Development of a novel observer reported outcome tool as the primary efficacy outcome measure for a rare disease randomized controlled trial.

Mitochondrion. 2018 09;42:59-63

Authors: Stacpoole PW, Shuster J, Thompson JLPS, Prather RA, Lawson LA, Zou B, Buchsbaum R, Nixon SJ

Abstract
We developed an Observer-Reported Outcome (ObsRO) survey instrument to be applied in a multicenter, placebo-controlled, crossover randomized controlled trial of dichloroacetate in children with pyruvate dehydrogenase complex deficiency. The instrument quantifies a subject's at-home level of functionality, as reported by a parent/caregiver, who were instrumental in providing the clinical descriptors and domains that formed the instrument's content. Feasibility testing of the ObsRO tool showed it to be easy to use and comprehensive in capturing the major clinical functional limitations of affected children and requires less than 5min for a parent/caregiver to complete daily.

PMID: 29129554 [PubMed - indexed for MEDLINE]

10 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/01/29

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/01/27

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Pleural effusion in AA amyloidosis - A rare involvement of a rare disease.

Rev Port Pneumol (2006). 2017 Jul - Aug;23(4):234-236

Authors: Dias C, Tavares I, Magalhães A, Melo N

PMID: 28427884 [PubMed - indexed for MEDLINE]

Mastocytosis.

Gastroenterol Nurs. 2018 Sep/Oct;41(5):380-387

Authors: Birn CS

Abstract
Mastocytosis is a rare and underdiagnosed disorder characterized by mast cell proliferation in the tissues and organs of the body. The gastrointestinal manifestations of the disease can be noted in approximately 70%-80% of those patients diagnosed with the disorder. Symptomatic manifestations of systemic mastocytosis can either be triggered spontaneously or be precipitated by a variety of situations, stimuli, and exposures. Common gastrointestinal complaints include abdominal pain, diarrhea, nausea, vomiting, and gastrointestinal reflux disease. Substantial numbers of mast cells have been noted in patients who have been diagnosed with gastritis, ulcerative colitis, and Crohn disease. Irreversible, with symptoms that run the gamut from the merely annoying to the severely life-threatening, mastocytosis is a disease that prevents an individual from leading a normal life. As the prevalence of gastrointestinal symptomatology in those patients who have been diagnosed with mastocytosis is so significant, it is an important and relevant disease of which gastroenterology nurses should be cognizant.

PMID: 30272600 [PubMed - indexed for MEDLINE]

Linear IgA dermatosis: An atypical manifestation of a rare disease.

Pediatr Neonatol. 2018 06;59(3):324-325

Authors: Ferreira H, Vilarinho C

PMID: 29274682 [PubMed - indexed for MEDLINE]

Utility of Bayesian Single-Arm Design in New Drug Application for Rare Cancers in Japan: A Case Study of Phase 2 Trial for Sarcoma.

Ther Innov Regul Sci. 2018 05;52(3):334-338

Authors: Hirakawa A, Nishikawa T, Yonemori K, Shibata T, Nakamura K, Ando M, Ueda T, Ozaki T, Tamura K, Kawai A, Fujiwara Y

Abstract
Investigational drugs for rare cancers are often approved based solely on a single-arm phase II trial that primarily evaluates response rate in Japan. Such trials typically use a fixed sample size determined on the basis of the frequentist manner. However, since predicting the speed of patient enrollment is challenging because of the disease rarity, the time needed to complete the enrollment of the fixed number of patients is prolonged in some cases. A Bayesian design without fixing the sample size is useful for single-arm phase II trials of rare cancers. However, the arbitrariness of prior distribution specifications and the frequentist operating characteristics are regulatory issues. We recently started a Bayesian single-arm phase II trial of nivolumab in patients with sarcoma for new drug application in Japan and examined the statistical rationale and design consideration. In the Bayesian design, we specify the minimum and maximum numbers of enrolled patients during the enrollment period and the prior distributions of response rates. Considering these parameters, we obtain the minimum number of responders needed for the positive conclusion of the efficacy of nivolumab for each sample size. Simulation studies demonstrated that the operating characteristics of this design would be acceptable from the frequentist view. The Bayesian design provided an adaptive decision rule for efficacy conclusion for the drug without fixing the sample size. We hope our trial's success will provide a new drug development option for rare cancers in Japan.

PMID: 29714533 [PubMed - indexed for MEDLINE]

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/01/23

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Whipple's Disease: A Well-Done Outcome to a Rare Disease.

Dig Dis Sci. 2019 01;64(1):9-11

Authors: Sellin J, Beales ILP

Abstract

PMID: 30406860 [PubMed - indexed for MEDLINE]

Rare Diseases Inform Myocardial Phenotypes for Precision Medicine.

J Card Fail. 2018 10;24(10):680-681

Authors: Macrae CA

PMID: 30218700 [PubMed - indexed for MEDLINE]

Evaluating The Impact Of The Orphan Drug Act's Seven-Year Market Exclusivity Period.

Health Aff (Millwood). 2018 05;37(5):732-737

Authors: Sarpatwari A, Beall RF, Abdurrob A, He M, Kesselheim AS

Abstract
For thirty-five years the Orphan Drug Act of 1983 has provided incentives for pharmaceutical manufacturers to develop drugs to treat rare diseases-conditions that affect fewer than 200,000 people in the US. One key statutory incentive is an exclusive seven-year marketing right for the rare disease indication, which has been heralded as driving a dramatic increase in the number of rare disease treatments. However, most new drugs are also protected by patents. In this study we assessed all new small-molecule drugs approved in the period 1985-2014 that had at least one indication for an orphan-designated disease as of January 1, 2017. We found that orphan drug exclusivity outlasted the last expiring patent in 33 percent of cases overall, and in a smaller percentage of cases for each successive ten-year drug cohort: from 50 percent for drugs approved in 1985-94 to 35 percent for those approved in 1995-2004 and 18 percent for those approved in 2005-14. The Orphan Drug Act's market exclusivity incentive has played an increasingly smaller role in protecting rare disease drugs from competition, while rare disease drugs have substantially increased as a fraction of all new drug approvals.

PMID: 29733729 [PubMed - indexed for MEDLINE]

Embolization of a large progressive symptomatic desmoid tumor in the rectus muscle of a female patient with multiple sclerosis: a case report.

Acta Chir Belg. 2018 Jun;118(3):192-195

Authors: Diebels I, Blockhuys M, Willemsen P, Pirenne Y

Abstract
INTRODUCTION: Desmoid tumors are benign tumors, yet can lead to significant morbidity due to aggressive local expansions. Treatment starts with a wait-and-see policy, however, more aggressive treatments like broad margin resection surgery might be necessary in case of tumor progression.
PATIENTS AND METHODS: We report the case of a 26-year-old female with a symptomatic desmoid tumor in the left rectus muscle. The initial wait-and-see policy led to an increase in tumor size and progression of symptoms. Computed tomography (CT) angiography revealed a dominant arterial blood supply via a branch of the inferior epigastric artery. We then performed a super selective embolization of the dominant arterial blood supply, to avoid the need for broad margin resection.
RESULTS: At three months follow-up, the patient was asymptomatic and magnetic resonance imaging (MRI) showed no residual tumor. At nine months follow-up, MRI scan reconfirmed the successful outcome.
CONCLUSIONS: Embolization of a primary supplying vessel of a desmoid tumor is a viable treatment option. However, scientific evidence remains limited and further research is mandatory for inclusion in evidence based treatment algorithms.

PMID: 28641503 [PubMed - indexed for MEDLINE]

Venous malformation as source of a tarsal tunnel syndrome: treat the source or the cause of the complaints? A case report.

Acta Chir Belg. 2018 Jun;118(3):188-191

Authors: Mufty H, Matricali GA, Thomis S

Abstract
Painful tarsal tunnel syndrome is a compression neuropathy with a variety of possible sources. As it presents a challenging differential diagnostic problem, it is often under-diagnosed. Among the intrinsic and extrinsic factors, varicose veins are the main source in case of a venous etiology. We report a case of a 39-year old male patient who presented with complaints of paresthesia and excessive pain of the right foot, especially the medial side. Further work up by ultrasonography, magnetic resonance imaging and electromyography revealed an extensive congenital venous malformation of the right lower limb with subsequent compression of the tibial nerve in the tarsal tunnel. We did not treat the source, but the cause by open tarsal tunnel release. Excellent result with immediate full relieve of the patients complaints was achieved.

PMID: 28454504 [PubMed - indexed for MEDLINE]

Rare Skin Fistulas Relating to Ascending Colonic Carcinoma: An Unusual Mode of Revelation.

Int J Low Extrem Wounds. 2018 Mar;17(1):48-53

Authors: Zhou H, Shao H, Ho JK, Wang X, Han C, Chen G

Abstract
Chronic or nonhealing wounds is a complex disease influenced by a multitude of factors, such as infection, ischemia, malnutrition, and diabetes and infrequently relates to retroperitoneal carcinoma. We present a case of an adenocarcinoma of ascending colon in a 68-year-old male who had lumbago and waist fistulas with retroperitoneal abscesses preceding other signs or symptoms of colonic malignancy. Supplemental information regarding the diagnosis and treatment of nonhealing wounds and colon carcinoma has also been included in the report. Adenocarcinoma of ascending colon is rarely associated with nonhealing wounds; nevertheless, it should be considered in cases with long-term healing complications. Precise diagnostic deliberation is crucial in the management and treatment of all chronic and long-term nonhealing lesions, and appropriately performed biopsies are essential to determine whether malignancy is the primary cause.

PMID: 29359609 [PubMed - indexed for MEDLINE]

[Multicentric reticulohistiocytosis is a rare form of paraneoplasia].

Ugeskr Laeger. 2018 01 01;180(1):

Authors: Anderson AM, Todberg T, Kofoed K, Iversen TZ, Andersen M, Hjorth SV, Fassi DE

Abstract
A 59-year-old woman developed a rash and severe arthralgia, which primarily affected her fingers. She displayed digital arthritis and nodules on the hands, chest, face, and oral cavity. Blood samples were normal. Skin biopsies revealed histiocytic proliferation. The surface marker profile and clinical findings were consistent with multicentric reticulohistiocytosis, which may occur as a paraneoplastic phenomenon. On workup, she was diagnosed with an otherwise asymptomatic stage IVC fallopian tube cancer. She experienced little effect of prednisolone, but her condition improved on antineoplastic treatment.

PMID: 29298742 [PubMed - indexed for MEDLINE]

Hair cross-sectioning in uncombable hair syndrome: An easy tool for complex diagnosis.

J Am Acad Dermatol. 2018 Oct;79(4):e63-e64

Authors: Piccolo V, Cirocco A, Russo T, Piraccini BM, Starace M, Ronchi A, Argenziano G

PMID: 29906547 [PubMed - indexed for MEDLINE]

Stenotrophomonas maltophilia-A Case Series of a Rare Keratitis Affecting Patients With Bandage Contact Lens.

Eye Contact Lens. 2019 Jan;45(1):e1-e4

Authors: Hogg HDJ, Siah WF, Okonkwo A, Narayanan M, Figueiredo FC

Abstract
OBJECTIVES: Stenotrophomonas maltophilia is an opportunistic pathogen known to form biofilms on contact lens and case surfaces that may result in permanent visual loss in cases of microbial keratitis. Because of its multiple drug resistance and extremely low incidence, there is little consensus on treatment. We investigated the predisposing factors, management, and visual outcomes in a small case series of patients to better inform the management of this rarely reported keratitis.
METHODS: Retrospective analysis of medical records was performed at a single tertiary referral center between 2011 and 2017. The case notes of each microbiology confirmed S. maltophilia keratitis were examined.
RESULTS: Six cases were identified (four men) with a median age of 62 years (range 1 month-90 years) and pre-existing ocular surface disease in all cases. At presentation, four patients were using bandage contact lenses and three were on topical antibiotic and steroid medications. Initial antibiotic treatment was intensive topical 0.3% ofloxacin and 5% cefuroxime, which was modified based on corneal scrape culture and sensitivity and clinical findings. One patient chose not to complete the treatment course. The 5 remaining patients had complete resolution of ulceration over a mean of 2.9 months (SD 0.8 months).
CONCLUSIONS: Contact lens in the context of ocular surface problems, prolonged topical antibiotic and steroid treatments may predispose to S. maltophilia, a rare cause of keratitis. We report successful treatment with case-specific combinations of topical antibiotics such as fluoroquinolone, cotrimoxazole, and/or cephalosporin agents, although visual outcomes remain poor due to corneal scar.

PMID: 29369229 [PubMed - indexed for MEDLINE]

Authors' Reply to Gandjour: "Can the EVIDEM Framework Tackle Issues Raised by Evaluating Treatments for Rare Diseases: Analysis of Issues and Policies, and Context-Specific Adaptation".

Pharmacoeconomics. 2017 05;35(5):605-606

Authors: Wagner M, Goetghebeur M

PMID: 28324439 [PubMed - indexed for MEDLINE]

Comment on: "Can the EVIDEM Framework Tackle Issues Raised by Evaluating Treatments for Rare Diseases: Analysis of Issues and Policies, and Context-Specific Adaptation".

Pharmacoeconomics. 2017 05;35(5):603-604

Authors: Gandjour A

PMID: 28324438 [PubMed - indexed for MEDLINE]

8 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2019/01/17

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.