Clinical Trial Details
— Status: Not yet recruiting
Administrative data
| NCT number |
NCT05874388 |
| Other study ID # |
C22-77 |
| Secondary ID |
2023-A00290-45 |
| Status |
Not yet recruiting |
| Phase |
N/A
|
| First received |
|
| Last updated |
|
| Start date |
September 1, 2023 |
| Est. completion date |
December 15, 2025 |
Study information
| Verified date |
February 2023 |
| Source |
Institut National de la Santé Et de la Recherche Médicale, France |
| Contact |
BENOIT FUNALOT, MD |
| Phone |
01.49.81.28.60 |
| Email |
benoit.funalot[@]aphp.fr |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Interventional
|
Clinical Trial Summary
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.
Description:
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.
