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

Plain English Summary

The Chinese Familial Alzheimer's Network is a Not Applicable clinical trial sponsored by Capital Medical University studying Alzheimer Disease, Familial Alzheimer Disease (FAD). This study aims to understand familial Alzheimer's disease (FAD) in China by collecting genetic, brain imaging, and cognitive data from families with a history of the disease. It is for individuals who have a family history of Alzheimer's disease, specifically those with at least two first-degree relatives diagnosed with the condition. Participation involves regular check-ups, cognitive tests, brain scans, and potentially lumbar punctures to collect samples, with follow-ups over several years. Currently, there are no specific treatments for FAD, but this study aims to improve understanding and diagnosis, which could lead to future treatments. The trial aims to enroll 40000 participants.

Official 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.

Who Can Participate

Here is what you need to know about eligibility for this trial. You may be eligible if you have at least two family members diagnosed with Alzheimer's disease, and at least three family members across three generations have the disease. Participants must be over 18 years old, have a family history of FAD-causing gene mutations (APP/PSEN1/PSEN2), and be able to provide reliable information. Individuals with cognitive impairment are eligible as long as they are not bedridden, and a healthy family member over the age of onset can also participate as a control. You cannot participate if you have dementia caused by other conditions, severe other medical illnesses, severe psychiatric illness, or if you have contraindications for MRI or lumbar puncture. This trial is studying Alzheimer Disease, Familial Alzheimer Disease (FAD), so participants generally need a confirmed diagnosis. The trial is currently accepting new participants.

What They're Measuring

The primary outcomes measure the frequency of specific gene mutations linked to familial Alzheimer's and how various biological markers change over time, which will help researchers understand how the The specific primary outcome measures are: The prevalence of gene mutations in familial Alzheimer's disease in China. (An Average of 1 year); The development patterns of genetic, biofluid, imaging, and neuropsychological markers of FAD. (An Average of 3 to 10 years). These endpoints are how researchers determine whether the treatment is effective and will form the basis of any future regulatory submissions.

About This Phase

This study does not have a traditional clinical phase designation. It may be an observational study that follows patients without intervening in their care, an expanded access or compassionate use program, or other non-interventional research. These studies contribute valuable data about disease progression, treatment patterns, and patient outcomes.

Why This Trial Matters

This trial is important because it seeks to build a comprehensive understanding of familial Alzheimer's disease in China, addressing a gap in knowledge that could lead to better diagnostic tools and f This research targets Alzheimer Disease, Familial Alzheimer Disease (FAD), where improved treatment options are needed.

Investor Insight

This observational study aims to build a large database of familial Alzheimer's disease in China, potentially identifying genetic markers and disease patterns that could inform future drug development The large enrollment target of 40000 participants suggests significant investment in this program.

Is This Trial Right for Me?

Ask your doctor about the specific FAD genes being studied and what the results of genetic testing might mean for you and your family. Be prepared for regular visits that may include cognitive assessments, brain imaging (MRI), and possibly blood draws or lumbar punctures. Understand that participation is long-term, with follow-up assessments planned over many years to track disease progression. This trial is currently recruiting participants. The trial is being conducted at 20 sites. Always discuss clinical trial participation with your healthcare provider before making any decisions. This information is for educational purposes only and is not medical advice.

AI-generated analysis for educational purposes only. This is not medical advice. Discuss clinical trial participation with your doctor. Data sourced from ClinicalTrials.gov.

Study Design

• Study Type: OBSERVATIONAL
• Enrollment: 40,000 participants

Primary Outcomes

• The prevalence of gene mutations in familial Alzheimer's disease in China. (An Average of 1 year)
• The development patterns of genetic, biofluid, imaging, and neuropsychological markers of FAD. (An Average of 3 to 10 years)

Secondary Outcomes

• 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)

Full 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 information;
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.

Trial Locations

• The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China
• Beijing Geriatric Hospital, Changping, Beijing Municipality, China
• Beijing Chao Yang Hospital, Chaoyang, Beijing Municipality, China
• China-Japan Friendship Hospital, Chaoyang, Beijing Municipality, China
• Dongfang Hospital Affiliated to Beijing University of Chinese Medicine, Fengtai, Beijing Municipality, China
• Chinese PLA General Hospital, Haidian, Beijing Municipality, China
• Fu Xing Hospital, Capital Medical University, Haidian, Beijing Municipality, China
• Peking University Third Hospital, Haidian, Beijing Municipality, China
• Peking Union Medical College Hospital, Xicheng, Beijing Municipality, China
• Peking University First Hospital, Xicheng, Beijing Municipality, China
• ...and 10 more locations

Frequently Asked Questions

Related Conditions

• Alzheimer Disease
• Familial Alzheimer Disease (FAD)
• Dementia
• Cognitive Impairment
• Neurodegenerative Diseases
• Genetics
• Neurology
• Geriatrics
• Biomarkers
• Clinical Research

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