Natural history study of factor IX deficiency with focus on treatment and complications (B‐Natural)

Haemophilia ◽  
2020 ◽  
Author(s):  
Amy D. Shapiro ◽  
Margaret V. Ragni ◽  
Munira Borhany ◽  
Yasmina L. Abajas ◽  
Michael D. Tarantino ◽  
...  
Keyword(s):  
Natural History ◽  
Factor Ix ◽  
Natural History Study ◽  
Factor Ix Deficiency

Telangiectasia and Christmas Factor (Factor IX) Deficiency

1961 ◽  
Vol 05 (01) ◽  
pp. 093-096 ◽  
Author(s):  
F Nour-Eldin
Keyword(s):  
Factor Ix ◽  
Laboratory Findings ◽  
Vascular Abnormality ◽  
Factor Deficiency ◽  
Factor Ix Deficiency

SummaryThe clinical and laboratory findings in a case of Christmas factor deficiency associated with vascular abnormality are reported.The relation of this syndrome to Christmas disease and related conditions is discussed.

scholarly journals Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study

2021 ◽  
pp. 088307382098126
Author(s):  
Phillip L. Pearl ◽  
Melissa L. DiBacco ◽  
Christos Papadelis ◽  
Thomas Opladen ◽  
Ellen Hanson ◽  
...  
Keyword(s):  
Natural History ◽  
Psychiatric Symptoms ◽  
Epileptiform Activity ◽  
Laboratory Data ◽  
Standard Of Care ◽  
Succinic Semialdehyde ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Natural History Study ◽  
Semialdehyde Dehydrogenase ◽  
Verbal Score

Objective: The SSADHD Natural History Study was initiated in 2019 to define the natural course and identify biomarkers correlating with severity. Methods: The study is conducted by 4 institutions: BCH (US clinical), WSU (bioanalytical core), USF (biostatistical core), and Heidelberg (iNTD), with support from the family advocacy group (SSADH Association). Recruitment goals were to study 20 patients on-site at BCH, 10 with iNTD, and 25 as a standard-of care cohort. Results: At this half-way point of this longitudinal study, 28 subjects have been recruited (57% female, mean 9 years, range 18 months–40 years). Epilepsy is present in half and increases in incidence and severity, as do psychiatric symptoms, in adolescence and adulthood. The average Full Scale IQ (FSIQ) was 53 (Verbal score of 56, Non Verbal score of 49), and half scored as having ASD. Although there was no correlation between gene variant and phenotypic severity, there were extreme cases of lowest functioning in one individual and highest in another that may have genotype-phenotype correlation. The most common EEG finding was mild background slowing with rare epileptiform activity, whereas high-density EEG and magnetoencephalography showed reduction in the gamma frequency band consistent with GABAergic dysfunction. MR spectroscopy showed elevations in the GABA/NAA ratio in all regions studied with no crossover between subjects and controls. Conclusions: The SSADH Natural History Study is providing a unique opportunity to study the complex pathophysiology longitudinally and derive electrophysiologic, neuroimaging, and laboratory data for correlation and to serve as biomarkers for clinical trials and prognostic assessments in this ultra-rare inherited disorder of GABA metabolism.

The RETRIEVE Study: A natural history study of type 2 Gaucher disease, and GM1 and GM2 gangliosidoses with early onset, in preparation of a clinical trial

2021 ◽  
Vol 132 (2) ◽  
pp. S48-S49
Author(s):  
Benedicte Heron-Longe ◽  
Spyros Batzios ◽  
Eugen Mengel ◽  
Roberto Giugliani ◽  
Marc Patterson ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Natural History ◽  
Early Onset ◽  
Gaucher Disease ◽  
Natural History Study ◽  
Gm2 Gangliosidoses
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