Proteostasis deficiencies

MONDO:0021179

Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins.

Also known as: Proteostasis deficiency, Proteostasis dysfunction, Proteostasis dysfunctions, deficiencies, Proteostasis, deficiency, Proteostasis, dysfunction, Proteostasis, dysfunctions, Proteostasis, Misfolding disease, Protein

561 clinical trials for this condition and its sub-types, 1 tagged with Proteostasis deficiencies itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Metabolic disease (7369) ↑ Disease by molecular mechanism (1832)

Sub-types of Proteostasis deficiencies

Amyloidosis 133 trials · 323 incl. sub-types
12 sub-types
- AL amyloidosis 93 trials · 99 incl. sub-types Sub-types →
- Wild type ATTR amyloidosis 95 trials
- Hereditary amyloidosis 19 trials · 79 incl. sub-types Sub-types →
- ABeta2M amyloidosis 0 trials · 34 incl. sub-types Sub-types →
- Primary cutaneous amyloidosis 4 trials · 5 incl. sub-types Sub-types →
- AA amyloidosis 2 trials
- Soft tissue amyloid neoplasm 1 trial
- AApoAIV amyloidosis 0 trials
- AH amyloidosis 0 trials
- ALECT2 amyloidosis 0 trials
- Amyloidosis bronchopulmonary 0 trials
- Immunoglobulin heavy-and-light chain 0 trials
Synucleinopathy 18 trials · 237 incl. sub-types
2 sub-types
- Lewy body dementia 130 trials
- Multiple system atrophy 110 trials · 119 incl. sub-types Sub-types →
TDP-43 proteinopathy 3 trials
SQSTM1-related multisystem proteinopathy 0 trials
3 sub-types
- Paget disease of bone 3 0 trials
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 0 trials
- Myopathy, distal, with rimmed vacuoles 0 trials

Most studied deeper sub-types

Familial amyloid neuropathy (52) Wild type ABeta2M amyloidosis (34) Primary systemic amyloidosis (22) Pure autonomic failure (18) Cerebral amyloid angiopathy (16) Multiple system atrophy, parkinsonian type (12) ATTRV122I amyloidosis (7) Alzheimer disease type 1 (4) ATTRV30M amyloidosis (4) Multiple system atrophy, cerebellar type (3) Lichen amyloidosis (2) ABeta amyloidosis, dutch type (1) ACys amyloidosis (1) Familial primary localized cutaneous amyloidosis (1) Macular amyloidosis (1) AApoAI amyloidosis (0) ABetaA21G amyloidosis (0) ABeta amyloidosis, Arctic type (0) ABeta amyloidosis, Iowa type (0) ABeta amyloidosis, Italian type (0)

Including sub-types (561) Tagged with Proteostasis deficiencies (1)

Not yet finished but already full! 1

Promising drug combo targets Hard-to-Treat amyloidosis

Disease control Ongoing

This study tests a combination of two drugs, venetoclax and dexamethasone, in people with a rare blood disorder called AL amyloidosis that has come back or not improved after treatment. The trial includes 53 adults with a specific genetic marker (t(11;14)). The goal is to find th…

Phase 1/2 • Sponsor: Columbia University • Aim: Disease control

Last updated Jul 12, 2026 00:00 UTC

Proteostasis deficiencies

Where it sits in the disease tree

Most studied deeper sub-types

Promising drug combo targets Hard-to-Treat amyloidosis