The Chinese Familial Alzheimer’s Network

Brief Title

The Chinese Familial Alzheimer's Network

Official Title

A Multi-center Longitudinal Cohort Study of Familial Alzheimer's Disease in China

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. To set up a multi-center, nationwide FAD research network and database platform in China

        2. To clarify the epidemiological characteristics of FAD in China.

        3. To clarify the genetic characteristics of FAD in China.

        4. To clarify the clinical characteristics and disease development laws of FAD.

        5. To discover and verify the early diagnosis biomarkers of AD.

        6. To establish a genetic counseling model.

Detailed Description

      1. 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.

        2. 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.

        3. 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.

        4. 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.

        5. 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.

        6. 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 Type

Observational [Patient Registry]

Primary Outcome

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

Secondary Outcome

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


Alzheimer Disease

Study Arms / Comparison Groups

 Familial Alzheimer's disease group
Description:  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.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

January 10, 2005

Completion Date

January 1, 2038

Primary Completion Date

January 1, 2038

Eligibility Criteria

        Familial Alzheimer's disease group

        Inclusion criteria:

          1. Written informed consent obtained from the participant or a legal guardian prior to
             any study-related procedures;

          2. 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;

          3. At least one family member with normal cognitive function (the age should be greater
             than the average age of onset of the family);

          4. Pedigrees carrying FAD pathogenic genes (APP/PSEN1/PSEN2);

          5. People in this family >18 years old can be recruited;

          6. Participant is cognitively normal or demented but not reaching bedridden level;

          7. Participants are able to provide two reliable informants who can provide clinical

          8. Dementia is diagnosed according to the criteria described by the Diagnostic and
             Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-R );

          9. 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 ;

         10. The diagnosis of MCI is made according to Petersen criteria and the classification is
             according to the method of Lopez et al.

        Exclusion criteria:

          1. 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);

          2. MRI and laboratory tests do not support or rule out a diagnosis of AD;

          3. Severe circulatory, respiratory, urinary, digestive, hematopoietic diseases (such as
             unstable angina, uncontrollable asthma, active gastric bleeding) and cancer;

          4. Participant has severe psychiatric illness or severe dementia that would interfere in
             completing initial and follow-up clinical assessments;

          5. Participant has a history of alcoholism or drug abuse;

          6. Pregnant or lactating women;

          7. No reliable informant;

          8. 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);

          9. 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

        Inclusion criteria:

          1. Aged 18 (inclusive) or above;

          2. 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.

        Exclusion criteria:

          1. Subjects with abnormal MMSE or MoCA scores;

          2. Subjects with a history of cerebral infarction, traumatic brain injury or related
             manifestations in MRI;

          3. 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.);

          4. 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.);

          5. Mental and neurodevelopmental retardation;

          6. Suffering from a disease that cannot be combined with a cognitive examination;

          7. Contraindications to MRI;

          8. Refuse to draw blood;

          9. Refuse to sign the informed consent at baseline.




18 Years - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers


Jianping Jia, Doctor, +8610-83199449, [email protected]

Location Countries


Location Countries


Administrative Informations



Organization ID


Responsible Party

Principal Investigator

Study Sponsor

Capital Medical University


 Beijing Tiantan Hospital

Study Sponsor

Jianping Jia, Doctor, Study Chair, Xuanwu Hospital of Capital Medical University

Verification Date

May 2022