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Caratterizzazione del profilo cognitivo di pazienti affetti da atassia di Friedreich (CPCAF)

2 novembre 2026 aggiornato da: Institut National de la Santé Et de la Recherche Médicale, France

Friedreich's Ataxia (FA) Friedreich's Ataxia is a neurodegenerative disease caused by a homozygous expansion of the GAA triplet repeats of the frataxin gene (FXN). FA usually begins in childhood or adolescence. It affects both boys and girls. At the neurophysiological level, FA is characterised by neuronal loss affecting the dorsal root ganglia, spinal cord and cerebellum. At present, daily exercise is the only way to combat the disease. There is no cure for Friedreich's ataxia. Clinically, FA mainly combines balance, movement coordination, articulation (dysarthria) with cardiac involvement and sometimes diabetes . After a few years of evolution, walking is no longer possible. Recent data ; also indicate disturbances in information processing and cognitive functioning. In short, FA involves adolescents who progressively lose walking, writing and speech for some; however, each patient progresses differently with respect to the disease, and this is the case with respect to motor and cognitive symptoms.

Panoramica dello studio

Stato

Attivo, non reclutante

Condizioni

Atassia di Friedrich

Descrizione dettagliata

The role of behavioural and cognitive assessment in the clinical trial The effectiveness of a treatment is ultimately determined by the elimination of the physiological cause of the disease and the alleviation of the symptoms that patients suffer. However, new treatments rarely eliminate all causes and symptoms of the disease. As long as the effectiveness of a treatment is unknown, it is subtle changes in parameters that decide whether the approach taken is worth pursuing. For a clinical trial which is supposed to evaluate the effectiveness of a treatment for Friedreich's Ataxia, it is therefore necessary to evaluate subtle changes in the functioning of the motor and cognitive system induced by the treatment. For this reason, the project is assembling a battery of tests that quantify the most important aspects of motor, cognitive and speech function in patients with FA. These tests are designed with the specific needs of FA patients in mind, i.e. on the one hand, the tests assess functions that are particularly important in view of the symptoms of Friedreich's disease indicated in the scientific literature, and on the other hand, the psychometric characteristics of the tests are adapted to the general abilities of FA patients. In this respect, it is important to point out that the expansion of the GAA repetition in people with Friedreich's disease varies from 150 to 1,000 triples (compared to 7 to 25 in the rest of the population), and that this large variation in the genotype of FA patients could potentially influence the cognitive profile of the participants. Previous studies have suggested the relationship between the number of repeats of the GAA triplet of the FXN gene and performance in cognitive assessment tests. Specifically, while in FA patients both alleles of the FXN gene contain an unusually high number of GAA repeats, performance in cognitive tests would correlate with the number of GAA repeats in the allele that contains fewer such repeats. Using this test battery, we are therefore able to achieve our main objective, i.e. to characterise the cognitive profile of FA patients as a function of the number of GAA triplet repeats of the FXN gene. Specifically, the test battery will establish whether motor, executive and speech symptoms affect patients differently according to their particular genetic characteristics.

Tipo di studio

Osservativo

Iscrizione (Stimato)

Contatti e Sedi

Questa sezione fornisce i recapiti di coloro che conducono lo studio e informazioni su dove viene condotto lo studio.

Luoghi di studio

Francia
- - Paris, Francia
    - Hôpital Necker-Enfants Malades

Criteri di partecipazione

I ricercatori cercano persone che corrispondano a una certa descrizione, chiamata criteri di ammissibilità. Alcuni esempi di questi criteri sono le condizioni generali di salute di una persona o trattamenti precedenti.

Criteri di ammissibilità

Età idonea allo studio

13 anni e precedenti (Bambino, Adulto, Adulto più anziano)

Accetta volontari sani

Sì

Sessi ammissibili allo studio

Tutto

Metodo di campionamento

Campione non probabilistico

Popolazione di studio

The study will involve two groups:

a group of adolescents and adults symptomatic with FA with a confirmed molecular diagnosis, followed in the genetics department of the Necker Hospital
a control group comprising subjects free of any motor or cognitive impairment, recruited from healthy relatives of patients (siblings, cousins, spouses) or for adults, among healthy people who are not related to the patients but who have been made aware of the existence of this research and who would meet the eligibility criteria and consent to participate in the study.

Descrizione

Inclusion Criteria:

Patient group :

Patients aged 13 years or older Patients with FA confirmed by genetic study Compliant patients willing to undergo all tests Enrolled in a social security scheme or beneficiary of such a scheme

Control group :

Subjects aged 13 years or older Genetic characterisation to exclude the presence of alterations in the FXN gene No motor or cognitive impairment Compliant subjects willing to undergo all tests Membership in a social security scheme or beneficiary of such a scheme

Exclusion Criteria:

Patient group :

Optic atrophy or decreased visual acuity Opposition of the patient, or of his parents if the patient is a minor, to participation in the study Non compliant patient according to the Investigator's opinion Person subject to a legal protection measure

Control group :

Alteration in the frataxin gene Optic atrophy or decreased visual acuity Opposition of the patient, or of his parents if the patient is a minor, to participation in the study Non-compliant patient in the opinion of the Investigator Person subject to a legal protection measure

Piano di studio

Questa sezione fornisce i dettagli del piano di studio, compreso il modo in cui lo studio è progettato e ciò che lo studio sta misurando.

Come è strutturato lo studio?

Dettagli di progettazione

Modelli osservazionali: CASE_CONTROL
Prospettive temporali: PROSPECTIVE

Coorti e interventi

Gruppo / Coorte Gruppo / Coorte Un gruppo o sottogruppo di partecipanti a uno studio osservazionale che viene valutato per gli esiti biomedici o sanitari.
Control Group Comprising subjects free of any motor or cognitive impairment, recruited from healthy relatives of patients (siblings, cousins, spouses) or for adults, among healthy people who are not related to the patients but who have been made aware of the existence of this research and who would meet the eligibility criteria and consent to participate in the study. The study will take place in a single session, during a health care consultation, during which the previously selected patients will take the tests included in the battery on a computer dedicated for the study. The total duration of the test is 45 minutes. No further visits will be necessary.
Symptomatic participants The study will involve a group of adolescents and adults symptomatic with FA with a confirmed molecular diagnosis, followed in the genetics department of the Necker Hospital. The study will take place in a single session, during a health care consultation, during which the previously selected patients will take the tests included in the battery on a computer dedicated for the study. The total duration of the test is 45 minutes. No further visits will be necessary. The validation of the results obtained will be determined by the correlation indices between the cognitive test scores used and the demographic variables and disease parameters considered, in particular the number of GAA triplet repeats in the allele of the FXN gene that contains the fewest repeats.

Gruppo / Coorte

Control Group

Comprising subjects free of any motor or cognitive impairment, recruited from healthy relatives of patients (siblings, cousins, spouses) or for adults, among healthy people who are not related to the patients but who have been made aware of the existence of this research and who would meet the eligibility criteria and consent to participate in the study. The study will take place in a single session, during a health care consultation, during which the previously selected patients will take the tests included in the battery on a computer dedicated for the study. The total duration of the test is 45 minutes. No further visits will be necessary.

Symptomatic participants

The study will involve a group of adolescents and adults symptomatic with FA with a confirmed molecular diagnosis, followed in the genetics department of the Necker Hospital. The study will take place in a single session, during a health care consultation, during which the previously selected patients will take the tests included in the battery on a computer dedicated for the study. The total duration of the test is 45 minutes. No further visits will be necessary. The validation of the results obtained will be determined by the correlation indices between the cognitive test scores used and the demographic variables and disease parameters considered, in particular the number of GAA triplet repeats in the allele of the FXN gene that contains the fewest repeats.

Cosa sta misurando lo studio?

Misure di risultato primarie

Misura del risultato	Misura Descrizione	Lasso di tempo
characterization of the cognitive profile of patients suffering from Friedreich's Ataxia as a function of the number of GAA triplet repeats in the allele of the FXN gene that contains the least number of repeats. Lasso di tempo: through study completion, an average of 3 years	Correlation of cognitive test scores	through study completion, an average of 3 years

Misure di risultato secondarie

Misura del risultato	Misura Descrizione	Lasso di tempo
Characterization of the motor profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease Lasso di tempo: through study completion, an average of 3 years	Correlation of motor test scores with demographic variables demographic variables, disease parameters	through study completion, an average of 3 years
Characterization of the executive profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease Lasso di tempo: through study completion, an average of 3 years	Correlation of scores on tests of executive functions	through study completion, an average of 3 years
Characterization of the speech production profile of patients with Friedreich's Ataxia according to demographic variables and parameters related to the disease Lasso di tempo: through study completion, an average of 3 years	Correlation of speech production assessment test scores with demographic variables, disease-related parameters	through study completion, an average of 3 years
To determine which dimensions of cognitive functioning are affected in patients with Friedreich's Ataxia and to verify the sensitivity of tests aimed at evaluating these dimensions to detect deficits in patients compared to healthy healthy subjects. Lasso di tempo: through study completion, an average of 3 years	Comparison of motor test scores between patients and controls. Comparison of executive function test scores between patients and controls. Comparison of speech evaluation test scores between patients and controls.	through study completion, an average of 3 years

Collaboratori e investigatori

Qui è dove troverai le persone e le organizzazioni coinvolte in questo studio.

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Investigatori

Investigatore principale: Benoit Funalot, APHP

Studiare le date dei record

Queste date tengono traccia dell'avanzamento della registrazione dello studio e dell'invio dei risultati di sintesi a ClinicalTrials.gov. I record degli studi e i risultati riportati vengono esaminati dalla National Library of Medicine (NLM) per assicurarsi che soddisfino specifici standard di controllo della qualità prima di essere pubblicati sul sito Web pubblico.

Studia le date principali

Inizio studio (Effettivo)

19 giugno 2023

Completamento primario (Stimato)

1 dicembre 2026

Completamento dello studio (Stimato)

1 dicembre 2026

Date di iscrizione allo studio

Primo inviato

7 febbraio 2023

Primo inviato che soddisfa i criteri di controllo qualità

23 maggio 2023

Primo Inserito (Effettivo)

24 maggio 2023

Aggiornamenti dei record di studio

Ultimo aggiornamento pubblicato (Effettivo)

4 novembre 2026

Ultimo aggiornamento inviato che soddisfa i criteri QC

2 novembre 2026

Ultimo verificato

1 novembre 2026

Maggiori informazioni

Termini relativi a questo studio

Parole chiave

FRATAXINA

Termini MeSH pertinenti aggiuntivi

Altri numeri di identificazione dello studio

C22-77
2023-A00290-45 (Identificatore di registro: IDRCB)

Piano per i dati dei singoli partecipanti (IPD)

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Queste informazioni sono state recuperate direttamente dal sito web clinicaltrials.gov senza alcuna modifica. In caso di richieste di modifica, rimozione o aggiornamento dei dettagli dello studio, contattare register@clinicaltrials.gov. Non appena verrà implementata una modifica su clinicaltrials.gov, questa verrà aggiornata automaticamente anche sul nostro sito web .