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Features include: Parkinsonism, Progressive loss of mental abilities (dementia), Neurofibrillary tangles, and Decreased circulating GABA concentration and 2 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Parkinsonism, Progressive loss of mental abilities (dementia) |
APP encodes amyloid beta precursor protein (770 aa). Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Highest expression in Brain Frontal Cortex BA9 (561.1 TPM) and Thyroid (502.1 TPM).
Alzheimer disease type 1 is associated with mutations in the APP gene on chromosome 21.
APP is classified as a druggable target (Cell Surface, Druggable Genome, External Side Of Plasma Membrane, and Protease Inhibitor categories) with score 3.2.
Genetic testing for APP is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Alzheimer disease type 1 has been reported in the published literature.
5 clinical trials registered, 2 recruiting. Interventions under study include drug therapy, medical devices, other interventions, and procedural interventions. Pipeline includes 1 PHASE2, 1 EARLY_PHASE1, 2 NA. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT05469009](https://clinicaltrials.gov/study/NCT05469009) |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:32 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Alzheimer disease type 1
Safety and Feasibility of Exablate Blood-Brain Barrier Disruption for Mild Cognitive Impairment or Mild Alzheimer's Disease Undergoing Standard of Care Monoclonal Antibody (mAb) Therapy |
EARLY_PHASE1 |
Ali Rezai |
ACTIVE_NOT_RECRUITING |
[NCT06883019](https://clinicaltrials.gov/study/NCT06883019) | Lecanemab for Early Onset Familial Alzheimer's Disease | — | RenJi Hospital | RECRUITING |
[NCT05543681](https://clinicaltrials.gov/study/NCT05543681) | Clinical Trial on Agitation in Alzheimer's Dementia | PHASE2 | IGC Pharma, LLC | RECRUITING |
[NCT05637801](https://clinicaltrials.gov/study/NCT05637801) | A Pivotal Study of Sensory Stimulation in Alzheimer's Disease (HOPE Study) | NA | Cognito Therapeutics, Inc. | UNKNOWN |
[NCT06965062](https://clinicaltrials.gov/study/NCT06965062) | Cervical Lymphatico-Venous Bypass for Treatment of Alzheimer's Disease - Proof of Concept Study (CLyVeB-AD-1 Study) | NA | Vincent Tay Khwee Soon | UNKNOWN |
103 publications have been identified in PubMed for Alzheimer disease type 1. Research spans Review / Meta-Analysis (66%), Other (16%), and Basic Science / Preclinical (7%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 56 | 66% |
Other research | 14 | 16% |
Laboratory research | 6 | 7% |
New treatment approaches | 5 | 6% |
Disease patterns and progression | 2 | 2% |
Testing and diagnosis research | 1 | 1% |
Clinical study results | 1 | 1% |
Brendborg N (2026). [PMID: 40237393](https://pubmed.ncbi.nlm.nih.gov/40237393/). *J Physiol*. [Review / Meta-Analysis]
Soni U (2026). [PMID: 41796723](https://pubmed.ncbi.nlm.nih.gov/41796723/). *Prog Neuropsychopharmacol Biol Psychiatry*. [Review / Meta-Analysis]
Li Puma DD (2026). [PMID: 41975621](https://pubmed.ncbi.nlm.nih.gov/41975621/). *Neural Regen Res*. [Basic Science / Preclinical]
Brown GC (2026). [PMID: 41315858](https://pubmed.ncbi.nlm.nih.gov/41315858/). *Nat Rev Neurol*. [Review / Meta-Analysis]
Krzyzan O (2026). [PMID: 41750318](https://pubmed.ncbi.nlm.nih.gov/41750318/). *Biomolecules*. [Basic Science / Preclinical]
Das S (2026). [PMID: 40639927](https://pubmed.ncbi.nlm.nih.gov/40639927/). *Neurol Res*. [Review / Meta-Analysis]
D'Alessandro MCB (2025). [PMID: 40023293](https://pubmed.ncbi.nlm.nih.gov/40023293/). *Ageing Res Rev*. [Review / Meta-Analysis]
Hardy J (2025). [PMID: 40739944](https://pubmed.ncbi.nlm.nih.gov/40739944/). *J Neurochem*. [Review / Meta-Analysis]
Zheng Q (2025). [PMID: 38733347](https://pubmed.ncbi.nlm.nih.gov/38733347/). *Protein Cell*. [Review / Meta-Analysis]
Panneerselvam K (2025). [PMID: 40855644](https://pubmed.ncbi.nlm.nih.gov/40855644/). *Proteomics*. [Review / Meta-Analysis]