How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration.

abstract：BACKGROUND:Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N-acetylglutamate (NAG) synthase. Rapid reduction in plasma ammonia is requir...

journal_title：Orphanet journal of rare diseases

authors： Valayannopoulos V,Baruteau J,Delgado MB,Cano A,Couce ML,Del Toro M,Donati MA,Garcia-Cazorla A,Gil-Ortega D,Gomez-de Quero P,Guffon N,Hofstede FC,Kalkan-Ucar S,Coker M,Lama-More R,Martinez-Pardo Casanova M,Molina A,Picha

更新日期：2016-03-31 00:00:00

abstract：BACKGROUND:A study was designed to identify the source of fever in a patient with post-polycythemia myelofibrosis, associated with clonal Janus Kinase 2 (JAK2) mutation involving duplication of exon 12. The patient presented with 1-2 day long self-limited periodic episodes of high fever that became more frequent as the...

journal_title：Orphanet journal of rare diseases

authors： Shinar Y,Tohami T,Livneh A,Schiby G,Hirshberg A,Nagar M,Goldstein I,Cohen R,Kukuy O,Shubman O,Sharabi Y,Gonzalez-Roca E,Arostegui JI,Rechavi G,Amariglio N,Salomon O

更新日期：2015-06-30 00:00:00

abstract：:Patients with TARDBP mutations have so far been classified as ALS, sometimes with frontal lobe dysfunction. A 66-year-old patient progressively developed a severe sensory disorder, followed by a motor disorder, which evolved over nine years. Symptoms started in the left hand and slowly involved the four limbs. Investi...

journal_title：Orphanet journal of rare diseases

authors： Camdessanché JP,Belzil VV,Jousserand G,Rouleau GA,Créac'h C,Convers P,Antoine JC

更新日期：2011-02-05 00:00:00

abstract：BACKGROUND:Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and is also associated with autism spectrum disorders. Previous studies implicated BKCa channels in the neuropathogenesis of FXS, but the main question was whether pharmacological BKCa stimulation would be able to rescue FX...

journal_title：Orphanet journal of rare diseases

authors： Hébert B,Pietropaolo S,Même S,Laudier B,Laugeray A,Doisne N,Quartier A,Lefeuvre S,Got L,Cahard D,Laumonnier F,Crusio WE,Pichon J,Menuet A,Perche O,Briault S

更新日期：2014-08-01 00:00:00

abstract：:The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6...

journal_title：Orphanet journal of rare diseases

authors： Cereda A,Carey JC

更新日期：2012-10-23 00:00:00

abstract：BACKGROUND:Thalassaemia is a potentially life-threatening yet preventable inherited hemoglobin disorder. Understanding local socio-cultural context and level of public awareness about thalassaemia is pivotal for selecting effective prevention strategies. This study attempted to assess knowledge and perceptions about th...

journal_title：Orphanet journal of rare diseases

authors： Hossain MS,Hasan MM,Raheem E,Islam MS,Al Mosabbir A,Petrou M,Telfer P,Siddiqee MH

更新日期：2020-02-21 00:00:00

abstract：BACKGROUND:The needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge and expertise are limited and patient populations are geographically dispersed. Understanding what p...

journal_title：Orphanet journal of rare diseases

authors： Courbier S,Dimond R,Bros-Facer V

更新日期：2019-07-12 00:00:00

abstract：BACKGROUND:Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most of the IMDs are inherited in an autosomal recessive manner. The incidence of IMDs varies from country to country and within different ethnic groups, b...

journal_title：Orphanet journal of rare diseases

authors： Hazan G,Hershkovitz E,Staretz-Chacham O

更新日期：2020-11-25 00:00:00

abstract：BACKGROUND:Purine nucleoside analogs (PNAs) are the recommended first-line treatment for patients with hairy cell leukemia (HCL), but they are associated with adverse events (AEs). Due to a lack of real-world evidence regarding AEs that are associated with PNAs, we used commercial data to assess AE rates, AE-related he...

journal_title：Orphanet journal of rare diseases

authors： Epperla N,Pavilack M,Olufade T,Bashyal R,Li J,Kabadi SM,Yuce H,Andritsos L

更新日期：2020-02-13 00:00:00

abstract：BACKGROUND:The concept of individual burden, associated with disease, has been introduced recently to determine the "disability" caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). Inherited ichthyosis belong to a large heterogeneous group of Mendelian Disorders of Cor...

journal_title：Orphanet journal of rare diseases

authors： Dufresne H,Hadj-Rabia S,Méni C,Sibaud V,Bodemer C,Taïeb C

更新日期：2013-02-15 00:00:00

abstract：BACKGROUND:Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment. The management of PKU should start as soon as possible after diagno...

journal_title：Orphanet journal of rare diseases

authors： Trefz KF,Muntau AC,Kohlscheen KM,Altevers J,Jacob C,Braun S,Greiner W,Jha A,Jain M,Alvarez I,Lane P,Schröder C,Rutsch F

更新日期：2019-07-22 00:00:00

abstract：BACKGROUND:Fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) is a form of tumor progression of dermatofibrosarcoma protuberans (DFSP) with an increased risk of metastasis and recurrence. Few studies have compared the clinicopathological features of FS-DFSP and conventional DFSP (C-DFSP). OBJECTIVES:To better ...

journal_title：Orphanet journal of rare diseases

authors： Li Y,Liang J,Xu X,Jiang X,Wang C,Chen S,Xiang B,Ji Y

更新日期：2021-01-26 00:00:00

abstract：BACKGROUND:Stiff Person Syndrome (SPS) is a rare autoimmune movement disorder characterized by the presence of autoantibodies specific to the smaller isoform of glutamate decarboxylase (GAD65). A pathological role of these antibodies has been suggested by their capacity to inhibit GAD65 enzyme activity and by the obser...

journal_title：Orphanet journal of rare diseases

authors： Hampe CS,Petrosini L,De Bartolo P,Caporali P,Cutuli D,Laricchiuta D,Foti F,Radtke JR,Vidova V,Honnorat J,Manto M

更新日期：2013-06-05 00:00:00

abstract：:IgA pemphigus is an exceedingly rare autoimmune blistering disorder, caused by IgA autoantibodies against desmosomal proteins. No treatment option has been found to be universally effective. The disease is often recalcitrant to oral steroids and immunosuppressants. Here, we describe the use of systemic retinoids for t...

journal_title：Orphanet journal of rare diseases

authors： Schauer F,Kern JS,Kiritsi D

更新日期：2018-09-18 00:00:00

abstract：:Chronic intestinal pseudo-obstruction (CIPO) is a rare intestinal motility disorder with significant morbidity and mortality in pediatric patients. The diagnosis of CIPO is difficult, because it is clinically based on the symptoms and signs of bowel obstruction which are similar to the clinical manifestations of other...

journal_title：Orphanet journal of rare diseases

authors： Yan JK,Zhou KJ,Huang JH,Wu QQ,Zhang T,Wang CC,Cai W

更新日期：2017-03-28 00:00:00

abstract：BACKGROUND:Severe to profound sensorineural hearing loss (SNHL) requires cochlear implantation (CI) for auditory rehabilitation. Etiologic diagnoses can contribute to candidacy selection and decision-making regarding the timing of successful CI. However, few studies have been performed to address the etiologic spectrum...

journal_title：Orphanet journal of rare diseases

authors： Park JH,Kim NK,Kim AR,Rhee J,Oh SH,Koo JW,Nam JY,Park WY,Choi BY

更新日期：2014-11-06 00:00:00

abstract：BACKGROUND:Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The defect cause the accumulation of oligosaccharides (OS) and, depending on the lacking enzyme, results in characteristic profiles which are helpful for the...

journal_title：Orphanet journal of rare diseases

authors： Semeraro M,Sacchetti E,Deodato F,Coşkun T,Lay I,Catesini G,Olivieri G,Rizzo C,Boenzi S,Dionisi-Vici C

更新日期：2021-01-09 00:00:00

abstract：BACKGROUND:Hepatic macrophage (Kupffer cell) hyperplasia is often described in Wilson's disease (WD). In many liver diseases, Kupffer cell activation is related to disease severity, liver function, and fibrosis but the importance in WD is unknown. Kupffer cell activation can be assessed by the P-concentration of solubl...

journal_title：Orphanet journal of rare diseases

authors： Björklund J,Laursen TL,Sandahl TD,Møller HJ,Vilstrup H,Ott P,Grønbæk H

更新日期：2018-09-21 00:00:00

abstract：BACKGROUND:Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of cardiac involvement using echocardiography is often very difficult to perform in these patients. The aim of the study was to use cardiac magnetic r...

journal_title：Orphanet journal of rare diseases

authors： Panovský R,Pešl M,Máchal J,Holeček T,Feitová V,Juříková L,Masárová L,Pešlová E,Opatřil L,Mojica-Pisciotti ML,Kincl V

更新日期：2021-01-30 00:00:00

abstract：BACKGROUND:Von Hippel-Lindau (VHL) disease is a multi-systemic hereditary disease associated with several benign and malignant tumor entities, including clear cell renal cell carcinoma (ccRCC). Since ccRCCs grow slowly, nephron sparing surgery is typically performed at a tumor diameter of 3-4 cm before the tumor metast...

journal_title：Orphanet journal of rare diseases

authors： Schuhmacher P,Kim E,Hahn F,Sekula P,Jilg CA,Leiber C,Neumann HP,Schultze-Seemann W,Walz G,Zschiedrich S

更新日期：2019-10-28 00:00:00

abstract：:Taliglucerase alfa is an enzyme replacement therapy (ERT) approved for treatment of adult and paediatric patients with Type 1 Gaucher disease (GD) in several countries and the first plant cell-expressed recombinant therapeutic protein approved by the US Food and Drug Administration for humans. Here, we review the find...

journal_title：Orphanet journal of rare diseases

authors： Zimran A,Wajnrajch M,Hernandez B,Pastores GM

更新日期：2018-02-23 00:00:00

abstract：:Infantile cholestatic diseases can be caused by mutations in a number of genes involved in different hepatocyte molecular pathways. Whilst some of the essential pathways have a well understood function, such as bile biosynthesis and transport, the role of the others is not known. Here we report the findings of a clini...

journal_title：Orphanet journal of rare diseases

authors： Morgan NV,Hartley JL,Setchell KD,Simpson MA,Brown R,Tee L,Kirkham S,Pasha S,Trembath RC,Maher ER,Gissen P,Kelly DA

更新日期：2013-05-16 00:00:00

abstract：BACKGROUND:Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AN...

journal_title：Orphanet journal of rare diseases

authors： Chow YP,Abdul Murad NA,Mohd Rani Z,Khoo JS,Chong PS,Wu LL,Jamal R

更新日期：2017-02-21 00:00:00

abstract：BACKGROUND:Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitudinal data on functional disease progression and safety observations in...

journal_title：Orphanet journal of rare diseases

authors： Patterson MC,Mengel E,Vanier MT,Schwierin B,Muller A,Cornelisse P,Pineda M,NPC Registry investigators.

更新日期：2015-05-28 00:00:00

abstract：BACKGROUND:Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with oculocutaneous albinism and easy bruisability. RESULTS:The patients were evalu...

journal_title：Orphanet journal of rare diseases

authors： Power B,Ferreira CR,Chen D,Zein WM,O'Brien KJ,Introne WJ,Stephen J,Gahl WA,Huizing M,Malicdan MCV,Adams DR,Gochuico BR

更新日期：2019-02-21 00:00:00

abstract：BACKGROUND:The burden of rare diseases on society and patients' families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases and inadequate funding for the management of these patients. We investigated the average annual cumul...

journal_title：Orphanet journal of rare diseases

authors： Lim SS,Lee W,Kim YK,Kim J,Park JH,Park BR,Yoon JH

更新日期：2019-02-18 00:00:00

abstract：BACKGROUND:Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondr...

journal_title：Orphanet journal of rare diseases

authors： van Rahden VA,Rau I,Fuchs S,Kosyna FK,de Almeida HL Jr,Fryssira H,Isidor B,Jauch A,Joubert M,Lachmeijer AM,Zweier C,Moog U,Kutsche K

更新日期：2014-04-15 00:00:00

abstract：BACKGROUND:Myotonic dystrophy type 1 (Steinert's disease or DM1), the most common form of autosomal dominant muscular dystrophy in adults, is a multisystem disorder, affecting skeletal muscle as well as eyes, heart, gastrointestinal tract, endocrine system, and central nervous system, finally responsible of increasing ...

journal_title：Orphanet journal of rare diseases

authors： Baldanzi S,Bevilacqua F,Lorio R,Volpi L,Simoncini C,Petrucci A,Cosottini M,Massimetti G,Tognoni G,Ricci G,Angelini C,Siciliano G

更新日期：2016-04-04 00:00:00

abstract：:Huntington's disease (HD) is a progressive neurodegenerative hereditary disease clinically characterised by the presence of involuntary movements, behavioural problems and cognitive decline. The disease-onset is usually between 30 and 50 years of age. HD is a rare disorder affecting approximately 1.3 in 10,000 people ...

journal_title：Orphanet journal of rare diseases

authors： Marelli C,Maschat F

更新日期：2016-03-17 00:00:00

abstract：BACKGROUND:Chronic obstructive pulmonary disease (COPD) is influenced by environmental and genetic factors. An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1-antitrypsin deficiency (AATD). A study was undertaken to investigate gene expression patterns in end-stage COPD ...

journal_title：Orphanet journal of rare diseases

authors： Koczulla AR,Jonigk D,Wolf T,Herr C,Noeske S,Klepetko W,Vogelmeier C,von Neuhoff N,Rische J,Wrenger S,Golpon H,Voswinckel R,Luisetti M,Ferrarotti I,Welte T,Janciauskiene S

更新日期：2012-05-23 00:00:00