Condition: Spinocerebellar Ataxia 27B (SCA27B) · Sponsor: Assistance Publique - Hôpitaux de Paris
Spinocerebellar ataxias 27B (SCA27B) is caused by an expansion of ≥ 250 GAA triplets in the FGF14 gene and accounts for 15% of cerebellar ataxias (around 500 patients in France). It is a late-onset form often presenting paroxysmal episodes of ataxia and/or diplopia. The disease progresses slowly, with an average increase of 0.10 points/year on the Friedreich's Ataxia Rating Scale (FARS) - Functional Staging and by 0.23 points/year on the Scale for the Assessment and Rating of Ataxia (SARA). To date, no treatment has been proven to be effective in these patients. Three open-label studies using 4-aminopyridine, have shown improvements in visual symptoms and gait in a total of 36 out of 44 patients, although these improvements were evaluated through diverse methodologies. In a subgroup of patients (n=7), administration of 4-aminopyridine resulted in a reduction in FARS - Functional Staging, ranging from 0.5 to 2 points. Notably, this beneficial effect rapidly disappearing in all patients stopping the drug. 4-aminopyridine, a potassium channel blocker, may involve restoration of cerebellar Purkinje cell rhythmic firing property, impaired with the loss of FGF14 function. Although these results appear very promising, the positive effect of 4-aminopyridine is reported only in restricted sample sizes and open-label experiences. Therefore, a robust clinical trial is necessary to provide the level of evidence required for a definitive conclusion on the benefit-risk of fampridine and be…
This description comes directly from the study's public registry record.
Giulia COARELLI · + 33 (0)1 57 27 46 82 · giulia.coarelli@aphp.fr
Alexandra DURR · alexandra.durr@icm-institute.org
Always discuss trial participation with your own doctor first.
| Neurology Department, CHU d'Angers | Angers, France | Not Yet Recruiting |
| Genetics Department, CHU de Bordeaux | Bordeaux, France | Recruiting |
| Neurology and Gentics Department, CHU de Dijon | Dijon, France | Recruiting |
| Neurology Department, Hôpital Pierre Wertheimer Hospital | Lyon, France | Not Yet Recruiting |
| Neurology Department, Gui De Chauliac Hospital | Montpellier, France | Recruiting |
| Genetics Department, Pitié-Salpêtrière University Hospital | Paris, France | Recruiting |
| Genetics Department, CHU de Rouen | Rouen, France | Not Yet Recruiting |
| Neurology Department, CHRU de Strasbourg | Strasbourg, France | Not Yet Recruiting |
| Neurology Department, CHU de Toulouse | Toulouse, France | Not Yet Recruiting |
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Source record: clinicaltrials.gov/study/NCT07185347