- Recruiting
Wuhan University Zhongnan Hospital
Wuhan, Hunan
Hanxing Liu, hanxing_liu@whu.Ed.cn
- Recruiting
Xiangya Hospital of Central South University
Wuhan, Hunan
Qiuyun Tu, Doctor, qiuyuntu@126.com
- Recruiting
First Affiliated Hospital Xi'an Jiaotong University
Xi’an, Shanxi
Qiumin Qu, Doctor, quqiumin@medmail.com.cn
- Recruiting
Tang-Du Hospital
Xi’an, Shanxi
Wei Zhang, Doctor, zw711711@hotmail.com
- Recruiting
Tianjin Huanhu Hospital
Xianshuigu, Tianjin Municipality
Yuying Zhou, Doctor, Qiying789@sina.cn
- Recruiting
Tianjin Medical University General Hospital
Xiaobailou, Tianjin Municipality
Nan Zhang, Doctor, nkzhangnan@163.com
- Recruiting
Peking Union Medical College Hospital
Xicheng, Beijing Municipality
Jing Gao, Doctor, gj107@163.com
- Recruiting
Peking University First Hospital
Xicheng, Beijing Municipality
Zhirong Jia, jiazhirong@163.com
- Recruiting
Mineral General Hospital, Xuzhou
Xuzhou, Jiangsu
Liangqun Rong, Doctor, rongliangqun@163.com
- Recruiting
General Hospital of Ningxia Medical University
Yinchuan, Ningxia
Qin Zhang, Doctor, nxzhangqing@aliyun.com
- Recruiting
The People's Hospital of Ningxia
Yinchuan, Ningxia
Yongying Gao, Doctor, 18169110878@163.com
- Recruiting
Daping Hospital and the Research Institute of Surgery of the Third Military Medical University
Yuzhong, Chongqing Municipality
Yanjiang Wang
Yingying Shen, 123473534@qq.com
- Recruiting
The Second Affiliated Hospital of Chongqing Medical University
Yuzhong, Chongqing Municipality
Yangmei Chen, chenym1997@tom.com
- Recruiting
Henan Provincial People's Hospital
Zhengzhou, Henan
Jiewen Zhang, Doctor, zhangjiewen9900@126.com
- Recruiting
People's Hospital of Zhengzhou
Zhengzhou, Henan
Shuling Zhang, Doctor
Bin Zhang, Zyuanyuan1121@163.com
- Recruiting
Hebei General Hospital
Zhijiazhuang, Hebei
Peiyuan Lv, Doctor, peiyuanlu@163.com
- Recruiting
Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University
Zhongshan, Guangdong
Jun Liu, Doctor, docliujun@126.com
- Recruiting
Zigong First People's Hospital
Zigong, Sichuan
Xiaoya Xu, Doctor, 502687651@qq.com
About this study
Official title: A Multi-center Longitudinal Cohort Study of Familial Alzheimer's Disease in China
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.
- To set up a multi-center, nationwide FAD research network and database platform in China
- To clarify the epidemiological characteristics of FAD in China.
- To clarify the genetic characteristics of FAD in China.
- To clarify the clinical characteristics and disease development laws of FAD.
- To discover and verify the early diagnosis biomarkers of AD.
- To establish a genetic counseling model.
Read the detailed description
- The network and database include ADAD cohort of the known mutations of PSEN1, PSEN2 and APP (mutation carriers and noncarriers; pre-symptomatic and symptomatic) and unknown mutations cohort.
- Conduct a comprehensive FAD epidemiological survey in China to clarify the impact of different nationalities, regions, gender, age, living environment (rural/urban), education level, etc. on the occurrence and development of the disease.
- This project is to discover new FAD mutation sites，pathogenic genes, to protective genes, to explore the pathogenic and protective mechanism, to analyze the disease development laws of families with different sizes of FAD in China, and to clarify the frequency distribution of mutant genes in the Chinese FAD population.
- The project will collect and regularly follow-up the samples (blood, urine and saliva etc.) and data (neuropsychology, imaging etc.) in the cohort. Emphasis is placed on the occurrence and development of asymptomatic mutant gene carriers from asymptomatic to symptomatic periods.
- In the FAD family cohort, we will screen high-sensitivity and high-specificity body fluid markers suitable for Chinese people, verify in the SAD cohort, and establish a prediction model of body fluid markers for AD occurrence and disease progression; use structural MRI, dual tracer 18F-FDG PET and 11C-PIB PET multimodal imaging technology, dynamically monitor the dynamic evolution of imaging biomarkers such as brain structure, glucose metabolism and Aβ deposition at various stages of AD progression.
- We will combine with the genetic characteristics of Chinese FAD to analyze the impact of lifestyle, physical exercise, nootropic drugs, cognitive training, etc. on the disease progression of FAD patients or asymptomatic mutant gene carriers, to establish a genetic counseling model.
- Keywords
- Alzheimer's Disease
- Medical subject headings
- Alzheimer Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Changes of neuropsychological function measured by neuropsychological assessment battery.
Measured: 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.
Changes of structure of the whole brain, hippocampus other brain structures measured by MRI.
Measured: 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.
Changes of glucose metabolism of the whole brain, hippocampus and other brain structures as measured by 18F-fluorodeoxyglucose (FDG)-positron emission tomography (PET).
Measured: 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.
Changes of amyloid deposition of the whole brain, hippocampus and other brain structures as measured by amyloid PET.
Measured: 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.
Changes of tau deposition of the whole brain, hippocampus and other brain structures as measured by tau PET.
Measured: An Average of 1 year
Changes of humoral biomarkers in pedigree members at different stage of cognitive impairment in familial Alzheimer's disease in China.
Humoral biomarkers are included Aβ42, Aβ40, phosphated tau and total tau in plasma, cerebrospinal fluid, saliva, and urine.
Measured: Each biomarker with time frame of average 1 year
The effective non-pharmacologic treatment(NPT) intervention
The effective non-pharmacologic treatment(NPT) intervention- including lifestyle(diet and sleep habits, smoking, drinking and social networking), health products, exercise habits, cognitive training, risk factor control- on APOE ε4 carriers, MCI and dementia patients using questionnaire.
Measured: An Average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Sep 2018
- Study start10 Jan 2005
- Primary completion1 Jan 2038 (estimated)
- Study completion1 Jan 2038 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (19)Papers the sponsor has linked to this study.
- Other trials for Alzheimer DiseaseStudies of the same condition, open and under way.
- More trials run by Capital Medical UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
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
- 40,000 participants (estimated)
- Target duration
- 30 Years
Sponsor and investigators
- Lead sponsor
- Capital Medical University
- Sponsor type
- University, hospital or other
- Collaborators
- Beijing Tiantan Hospital, Beijing Chao Yang Hospital, Fu Xing Hospital, Capital Medical University, Peking Union Medical College Hospital, Peking University First Hospital, Peking University Third Hospital, Chinese PLA General Hospital, China-Japan Friendship Hospital, Beijing Geriatric Hospital, The First Affiliated Hospital of Dalian Medical University, Fujian Medical University Union Hospital, Guangzhou Psychiatric Hospital, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, First Affiliated Hospital of Guangxi Medical University, The Affiliated Hospital Of Guizhou Medical University, Handan Central Hospital, Hebei General Hospital, First Hospital of Shijiazhuang City, Tangshan Worker's Hospital, Henan Provincial People's Hospital, Kaifeng Central Hospital, People's Hospital of Zhengzhou University, First Affiliated Hospital of Harbin Medical University, Tongji Hospital, People's Hospital Affiliated Hubei Medical University, Zhongnan Hospital, The Third Xiangya Hospital of Central South University, Xiangya Hospital of Central South University, The First Hospital of Jilin University, China-Japan Union Hospital, Jilin University, Subei People's Hospital of Jiangsu, Nantong University Affiliated Hospital, Mineral General Hospital, Xuzhou, Jiangxi Provincial People's Hopital, Anshan Central Hospital, Affiliated Zhongshan Hospital of Dalian University, First Hospital of China Medical University, Baotou Central Hospital, General Hospital of Ningxia Medical University, The People's Hospital of Ningxia, The Affiliated Hospital of Qingdao University, The 960th Hospital of PLA, Qilu Hospital of Shandong University, Qilu Hospital of Shandong University (Qingdao), Shandong Provincial Hospital, Qingdao Municipal Hospital, The First Affiliated Hospital of Shanxi Medical University, Tang-Du Hospital, First Affiliated Hospital Xi'an Jiaotong University, Ruijin Hospital, RenJi Hospital, Shanghai Changzheng Hospital, Affiliated Hospital of North Sichuan Medical College, Tianjin Huanhu Hospital, Tianjin Medical University General Hospital, Traditional Chinese Medicine Hospital of Xinjiang Autonomous Region, Ningbo Medical Center Lihuili Hospital, First Affiliated Hospital of Wenzhou Medical University, First Affiliated Hospital of Zhejiang University, Shao Yifu Hospital of Zhejiang Medical University, Zhejiang Provincial People's Hospital, Daping Hospital and the Research Institute of Surgery of the Third Military Medical University, The Second Affiliated Hospital of Chongqing Medical University, The First Affiliated Hospital of Anhui Medical University, People's Hospital of Chongqing, Dongfang Hospital Beijing University of Chinese Medicine, Zigong No.1 Peoples Hospital
- Responsible party
- Principal investigator, Jianping Jia, Capital Medical University
- Investigators
- Jianping Jia, Doctor, Study chair, Xuanwu Hospital of Capital Medical University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03657732
- Sponsor's protocol ID
- SYXWJ002
- Acronym
- CFAN
- Status last verified
- Mar 2026
- First submitted
- 21 Aug 2018
- Last updated
- 23 Mar 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 29614686Hou 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.
PubMed 29614663Wang 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.
PubMed 26402764Jia 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.
PubMed 26256457Wang 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.
PubMed 27079718Dong 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.
PubMed 28269784Zhang 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.
PubMed 27838006Wang 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.
PubMed 21929538Qin 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.
PubMed 18445230Fang 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.
PubMed 16916581Jia 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.
PubMed 15851849Jia 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.
PubMed 32881347Quan 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.
PubMed 31937364Jia 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.
PubMed 31914229Qiu 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.
PubMed 30958370
Study at a glance
From the registry record, last updated by the sponsor on 23 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multi-center Longitudinal Cohort Study of Familial Alzheimer's Disease in China
- ClinicalTrials.gov ID
- NCT03657732
- Acronym / sponsor ID
- CFAN / SYXWJ002
- Keywords
- Alzheimer's Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40,000 participants (estimated)
- Lead sponsor
- Capital Medical UniversityUniversity, hospital or other
- Collaborators
- Beijing Tiantan Hospital, Beijing Chao Yang Hospital, Fu Xing Hospital, Capital Medical University, Peking Union Medical College Hospital, Peking University First Hospital, Peking University Third Hospital, Chinese PLA General Hospital, China-Japan Friendship Hospital, Beijing Geriatric Hospital, The First Affiliated Hospital of Dalian Medical University, Fujian Medical University Union Hospital, Guangzhou Psychiatric Hospital, Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University, First Affiliated Hospital of Guangxi Medical University, The Affiliated Hospital Of Guizhou Medical University, Handan Central Hospital, Hebei General Hospital, First Hospital of Shijiazhuang City, Tangshan Worker's Hospital, Henan Provincial People's Hospital, Kaifeng Central Hospital, People's Hospital of Zhengzhou University, First Affiliated Hospital of Harbin Medical University, Tongji Hospital, People's Hospital Affiliated Hubei Medical University, Zhongnan Hospital, The Third Xiangya Hospital of Central South University, Xiangya Hospital of Central South University, The First Hospital of Jilin University, China-Japan Union Hospital, Jilin University, Subei People's Hospital of Jiangsu, Nantong University Affiliated Hospital, Mineral General Hospital, Xuzhou, Jiangxi Provincial People's Hopital, Anshan Central Hospital, Affiliated Zhongshan Hospital of Dalian University, First Hospital of China Medical University, Baotou Central Hospital, General Hospital of Ningxia Medical University, The People's Hospital of Ningxia, The Affiliated Hospital of Qingdao University, The 960th Hospital of PLA, Qilu Hospital of Shandong University, Qilu Hospital of Shandong University (Qingdao), Shandong Provincial Hospital, Qingdao Municipal Hospital, The First Affiliated Hospital of Shanxi Medical University, Tang-Du Hospital, First Affiliated Hospital Xi'an Jiaotong University, Ruijin Hospital, RenJi Hospital, Shanghai Changzheng Hospital, Affiliated Hospital of North Sichuan Medical College, Tianjin Huanhu Hospital, Tianjin Medical University General Hospital, Traditional Chinese Medicine Hospital of Xinjiang Autonomous Region, Ningbo Medical Center Lihuili Hospital, First Affiliated Hospital of Wenzhou Medical University, First Affiliated Hospital of Zhejiang University, Shao Yifu Hospital of Zhejiang Medical University, Zhejiang Provincial People's Hospital, Daping Hospital and the Research Institute of Surgery of the Third Military Medical University, The Second Affiliated Hospital of Chongqing Medical University, The First Affiliated Hospital of Anhui Medical University, People's Hospital of Chongqing, Dongfang Hospital Beijing University of Chinese Medicine, Zigong No.1 Peoples Hospital
- Study start
- 10 Jan 2005 (actual)
- Primary completion
- 1 Jan 2038 (estimated)
- Study completion
- 1 Jan 2038 (estimated)
- First posted
- 5 Sep 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
- To set up a multi-center, nationwide FAD research network and database platform in China
- To clarify the epidemiological characteristics of FAD in China.
- To clarify the genetic characteristics of FAD in China.
- To clarify the clinical characteristics and disease development laws of FAD.
- To discover and verify the early diagnosis biomarkers of AD.
- To establish a genetic counseling model.
Detailed description
- The network and database include ADAD cohort of the known mutations of PSEN1, PSEN2 and APP (mutation carriers and noncarriers; pre-symptomatic and symptomatic) and unknown mutations cohort.
- Conduct a comprehensive FAD epidemiological survey in China to clarify the impact of different nationalities, regions, gender, age, living environment (rural/urban), education level, etc. on the occurrence and development of the disease.
- This project is to discover new FAD mutation sites，pathogenic genes, to protective genes, to explore the pathogenic and protective mechanism, to analyze the disease development laws of families with different sizes of FAD in China, and to clarify the frequency distribution of mutant genes in the Chinese FAD population.
- The project will collect and regularly follow-up the samples (blood, urine and saliva etc.) and data (neuropsychology, imaging etc.) in the cohort. Emphasis is placed on the occurrence and development of asymptomatic mutant gene carriers from asymptomatic to symptomatic periods.
- In the FAD family cohort, we will screen high-sensitivity and high-specificity body fluid markers suitable for Chinese people, verify in the SAD cohort, and establish a prediction model of body fluid markers for AD occurrence and disease progression; use structural MRI, dual tracer 18F-FDG PET and 11C-PIB PET multimodal imaging technology, dynamically monitor the dynamic evolution of imaging biomarkers such as brain structure, glucose metabolism and Aβ deposition at various stages of AD progression.
- We will combine with the genetic characteristics of Chinese FAD to analyze the impact of lifestyle, physical exercise, nootropic drugs, cognitive training, etc. on the disease progression of FAD patients or asymptomatic mutant gene carriers, to establish a genetic counseling model.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 30 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with family histroy of Alzheimer's disease, characterised with at least two first-degree relatives.
Key inclusion criteria (12 listed)
- 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;
Key exclusion criteria (19 listed)
- 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；
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
The prevalence of gene mutations in familial Alzheimer's disease in China.
Time frame: An Average of 1 year
Gene analysis of known mutations (PSEN1, PSEN2 and APP), apolipoprotein E (APOE) genotype and unknown mutations in familial Alzheimer's disease patients.
The development patterns of genetic, biofluid, imaging, and neuropsychological markers of FAD.
Time frame: An Average of 3 to 10 years
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.
7 secondary outcomes
Changes of neuropsychological function in pedigree members at different stage of cognitive impairment in familial Alzheimer's disease in China.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: 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.
Time frame: An Average of 1 year
Changes of humoral biomarkers in pedigree members at different stage of cognitive impairment in familial Alzheimer's disease in China.
Time frame: Each biomarker with time frame of average 1 year
The effective non-pharmacologic treatment(NPT) intervention
Time frame: An Average of 1 year
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Mar 2026.
- Results publication: PubMed 29614686Yang 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.
- Results publication: PubMed 29614663Hou 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.
- Results publication: PubMed 26402764Wang 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.
- Results publication: PubMed 26256457Jia 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.
- Results publication: PubMed 27079718Wang 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.
- Results publication: PubMed 28269784Dong 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.
- Results publication: PubMed 27838006Zhang 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.
- Results publication: PubMed 21929538Wang 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.
- Results publication: PubMed 18445230Qin 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.
- Results publication: PubMed 16916581Fang 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.
- Results publication: PubMed 15851849Jia 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.
- Results publication: PubMed 32881347Jia 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.
- CFAN WebsiteLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Jianping Jia, Doctor study chair
Xuanwu Hospital of Capital Medical University
65 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Alzheimer Disease and Familial Alzheimer Disease (FAD), run by Capital Medical University at 65 sites 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 12 inclusion and 19 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: looking for participants now, as of the sponsor's last update on 23 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 65 sites 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?
Contact Jianping Jia, Doctor (＋8610-83199449, jiajp@vip.126.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The prevalence of gene mutations in familial Alzheimer's disease in China. (time frame: An Average of 1 year). The study lists 2 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 NCT03657732, which also lists 19 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 23 Mar 2026.