Compassionate Use Research Articles

Peptide Receptor Radionuclide Therapy in Advanced Refractory Meningiomas: Efficacy and Toxicity in a Long Follow-up.

Recurrence of meningiomas after surgery and radiotherapy deserves specific attention because of the lack of active third-line therapies. Somatostatin receptors are usually overexpressed on the cell membrane of meningiomas, and this has led the way to a radionuclide theranostic approach. Diagnoses with 68Ga-DOTA-octreotide and peptide receptor radionuclide therapy (PRRT) with 90Y/177Lu-DOTA-octreotide are currently possible options within experimental protocols or as compassionate use in small patient groups. Methods: From October 2009 to October 2021, 42 meningioma patients with radiologic recurrence after standard therapies were treated with 90Y-DOTATOC (dosage of 1.1 or 5.5 GBq) or with 177Lu-DOTATATE (dosage of 3.7 or 5.5 GBq) in a mean of 4 cycles. All patients showed intense uptake at diagnostic 68Ga-DOTATOC PET/CT or in an 111In-octreotide scan. Results: Of 42 patients treated, 5 patients received 90Y-DOTATOC with a cumulative activity of 11.1 GBq and 37 patients received 177Lu-DOTATATE with a cumulative activity of 22 GBq. The disease control rate was 57%. With a median follow-up of 63 mo, median progression-free survival was 16 mo, and median overall survival was 36 mo. Retreatment 177Lu-PRRT was performed in 6 patients with an administered median activity of 13 GBq in a mean of 5 cycles. With a 75.8-mo follow-up, median progression-free survival and overall survival were 6.5 and 17 mo, respectively. Only 1 patient discontinued the treatment because of grade 3 platelet toxicity. A rapidly transient grade 2 neutropenia was recorded in 1 retreated patient. Conclusion: PRRT in patients with advanced meningiomas overexpressing somatostatin receptor 2 was active and well tolerated, showing a 57% disease control rate. Furthermore, PRRT could represent a potential retreatment option. Further studies, also in combination with other treatments, are warranted.

Adjunctive cenobamate in people with focal onset seizures: Insights from the Italian Expanded Access Program.

This study was undertaken to assess the effectiveness/tolerability of adjunctive cenobamate, variations in the load of concomitant antiseizure medications (ASMs) and predictors of clinical response in people with focal epilepsy. This was a retrospective study at 21 centers participating in the Italian Expanded Access Program. Effectiveness outcomes included retention and responder rates (≥50% and 100% reduction in baseline seizure frequency). Tolerability/safety outcomes included the rate of treatment discontinuation due to adverse events (AEs) and their incidence. Total drug load was quantified as the number of concomitant ASMs and total defined daily dose (DDD). Concomitant ASMs were also classified according to their mechanism of action and pharmacokinetic interactions to perform explorative subgroup analyses. A total of 236 subjects with a median age of 38 (Q1-Q3 = 27-49) years were included. At 12 months, cenobamate retention rate was 78.8% and responders were 57.5%. The seizure freedom rates during the preceding 3 months were 9.8%, 12.2%, 16.3%, and 14.0% at 3, 6, 9, and 12 months. A higher percentage of responders was observed among subjects treated with clobazam, although the difference was not statistically significant. A total of 223 AEs were recorded in 133 of 236 participants, leading to cenobamate discontinuation in 8.5% cases. At 12 months, a reduction of one or two concomitant ASMs occurred in 42.6% and 4.3% of the subjects. The median total DDD of all concomitant ASMs decreased from 3.34 (Q1-Q3 = 2.50-4.47) at baseline to 2.50 (Q1-Q3 = 1.67-3.50) at 12 months (p < .001, median percentage reduction = 22.2%). The highest rates of cotreatment withdrawal and reductions in the DDD were observed for sodium channel blockers and γ-aminobutyric acidergic modulators (above all for those linked to pharmacokinetic interactions), and perampanel. Adjunctive cenobamate was associated with a reduction in seizure frequency and in the burden of concomitant ASMs in adults with difficult-to-treat focal epilepsy. The type of ASM associated did not influence effectiveness except for a favorable trend with clobazam.

Compassionate use trials and equitable access to variant-specific treatment for cystic fibrosis

Compassionate use trials and equitable access to variant-specific treatment for cystic fibrosis

The Importance of Geographic Proximity of Convalescent Plasma Donors.

Donor-recipient proximity emerged as an important factor influencing the efficacy of COVID-19 convalescent plasma (CCP) treatment during the early stages of the COVID-19 pandemic. This relationship was uncovered while analyzing data collected in the collaborative Expanded Access Program (EAP) for CCP at Mayo Clinic, a project aimed to establish protocols for CCP use amid the uncertainty of the novel disease. Analysis of data from nearly 28,000 patients revealed a significant reduction in risk of 30-day mortality for those receiving near-sourced plasma when compared to those receiving distantly sourced plasma [pooled relative risk, 0.73 (95% CI 0.67-0.80)], prompting adjustments in treatment protocols at selected institutions, and highlighting the importance of proximity in optimizing CCP outcomes. Despite its significance, subsequent studies of CCP effectiveness in COVID-19 have often overlooked donor-recipient proximity. Our findings emphasize the importance of donor-recipient proximity in CCP treatment in the current pandemic, and we discuss potential methods for improving CCP efficacy in future pandemics. Our recommendations include prioritizing virus genotyping for vulnerable patients, establishing a robust testing infrastructure, and collecting additional donor data to enhance plasma selection. This chapter underscores the importance of comprehensive data collection and sharing to navigate the evolving landscape of newly emerging infectious diseases.

The PACT Act—Expanding Coverage and Access for Veterans

The PACT Act—Expanding Coverage and Access for Veterans

Neratinib Alone or in Combination with Immune Checkpoint Inhibitors with or without Mammalian Target of Rapamycin Inhibitors in Patients with Fibrolamellar Carcinoma

&lt;b&gt;&lt;i&gt;Introduction:&lt;/i&gt;&lt;/b&gt; Fibrolamellar carcinoma (FLC) displays upregulation of several oncogenes, including &lt;i&gt;HER2&lt;/i&gt;, and multiple immune-suppressive mechanisms. We investigated the efficacy and safety of the pan-HER tyrosine kinase inhibitor neratinib as monotherapy (SUMMIT phase 2 basket study) or with immune checkpoint and/or mammalian target of rapamycin (mTOR) inhibitors (compassionate-use program) in patients with FLC. &lt;b&gt;&lt;i&gt;Methods:&lt;/i&gt;&lt;/b&gt; Patients received neratinib 240 mg/day orally in SUMMIT, or as doublet or triplet combinations with pembrolizumab 2 mg/kg intravenously every 3 weeks, nivolumab 240 mg intravenously every 2 weeks, everolimus 7.5 mg/day orally, or sunitinib 37.5 mg/day orally under compassionate use. The primary endpoint in SUMMIT was objective response rate; safety was a secondary endpoint. &lt;b&gt;&lt;i&gt;Results:&lt;/i&gt;&lt;/b&gt; Fifteen patients with FLC received neratinib monotherapy in SUMMIT. The objective response rate was 5% (95% confidence interval [CI]: 0–21.8) and the disease control rate was 13.3% (95% CI: 1.7–40.5). Upon progression, five had added immune checkpoint inhibitors with or without everolimus or sunitinib. Two additional patients received neratinib-based combinations outside of SUMMIT, for a total of 17 neratinib-treated patients. One patient who received neratinib plus pembrolizumab had a confirmed partial response, one treated with neratinib plus everolimus had stable disease lasting 6 months, and one who received neratinib plus pembrolizumab plus sunitinib had stable disease lasting 16 months. Grade 3/4 adverse events with neratinib monotherapy occurred in 10 (66.7%)/2 (13.3%) patients, respectively. Grade 3 adverse events with neratinib-based combinations were hyperglycemia (&lt;i&gt;n&lt;/i&gt; = 1; neratinib plus pembrolizumab), hepatic failure, and anaphylaxis (&lt;i&gt;n&lt;/i&gt; = 1 each, neratinib plus pembrolizumab plus everolimus). There were no grade 4 adverse events with combination therapy. &lt;b&gt;&lt;i&gt;Conclusion:&lt;/i&gt;&lt;/b&gt; In patients with FLC, single-agent neratinib had limited efficacy, but clinical benefit was observed with neratinib in combination with immunotherapy and/or mTOR-targeted agents.

Time Waits for No One: Expediting and Expanding Access to Transcatheter Aortic Valve Implantation.

Time Waits for No One: Expediting and Expanding Access to Transcatheter Aortic Valve Implantation.

Compassionate use of esketamine intranasal in patients with severe major depressive disorder resistant to the treatment.

Treatment-resistant depression (TRD) is defined as the failure of at least two antidepressants in adequate doses and timing during a major depressive episode. Esketamine intranasal (ESK-IN) has been approved by the Food and Drug Administration and the European Medicines Agency for the treatment of TRD in combination with other antidepressants. To assess the effectiveness and tolerability of a sample of TRD patients who received treatment with ESK-IN as part of the compassionate use program. A retrospective, observational study was carried out on patients with a diagnosis of TRD enrolled in the early access program of ESK-IN in nine centers. Effectiveness was assessed with the Montgomery-Asberg depression rating scale (MADRS) at four time points: baseline, 28, 90, and 180 days of treatment. The sample included 71 patients (70% women) with a mean baseline MADRS score of 38.27 ± 5.9 and total or partial work disability rates of 85%. ESK-IN treatment was associated with a statistically and clinically significant reduction in the severity of depressive symptoms at all time points assessed. The presence of side effects was common but the majority were mild in severity and resolved after the observation period. Those patients who received psychotherapy in combination with ESK-IN showed a significantly lower MADRS score at 90 and 180 days than those patients who did not undergo psychotherapy. ESK-IN has proven to be effective and safe in a clinical sample of patients with severe TRD. To optimize clinical outcomes, the pharmacological treatment for TRD should always be integrated into a comprehensive therapeutic plan that encompasses strategies such as psychotherapy, social support, and family interventions.

Durable benefit and slowdown in tumor growth dynamics with erdafitinib in a FGFR3-TACC3 fusion-positive IDH-wild type glioblastoma.

FGFR3-TACC3 fusion-positive IDH-wild-type (IDH-WT) glioblastoma (GB) is a rare GB subtype occurring in approximately 3% of cases. It is clinical behavior and molecular profile is different from those of fusion-negative IDH-WT GBs. Evidence on the role of FGFR inhibitors in FGFR-altered gliomas is limited. We present the case of a patient with a FGFR3-TACC3 fusion-positive IDH-WT GB that at its second recurrence was treated with the FGFR inhibitor erdafitinib through a compassionate use program. Although no objective response was achieved, an overt deceleration in tumor growth was evidenced and the patient remained on treatment for 5.5 months.

Transjugular Transcatheter Tricuspid Valve Replacement: Early Compassionate Use Outcomes

BackgroundData on procedural and early outcomes after transjugular transcatheter tricuspid valve replacement (TTVR) are limited. ObjectivesThis study sought to evaluate first-in-man procedural and clinical outcomes after transjugular TTVR with a special focus on patients who received large device sizes in whom TTVR outcomes have been questioned. MethodsThe retrospective registry included patients who underwent TTVR using the LuX-Valve Plus system (Jenscare Biotechnology Co Ltd) for symptomatic tricuspid regurgitation (TR) from January 2022 until February 2024 at 15 international centers in a compassionate use setting. The endpoints were procedural TR reduction, in-hospital death, adverse events, and 1-month survival. We further stratified results according to the size of the implanted device (<55 vs ≥55 mm). ResultsThe registry included a total of 76 patients at a median age of 78 years (Q1-Q3: 72-83 years, 47.4% women). TR was reduced to ≤2+ and ≤1+ in 94.7% and 90.8% of patients (75.0% of patients received TTVR devices ≥55 mm) with well-sustained results at 1-month follow-up (TR ≤2+ in 95.0% and ≤1+ 86.8%). Residual TR was paravalvular in all cases. In-hospital death occurred in 4 patients (5.3%). Four patients (5.3%) underwent cardiac surgery during index hospitalization. Major in-hospital bleeding events occurred in 5 patients (6.6%). New in-hospital pacemaker implantation was required in 3.9% of patients in the overall cohort (5.7% in “pacemaker-naive” individuals). No cases of valve thrombosis, stroke, myocardial infarction, or pulmonary embolism were observed. At 1-month follow-up, survival was 94.4%, and NYHA functional class significantly improved. One further patient received a pacemaker, 1 further bleeding event occurred, and 2 patients underwent reintervention or surgery within the first 30 days after TTVR. No differences in procedural outcomes or adverse events were observed after stratification for valve size. ConclusionsTransjugular TTVR appears to be a safe and effective treatment option for patients with severe TR with comparable outcomes in very large tricuspid anatomies.

Policies and Practices Facilitating Access to and Uptake of HIV Testing Services among Adolescents in Sub-Sahara Africa: A Narrative Review.

Expanding access to HIV testing services and linking newly diagnosed positive adolescents to antiretroviral therapy is critical to epidemic control. However, testing coverage and treatment initiation rates continue to lag behind adult counterparts. This article synthesizes evidence on facilitative policies and service delivery practices focused on adolescents to inform programming. Our narrative review found that national policies are growing more adolescent-inclusive but barriers around the age of consent, waiver frameworks and dissemination constrain translate into practice. Facility-based provider-initiated testing through integrated sexual health services and dedicated youth centres demonstrates uptake effectiveness if confidentiality and youth-friendly adaptations are assured. Supportive policies, youth-responsive adaptations across testing models and strengthening age-disaggregated monitoring are vital to improving adolescents' engagement across the HIV testing and treatment cascade. Further implementation research is imperative to expand the reach of adolescent HIV testing in sub-Saharan Africa.

CWP 2.0 - A Transdisciplinary Program Expanding Access to Arts and Technology for High School Students

CWP 2.0 is a transdisciplinary arts and technology program. Each year the facilitation team- Community-Word Project (CWP) teaching artists and professors and graduate students from New York University and Georgia Tech- designs a transdisciplinary project with approximately 15 students from different New York City Title I high schools.n Unlike other STEAM (Science, Technology, Engineering, Arts, and Math) projects, the arts are not superimposed but rather are a fully integrated component of CWP 2.0. Arts education at its core fosters a sense of "permission" for students to experiment, create, fail, and think criticially. The goal of CWP 2.0 is to expand access to skills and opportunites in technology and the arts for students who come from historically marginalized communities. This article will discuss how the program builds on this foundation of exploration and experimentation to foster a space within which students cna create using what they already know and why they learn throughout the program.

Phage Therapy: An Alternative Approach to Combating Multidrug-Resistant Bacterial Infections in Cystic Fibrosis.

Patients with cystic fibrosis (CF) are prone to developing life-threatening lung infections with a variety of pathogens that are difficult to eradicate, such as Burkholderia cepacia complex (Bcc), Hemophilus influenzae, Mycobacterium abscessus (Mab), Pseudomonas aeruginosa, and Staphylococcus aureus. These infections still remain an important issue, despite the therapy for CF having considerably improved in recent years. Moreover, prolonged exposure to antibiotics in combination favors the development and spread of multi-resistant bacteria; thus, the development of alternative strategies is crucial to counter antimicrobial resistance. In this context, phage therapy, i.e., the use of phages, viruses that specifically infect bacteria, has become a promising strategy. In this review, we aim to address the current status of phage therapy in the management of multidrug-resistant infections, from compassionate use cases to ongoing clinical trials, as well as the challenges this approach presents in the particular context of CF patients.

Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy

IntroductionInfantile-onset Pompe disease (IOPD) is due to mutations in the GAA gene leading to profound deficiency of the lysosomal enzyme α-1,4-glucosidase. The disease is characterized by severe hypotonia, hypertrophic cardiomyopathy, macroglossia, and liver enlargement with onset in the first months of life. In the late-onset form (LOPD), muscle signs predominate with a clinical picture resembling muscle dystrophies. Enzyme replacement therapy with alglucosidase alfa (rhGAA) has been available since 2006 and patients treated with the enzyme show improved outcomes. Nevertheless, there is evidence that some patients have a suboptimal response or, after an initial improvement, reach a plateau with stabilization of the clinical picture. Thus, a new enzyme formulation, avalglucosidase alfa (neoGAA), with a higher degree of mannosylation, was developed. MethodsWe conducted a multicenter survey that collected data on four patients with IOPD, aged 6 to 16 years, who were switched to neoGAA thanks to a compassionate use program, after being treated for an average of 11.5 years with rhGAA. Follow-up data, including biochemical parameters and clinical features, were analyzed to determine clinical outcomes and the safety profile after a mean of 9 months. ResultsPatients with IOPD who were treated with neoGAA showed a positive change in biomarker levels. Moreover, the clinical picture revealed improved motor performance and cardiac parameters in patients who previously responded poorly. ConclusionThis study highlights the improved efficacy of neoGAA, as a next generation enzyme replacement therapy, in 4 Italian patients with IOPD. Several clinical parameters showed a positive response to the new formulation suggesting that, if used at diagnosis, neoGAA may result in better outcomes for patients with IOPD.

Regional Differences in Hepatitis C-Related Hospitalization Rates, United States, 2012-2019.

In the United States, hepatitis C is the most commonly reported bloodborne infection. It is a leading cause of liver cancer and death from liver disease and imposes a substantial burden of hospitalization. We sought to describe regional differences in hepatitis C virus (HCV)-related hospitalizations during 2012 through 2019 to guide planning for hepatitis C elimination. We analyzed discharge data from the National Inpatient Sample for 2012 through 2019. We considered hospitalizations to be HCV-related if (1) hepatitis C was the primary diagnosis or (2) hepatitis C was any secondary diagnosis and the primary diagnosis was a liver disease-related condition. We analyzed demographic and clinical characteristics of HCV-related hospitalizations and modeled the annual percentage change in HCV-related hospitalization rates, nationally and according to the 9 US Census Bureau geographic divisions. During 2012-2019, an estimated 553 900 HCV-related hospitalizations occurred in the United States. The highest hospitalization rate (34.7 per 100 000 population) was in the West South Central region, while the lowest (17.6 per 100 000 population) was in the West North Central region. During 2012-2019, annual hospitalization rates decreased in each region, with decreases ranging from 15.3% in the East South Central region to 48.8% in the Pacific region. By type of health insurance, Medicaid had the highest hospitalization rate nationally and in all but 1 geographic region. HCV-related hospitalization rates decreased nationally and in each geographic region during 2012-2019; however, decreases were not uniform. Expanded access to direct-acting antiviral treatment in early-stage hepatitis C would reduce future hospitalizations related to advanced liver disease and interrupt HCV transmission.

Medicaid-Insured Women’s Perceptions of Obstetric Care Quality: Implications for Reproductive Health Equity in the United States

Racial and socioeconomic disparities in maternal health outcomes are significant in the United States. Expanded access to obstetric care through Medicaid, a public health insurance program, aims to address these disparities among racially and economically marginalized birthing people. However, limited research has examined the experiences of women whose obstetric care was covered by Medicaid. This study utilized a birth equity framework informed by reproductive justice principles to analyze interviews with 30 Medicaid-insured women in South Carolina. The analysis focused on study participants’ perceptions of their obstetric care experiences during their most recent pregnancy and hospital stay for labor and delivery. Thematic analysis revealed that participants felt disrespected, dismissed, and ignored by their obstetric care providers. Problems included insurance-related discrimination, insufficient explanations about treatment protocols, mismanagement of pregnancy complications, disregarded pain medication requests, inadequate monitoring of labor progression, and physician absences during delivery. The results substantiate the need for birth equity–informed interventions that facilitate structural competency and cultural humility among medical professionals to improve obstetric care quality among marginalized patients.

What Do Community Doulas Think About the Future of the Doula Workforce?

Expanding access to doula care is a key strategy for improving the perinatal experiences and health outcomes of birthing people of color in the U.S. This study investigates the future of maternal healthcare in the U.S. from the perspective of doulas and highlights emerging technology and other opportunities related to strengthening the doula workforce. The study recruited community doulas from 12 unique U.S. states, ensuring at least half of the doulas predominantly served communities of color. Doulas (N = 26) participated in semi-structured, futures-oriented interviews that explored their experiences providing care during the COVID-19 pandemic and utilization of technology. A subset of doulas (n = 8) were engaged in interactive workshops where they envisioned alternative futures for doula care and childbirth. Interviews and workshops were analyzed using the Framework Method. The COVID-19 pandemic heightened technology use among doulas and increased client accessibility. Social media serves as a unique space for critical community building and client outreach. Doulas reported opportunities to strengthen and mobilize the future workforce: recognizing doula care as a reimbursable service by health insurers, utilizing doula collectives for community practice to decrease burnout, increasing emotional support for doulas, and instilling a chain of learning through mentorship. Futures thinking served as a valuable approach for doulas to illuminate the implications of present-day challenges and empowered doulas to design roadmaps toward better futures for doulas and maternal health. Doulas should be engaged as partners to hold a meaningful decision-making role when discussing policies, employment structures, emerging technology, and other aspects of doulas' positioning within the healthcare system.

The Early Access and the Potential Cost Savings by the Compassionate Use of Onco-haematological Drugs: Results from the Italian Study Compass-O.

Compassionate drug use (CDU) provides early access to not yet authorised medicines and is funded by pharmaceutical companies. The observational retrospective study Compass-O monitored the CDU of onco-haematological drugs, managed by seven Italian units for cytotoxic drug preparations (Unità Farmaci Antiblastici [UFA]), between 1 January, 2016 and 31 December, 2021. We aimed to evaluate the CDU of onco-haematological drugs managed by seven Italian UFA, between 2016 and 2021. The seven UFA provided anonymised data concerning CDU approved in the study period. The early access and potential cost savings for the National Health System (Servizio Sanitario Nazionale [SSN]) were analysed for CDU concerning drug-therapeutic indication combinations with complete data and reimbursed by SSN up to December 2023 (date of study execution), according to the executive decision of the Italian Medicines Agency (Agenzia Italiana del Farmaco [AIFA]). Both analyses distinguished solid/liquid tumours and categorised the combinations as innovative (fully/conditionally) or non-innovative based on AIFA assessments. Compass-O collected 783 CDU authorisations, with 572 (73.1%) analysable in terms of early access and cost savings. On average, early access amounted to 514 days and the total cost savings was €376,115,801. Compassionate drug use approvals involved mainly solid tumours (93.7% vs 6.3% for liquid tumours), and the combination of trastuzumab emtansine-breast cancer was the most dispensed (n = 73; early access = 426 days;potential cost savings: €610,388). Out of 572 CDU approvals, 200 (35%) were innovative drug-therapeutic indication combinations, with 598 days of early access and a total potential saving of €113,124,069. The study Compass-O showed a significant economic burden of CDU and a relevant need for early access, particularly for innovative drugs. However, there is currently no structured monitoring of CDU in Italy, suggesting the need for a national observatory, of which Compass-O can be the pilot phase.

Longitudinal experiences of Canadians receiving compassionate access to psilocybin-assisted psychotherapy

Recent clinical trials have found that the serotonergic psychedelic psilocybin effectively alleviates anxiodepressive symptoms in patients with life-threatening illnesses when given in a supportive environment. These outcomes prompted Canada to establish legal pathways for therapeutic access to psilocybin, coupled with psychological support. Despite over one-hundred Canadians receiving compassionate access since 2020, there has been little examination of these ‘real-world’ patients. We conducted a prospective longitudinal survey which focused on Canadians who were granted Section 56 exemptions for legal psilocybin-assisted psychotherapy. Surveys assessing various symptom dimensions were conducted at baseline, two weeks following the session (endpoint), and optionally one day post-session. Participant characteristics were examined using descriptive statistics, and paired sample t-tests were used to quantify changes from baseline to the two-week post-treatment endpoint. Eight participants with Section 56 exemptions (four females, Mage = 52.3 years), all with cancer diagnoses, fully completed baseline and endpoint surveys. Significant improvements in anxiety and depression symptoms, pain, fear of COVID-19, quality of life, and spiritual well-being were observed. Attitudes towards death, medical assistance in dying, and desire for hastened death remained unchanged. While most participants found the psilocybin sessions highly meaningful, if challenging, one reported a substantial decrease in well-being due to the experience. These preliminary data are amongst the first to suggest that psilocybin-assisted psychotherapy can produce psychiatric benefits in real-world patients akin to those observed in clinical trials. Limited enrollment and individual reports of negative experiences indicate the need for formal real-world evaluation programs to surveil the ongoing expansion of legal access to psychedelics.

Long-Term Follow-Up before and during Riluzole Treatment in Six Patients from Two Families with Spinocerebellar Ataxia Type 7.

Currently no curative treatment exists for spinocerebellar ataxias (SCAs). Riluzole repurposing was proposed as a symptomatic treatment in different types of cerebellar ataxia. We report a long-term-follow up under riluzole treatment in SCA type 7. Six patients received Riluzole 50mg twice daily on a compassionate use program for a mean of 4.8 years (range 3.5-9). We measured ataxia onset and progression through the Scale for the Assessment and Rating of Ataxia (SARA), and collected extensive ophthalmological data before and after Riluzole treatment. Electrocardiogram and laboratory profile for drug safety were performed every six months. Riluzole treatment showed no effect on visual function in two patients with an advanced retinal damage. Improvements of visual function occurred in four patients followed by ophthalmologic stability up to 5 years after starting treatment. Two patients had a less steep deterioration of ataxia after treatment compared to pre-treatment, during the first 2,5 years of therapy. One showed soon after therapy an improvement of the SARA score, and then overall stability lasting 3,5 years, followed by ataxia worsening. One visually impaired patient without neurological impairment did not worse until the last visit after 3,5 years of follow-up. The remaining 2 patients showed an improvement of SARA scores soon after therapy, and an overall stability lasting respectively 5 and 3 years. No adverse event was registered during the observation period. This study suggests a possible beneficial action of Riluzole in SCA7 and provides a detailed description of the ophthalmologic profile of these patients.