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Last update 08 May 2025

Ehlers-Danlos Syndrome, Progeroid Form

Last update 08 May 2025

Basic Info

Synonyms

DERMATAN SULFATE PROTEOGLYCAN, Defective biosynthesis of proteodermatan sulfate, Defective biosynthesis of proteodermatan sulphate

+ [19]

Introduction

A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars.

Drugs associated with Ehlers-Danlos Syndrome, Progeroid Form

Pagoclone

Target

GABAA receptor

Mechanism

GABAA receptor agonists

Active Org.-

Originator Org.

Teva Pharmaceutical Industries Ltd.

Active Indication-

Inactive Indication

Anxiety Disorders [+4]

Drug Highest PhaseDiscontinued

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Ehlers-Danlos Syndrome, Progeroid Form

NCT06193278

/ RecruitingNot ApplicableIIT

Personalized Neuromodulation Treatment for Parkinson's Syndrome

Parkinsonian Syndromes (PDS) with predominant motor dysfunction include progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and corticobasal degeneration (CBD). Current treatment options for PDS are extremely limited due to the less understanding of disease pathophysiology and lack of therapeutic targets. Combining the results of previous studies and our group's previous research, sixty qualified PDS patients would be enrolled to conduct a prospective single-center randomized sham controlled clinical trial to verify the new therapeutic options that can improve symptoms and effectively slow the progression of the disease.

Start Date01 Sep 2023

Sponsor / Collaborator-

NCT05832528

/ RecruitingNot ApplicableIIT

The Effect of a Low FODMAP Diet in Functional Dyspepsia Patients With Meal Related Symptoms on Complaint Pattern and Urinary Histamine Excretion

The goal of this dietary intervention study is to assess the efficacy and mechanisms of a low-FODMAP (fermentable oligosaccharides, disaccharides, monosaccharides and polyols) diet in functional dyspepsia patients. The main questions it aims to answer are:
* If a low-FODMAP diet can reduce dyspeptic complaints
* How a low-FODMAP diet can reduce dyspeptic complaints in functional dyspepsia (FD).
Participants will follow a 6-week during low-FODMAP diet followed by powder reintroduction of 6 FODMAPs and 1 control substance.

Start Date03 Oct 2022

Sponsor / Collaborator-

NL-OMON26546

/ SuspendedNot ApplicableIIT

Compassion-focused therapy for self-criticism

Start Date05 Jan 2020

Sponsor / Collaborator-

100 Clinical Results associated with Ehlers-Danlos Syndrome, Progeroid Form

100 Translational Medicine associated with Ehlers-Danlos Syndrome, Progeroid Form

0 Patents (Medical) associated with Ehlers-Danlos Syndrome, Progeroid Form

Literatures (Medical) associated with Ehlers-Danlos Syndrome, Progeroid Form

01 Jul 2023·Actas Dermo-Sifiliográficas

[Translated article] Lymphovascular Invasion and High Mitotic Count Are Associated With Increased Risk of Recurrence in Pleomorphic Dermal Sarcoma

Article

Author: Sanmartín, O ; Mata Cano, D ; Serra-Guillén, C ; Aguerralde, M ; Monteagudo, C ; Nagore, E ; Pons Benavent, M ; Pinazo Canales, I ; Requena, C ; Llombart, B ; Ríos-Viñuela, E

BACKGROUND AND OBJECTIVEAtypical fibroxanthoma and pleomorphic dermal sarcoma (PDS) are rare mesenchymal tumors. Due to the low incidence of PDS and a historically confusing nomenclature, little is known about the true aggressiveness of this tumor. The aim of this study was to investigate clinical and histologic risk factors for recurrence in PDS.MATERIAL AND METHODSRetrospective, observational, bicentric study of 31 PDSs diagnosed and treated at Hospital Clínico Universitario de Valencia and Instituto Valenciano de Oncología in Valencia, Spain, between 2005 and 2020. We described the clinical and histologic features of these tumors and performed univariate analysis and multivariate Cox regression analysis.RESULTSIn the univariate analysis, tumor recurrence (P<.001), necrosis (P=.020), lymphovascular invasion (P=.037), perineural invasion (P=.041), and mitotic count (<18 vs ≥18 mitoses per 10 high-power fields) (P=.093) were associated with worse disease-free survival. In the multivariate Cox regression analysis, mitotic count and lymphovascular invasion retained their significance as predictors of worse disease-free survival (P<.05).CONCLUSIONSPDS is an aggressive tumor in which a high mitotic count (≥18) and lymphovascular invasion are associated with a higher risk of recurrence and worse disease-free survival. Necrosis and perineural invasion are also probably linked to increased tumor aggressiveness.

01 Jul 2023·International journal of molecular sciences

Of the Mechanisms of Paroxysmal Depolarization Shifts: Generation and Maintenance of Bicuculline-Induced Paroxysmal Activity in Rat Hippocampal Cell Cultures.

Article

Author: Gaidin, Sergei G ; Laryushkin, Denis P ; Mal'tseva, Valentina N ; Zinchenko, Valery P ; Maiorov, Sergei A ; Kosenkov, Artem M

Abnormal depolarization of neuronal membranes called paroxysmal depolarization shift (PDS) represents a cellular correlate of interictal spikes. The mechanisms underlying the generation of PDSs or PDS clusters remain obscure. This study aimed to investigate the role of ionotropic glutamate receptors (iGluRs) in the generation of PDS and dependence of the PDS pattern on neuronal membrane potential. We have shown that significant depolarization or hyperpolarization (by more than ±50 mV) of a single neuron does not change the number of individual PDSs in the cluster, indicating the involvement of an external stimulus in PDS induction. Based on this data, we have suggested reliable protocols for stimulating single PDS or PDS clusters. Furthermore, we have found that AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid) receptors are necessary for PDS generation since AMPAR antagonist NBQX completely suppresses bicuculline-induced paroxysmal activity. In turn, antagonists of NMDA (N-methyl-D-aspartate) and kainate receptors (D-AP5 and UBP310, respectively) caused a decrease in the amplitude of the first action potential in PDSs and in the amplitude of the oscillations of intracellular Ca²⁺ concentration occurring alongside the PDS cluster generation. The effects of the NMDAR (NMDA receptor) and KAR (kainate receptor) antagonists indicate that these receptors are involved only in the modulation of paroxysmal activity. We have also shown that agonists of some G_i-coupled receptors, such as A₁ adenosine (A₁Rs) or cannabinoid receptors (CBRs) (N₆-cyclohexyladenosine and WIN 55,212-2, respectively), completely suppressed PDS generation, while the A₁R agonist even prevented it. We hypothesized that the dynamics of extracellular glutamate concentration govern paroxysmal activity. Fine-tuning of neuronal activity via action on G_i-coupled receptors or iGluRs paves the way for the development of new approaches for epilepsy pharmacotherapy.

01 May 2023·JDDG: Journal der Deutschen Dermatologischen Gesellschaft

Atypical fibroxanthoma and pleomorphic dermal sarcoma – gene expression analysis compared with undifferentiated cutaneous squamous cell carcinoma

Article

Author: Kämpf, Christoph ; Schimmelpfennig, Carolin ; Ziemer, Mirjana ; Wiedemann, Karolin ; Blumert, Conny ; Anderegg, Ulf ; Anders, Iris Marie ; Löffler, Dennis ; Simon, Jan‐Christoph ; Reiche, Kristin ; Kunz, Manfred

SummaryBackgroundThe histogenetic origin of atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) has not been definitively elucidated. In addition to a fibroblastic origin, a keratinocytic differentiation is discussed due to strong clinical, histomorphological and molecular genetic similarities with undifferentiated cutaneous squamous cell carcinoma (cSCC).Patients and Methods56 cases (36 AFXs, 8 PDSs, 12 undifferentiated cSCCs) were evaluated for their clinical, histomorphological, and immunohistochemical characteristics. RNA transcriptome analysis was performed on 18 cases (6 AFXs/PDSs, 6 undifferentiated cSCCs, 6 differentiated cSCCs).ResultsClinically, the strong similarities in age, gender and tumor location were confirmed. Without further immunohistochemical staining, histomorphological differentiation between AFX/PDS and undifferentiated cSCC is often impossible. Principal component analysis of the RNA transcriptome analysis showed that AFX/PDS and differentiated cSCC each formed their own cluster, while the undifferentiated cSCCs fall in between these two groups, but without forming a cluster of their own. When examining differentially expressed genes (DEGs), the heat maps showed that there were cases within the undifferentiated cSCC that were more likely to be AFX/PDS than differentiated cSCC based on their expression profile.ConclusionsThe results provide evidence of molecular similarities between AFX/PDS and undifferentiated cSCC and suggest a common histogenetic origin.

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