scholarly journals Long-term follow-up of cystinosis patients treated with 0.55% cysteamine hydrochloride

2020 ◽  
pp. bjophthalmol-2020-316450 ◽  
Author(s):  
Hong Liang ◽  
Antoine Labbé ◽  
Christophe Baudouin ◽  
Celine Plisson ◽  
Vincenzo Giordano
Keyword(s):  
Autosomal Recessive ◽  
Adverse Reactions ◽  
Autosomal Recessive Disorder ◽  
Underlying Disease ◽  
Blurred Vision ◽  
Serious Adverse Events ◽  
Long Term Follow Up ◽  
Viscous Solution

Background/AimsCystinosis is a rare, autosomal recessive disorder causing defective transport of cystine out of lysosomes. Cystadrops (0.55% cysteamine hydrochloride in viscous solution) has been used on a named-patient basis to treat the accumulation of cystine crystals in the cornea in patients with cystinosis.MethodsRetrospective analysis of the Temporary Authorisation for Use cohort of 130 patients who received Cystadrops between 2013 and 2017 in France.ResultsPatients received an average dosage of 3.3 (±0.94) instillations per eye per day. Over the duration of follow-up, of up to 45 months, patients maintained visual acuity scores of 0.0, which approximated normal. Corneal cystine crystal scores tended to decrease over time, stabilising after around 27 months between 1.22 and 1.87. Photophobia decreased within 3 months, stabilising on scores of around 1.5 and 1.7. 47 non-serious adverse reactions were reported, which were generally transient irritation, stinging or blurred vision. Four serious adverse events were reported, including keratitis and corneal ulcer, but these may have been caused by the underlying disease.ConclusionThis large safety cohort confirms the efficacy, safety and tolerability of Cystadrops in real-world clinical practice.

scholarly journals Long-term follow-up on effectiveness and safety of etanercept in juvenile idiopathic arthritis: the Dutch national register

2008 ◽  
Vol 68 (5) ◽  
pp. 635-641 ◽  
Author(s):  
F H M Prince ◽  
M Twilt ◽  
R ten Cate ◽  
M A J van Rossum ◽  
W Armbrust ◽  
...  
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Adverse Events ◽  
Rheumatoid Factor ◽  
Serious Adverse Events ◽  
American College Of Rheumatology ◽  
Systemic Jia ◽  
Long Term Follow Up ◽  
Remission Criteria

Objective:We undertook an observational study to obtain a complete overview of the long-term effectiveness and safety of etanercept in patients with different juvenile idiopathic arthritis (JIA) subtypes.Methods:At baseline we collected patient and disease characteristics of all Dutch patients with JIA who started treatment with etanercept. Disease activity was evaluated (at start of the study, after 3 months and then yearly) according to the JIA core set of the American College of Rheumatology paediatric definition for 30, 50 and 70% improvement (ACR Pedi 30, 50 and 70). Use of etanercept and concomitant drugs was monitored. Adverse events were recorded.Results:We included 146 patients with JIA with a median follow-up of 2.5 years per patient (range 0.3–7.3). JIA subtypes represented: 27% systemic, 8% polyarticular rheumatoid factor positive, 38% polyarticular rheumatoid factor negative, 19% oligoarticular extended, 3% enthesitis-related and 5% psoriatica. Most patients (77%) met the criteria of the ACR Pedi 30 in the first 3 months of treatment. For the majority of patients this improvement was sustained; 53 (36%) of all patients met the remission criteria. No other second-line agents were needed in 43 patients. Although patients with systemic JIA responded initially less to etanercept therapy than patients from other subtypes, those who did respond showed equal effectiveness in the long term. Serious adverse events rate was low (0.029 per patient year).Conclusions:Etanercept is effective and safe in JIA, even for a large proportion of the patients with systemic JIA. The greatest improvement occurred in the first 3 months of treatment, and was sustained for a long time in most patients (up to 75 months).

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

2021 ◽  
pp. 088307382110047
Author(s):  
Özlem Akgün-Doğan ◽  
Pelin Ozlem Simsek-Kiper ◽  
Ekim Taşkıran ◽  
Anna Schossig ◽  
Gülen Eda Utine ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Epileptic Encephalopathy ◽  
Clinical Findings ◽  
Global Developmental Delay ◽  
Molecular Characteristics ◽  
Long Term Follow Up ◽  
Main Components

Kohlschütter-Tönz syndrome (OMIM 226750) is a rare disorder with autosomal recessive inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschütter-Tönz syndrome families have been reported in the literature. Early-onset epilepsy, progressive global developmental delay, and amelogenesis imperfecta are the main components of the syndrome. Mutations in ROGDI (MIM 226750) and SLC13A5 (MIM 615905) are responsible for Kohlschütter-Tönz syndrome. Here, we report on the clinical and molecular characteristics of 3 individuals from 2 families, all harboring the same homozygous novel deleterious variant in ROGD1, along with a long-term follow-up and review of the literature. Although the phenotypic features are almost consistent in Kohlschütter-Tönz syndrome, overlooking dental findings and diverse degrees of variability in clinical findings makes diagnosis challenging occasionally. Because there is a limited number of reported patients, identification of new patients and delineation of clinical and molecular findings will increase the awareness of clinicians and enable establishing genotype-phenotype correlations.

scholarly journals Safety and Potential Risks with Fecal Microbiota Transplantation

2021 ◽  
Author(s):  
Pratyusha Gaonkar
Keyword(s):  
Adverse Events ◽  
Therapeutic Potential ◽  
Fecal Microbiota Transplantation ◽  
Standard Of Care ◽  
Fecal Microbiota ◽  
Serious Adverse Events ◽  
Recurrent Clostridium Difficile Infection ◽  
Long Term Follow Up

The therapeutic potential of Fecal Microbiota Transplantation (FMT) is greatly proved worldwide in the recent years. The use of FMT is now an accepted treatment modality and effective standard of care for some patients owing to its success in treating recurrent Clostridium Difficile Infection (rCDI). However, it is still evolving and longer term follow-up data regarding safety are required. Post-FMT serious adverse events (SAEs) have been varied between studies, however have included significant morbidity necessitating hospital admission and mortality in the follow-up period. The follow-up of FMT recipients should be long enough to completely establish efficacy/adverse events. Furthermore, it is recommended that FMT should be offered with caution to immunosuppressed patients, in whom FMT appears efficacious without significant additional adverse effects. In the wake of COVID-19 situation, stringent policies in screening the FMT donors have to be put forth to ensure patient safety. There is a need for high-quality, large, prospective, randomized controlled trials and long-term follow-up investigating screened donors and recipients to evaluate the long term safety and the risk–benefit profile of this promising therapy.

scholarly journals Autosomal recessive polycystic kidney disease in the 21st century: Long-term follow-up and outcomes

2019 ◽  
Vol 91 (2) ◽  
pp. 120-122
Author(s):  
Alba Rubio San Simón ◽  
Tania Carbayo Jiménez ◽  
Julia Vara Martín ◽  
Clara Alonso Díaz ◽  
Mar Espino Hernández
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
21St Century ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Long Term Follow Up

Clinical case of infective endocarditis

2020 ◽  
Vol 18 (6) ◽  
pp. 167-169
Author(s):  
E. Yu. ISAKOVA ◽  
◽  
T. Yu. ATAMANOVA ◽  
Keyword(s):  
Heart Disease ◽  
Infective Endocarditis ◽  
Rheumatic Heart Disease ◽  
Laboratory Data ◽  
Underlying Disease ◽  
Duke Criteria ◽  
Long Term Follow Up ◽  
Rheumatic Heart

The article presents the results of clinical observation of a patient with a favorable course and outcome of infective endocarditis in the presence of pronounced echocardiographic changes that arose during long-term follow-up of the patient for the underlying disease (hypertension). The clinical characteristics of the disease, the dynamics of instrumental, and the laboratory data during therapy are presented. The diagnosis of infective endocarditis was established by a team of doctors according to the modified Duke criteria (according to Li): one large criterion — echocardiographic signs (vegetation on the valve), one small criterion — chronic rheumatic heart disease, chronic tonsillitis. Information on the infective endocarditis development against the background of chronic rheumatic heart disease in identical twins is presented.

Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment

2004 ◽  
Vol 174 (1) ◽  
pp. 165-172 ◽  
Author(s):  
Rossitza P. Naoumova ◽  
Clare Neuwirth ◽  
Philip Lee ◽  
J.Paul Miller ◽  
Kenneth G. Taylor ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Response To Treatment ◽  
Long Term Follow Up

scholarly journals Three years efficacy and safety of Takeda’s dengue vaccine candidate (TAK-003)

2021 ◽  
Author(s):  
Luis Rivera ◽  
Shibadas Biswal ◽  
Xavier Sáez-Llorens ◽  
Humberto Reynales ◽  
Eduardo López-Medina ◽  
...  
Keyword(s):  
Vaccine Candidate ◽  
Efficacy And Safety ◽  
Dengue Vaccine ◽  
Serious Adverse Events ◽  
Post Vaccination ◽  
Safety Risks ◽  
Long Term Follow Up ◽  
To Receive

Abstract Background Takeda’s live attenuated tetravalent dengue vaccine candidate (TAK-003) is under evaluation in a long-term clinical trial across eight dengue-endemic countries. Previously, we have reported its efficacy and safety in both seronegative and seropositive participants and that its performance varies by serotype, with some decline in efficacy from first to second year post-vaccination. This exploratory analysis provides an update with cumulative and third year data. Methods Healthy 4–16 year-olds (n=20,099) were randomized 2:1 to receive TAK-003 or placebo (0, 3 month schedule). The protocol included baseline serostatus testing of all participants and detection of all symptomatic dengue throughout the trial with a serotype specific RT-PCR. Results Cumulative efficacy after three years was 62.0% (95% confidence interval: 56.6%, 66.7%) against virologically-confirmed dengue (VCD) and 83.6% (76.8%, 88.4%) against hospitalized VCD. Efficacy was 54.3% (41.9%, 64.1%) against VCD and 77.1% (58.6%, 87.3%) against hospitalized VCD in baseline seronegatives, and 65.0% (58.9%, 70.1%) against VCD and 86.0% (78.4%, 91.0%) against hospitalized VCD in seropositives. Efficacy against VCD during the third year declined to 44.7% (32.5%, 54.7%), while efficacy against hospitalized VCD was sustained at 70.8% (49.6%, 83.0%). Rates of serious adverse events were 2.9% in TAK-003 group and 3.5% in placebo group during the ongoing long-term follow-up (i.e. second half of the three years following vaccination), but none were related. No important safety risks were identified. Conclusions TAK-003 was efficacious against symptomatic dengue over three years. Efficacy declined over time but remained robust against hospitalized dengue. A booster dose evaluation is planned.

scholarly journals Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

Diagnostics ◽  
2020 ◽  
Vol 10 (10) ◽  
pp. 738
Author(s):  
Edyta Szymańska ◽  
Aleksandra Jezela-Stanek ◽  
Anna Bogdańska ◽  
Dariusz Rokicki ◽  
Ewa Ehmke vel Emczyńska-Seliga ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Autosomal Recessive ◽  
Clinical State ◽  
Neurological Outcomes ◽  
Pathogenic Variants ◽  
Novel Variants ◽  
Long Term Follow Up ◽  
Isovaleric Aciduria

Isovaleric acidemia (IVA) is an autosomal recessive leucine inborn error of metabolism caused by isovaleryl-CoA dehydrogenase deficiency. The disease has various courses, from severe ones manifesting in newborns to the intermittent form with first manifestation in children and adults. The aim of this study was to analyze clinical and neurological outcomes in Polish patients with IVA. Ten patients diagnosed and treated in The Children’s Memorial Health Institute were included in the study. The diagnosis was based on tandem MS (increased level of C5 acylcarnitine) and urine GCMS (increased isovalerylglycine, and 3-hydroxyisovaleric acid). Molecular analysis was performed in seven patients (70%) leading to the detection of pathogenic variants in the IVD gene in all of them. A retrospective analysis of patients’ medical records included: demographics, symptoms at diagnosis, medical management, and biochemical and clinical outcomes following therapy. The median follow-up time (median; Q1–Q2) was 2.5 years (1.5–9.0) for newborn screening (NBS) and family screening (FS) children, and 17 years (5.0–20) for symptomatic patients. Five patients were in a good clinical state, four children presented mild neurological symptoms, and one—severely delayed child. In the IVD gene, five known and two novel variants (p.466C>G, c.1132G>A) were identified. Molecular analysis was performed in seven patients leading to identification of biallelic pathogenic variants in the IVD gene in all of them. We can conclude that long-term clinical and neurological outcomes of patients with IVA were satisfactory as a result of an early diagnosis and proper management. Although early treatment did not prevent decompensations, they were milder in these patients.

Pegfilgrastim in colorectal cancer (CRC) patients (pts) receiving every-two-week (Q2W) chemotherapy (CT): Long-term results from a phase II, randomized, controlled study

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 4072-4072
Author(s):  
J. R. Hecht ◽  
M. Pillai ◽  
R. Gollard ◽  
L. Dreiling ◽  
M. Mo ◽  
...  
Keyword(s):  
Study Drug ◽  
Treatment Phase ◽  
Progression Free Survival ◽  
Long Term Results ◽  
Controlled Study ◽  
Serious Adverse Events ◽  
Long Term Follow Up ◽  
Grade 3

4072 Background: Survival in advanced CRC is prolonged by adding oxaliplatin (Ox) and/or irinotecan (Iri) to Q2W 5-fluorouracil/leucovorin (5FU/LV). Combination therapy, however, has a higher incidence of febrile neutropenia (FN) and related toxicities. This study evaluated pegfilgrastim dosing on day 4 of Q2W regimens in CRC. Here we present long-term follow-up of these pts. Methods: Advanced CRC pts were randomized (1:1) to pegfilgrastim 6mg or placebo, which was stratified by CT regimen received: FOIL, FOLFOX, or FOLFIRI. We previously reported grade 3/4 neutropenia (primary endpoint) in 43% placebo and 13% pegfilgrastim pts in the 4-cycle treatment phase (odds ratio = 0.19, 95% CI: 0.10–0.37; p < 0.0001). After end of treatment, pts were followed long term for ≤ 2 years (inclusive of ≤ 8 additional cycles) for serious adverse events (SAEs), overall survival (OS), and progression-free survival (PFS). Median follow-up time was 519 days. Kaplan-Meier methods estimated OS and PFS from study day 1. The study was not powered to detect PFS or OS differences between treatment groups. Results: Of 241 pts analyzed (123 pegfilgrastim, 118 placebo), 49% received FOLFOX, 26% FOLFIRI, and 25% FOIL. In the treatment period, 8% placebo and 2% pegfilgrastim pts had grade 3/4 FN ( Table ). Pegfilgrastim was well tolerated with no dose delays attributed to leukocytosis. Pegfilgrastim and placebo had similar PFS and OS ( Table ). No SAEs related to study drug were reported in the follow-up period. Conclusions: In this randomized, placebo-controlled study, pegfilgrastim significantly lowered neutropenic risk. Bone pain incidence in this CRC population was lower than in breast cancer pts treated with a taxane (Vogel J Clin Oncol 2005); the incidence in pegfilgrastim pts was modestly increased over placebo. Leukocytosis was not a concern despite the 11-day dosing interval. Long-term results suggest similar PFS and OS in the pegfilgrastim and placebo pts in this CRC study. [Table: see text] [Table: see text]

Sign in / Sign up

Export Citation Format

Share Document