Long term follow up of the Mainz cohort of Gaucher disease type 3 patients

The introduction of disease-specific therapy for patients with type I Gaucher disease (GD1) was a revolution in the management of patients, but not without cost. Thus, the management of mildly affected patients is still debated. We herein report a long-term follow-up (median (range) of 20 (5–58) years) of 103 GD1 patients who have never received enzymatic or substrate reduction therapy. The median (range) platelet count and hemoglobin levels in last assessment of all but six patients who refused therapy (although recommended and approved) were 152 (56–408) × 103/mL and 13.1 (7.6–16.8) g/dL, respectively. Most patients had mild hepatosplenomegaly. Nine patients were splenectomized. No patient developed clinical bone disease. The median (range) lyso-Gb1 levels at last visit was 108.5 (8.1–711) ng/mL; lowest for patients with R496H/other and highest for patients refusing therapy. This rather large cohort with long follow-up confirms that mildly affected patients may remain stable for many years without GD-specific therapy. The challenge for the future, when newborn screening may detect all patients, is to be able to predict which of the early diagnosed patients is at risk for disease-related complications and therefore for early treatment, and who may remain asymptomatic or minimally affected with no need for disease-specific therapy.

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Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial

Neuromuscular Disorders ◽

10.1016/j.nmd.2020.10.008 ◽

2020 ◽

Vol 30 (12) ◽

pp. 959-969

Author(s):

Francesco Muntoni ◽

Enrico Bertini ◽

Giacomo Comi ◽

Janbernd Kirschner ◽

Anna Lusakowska ◽

...

Keyword(s):

Spinal Muscular Atrophy ◽

Muscular Atrophy ◽

Long Term Follow Up ◽

Type 3

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Neuropsychological and electrophysiological long-term follow-up in the adult form of Niemann-Pick disease type C

Clinical Neurophysiology ◽

10.1016/j.clinph.2018.09.083 ◽

2019 ◽

Vol 130 (1) ◽

pp. e13-e14

Author(s):

S. Tozza ◽

R. Dubbioso ◽

R. Iodice ◽

A. Topa ◽

M. Esposito ◽

...

Keyword(s):

Disease Type ◽

Adult Form ◽

Niemann Pick Disease ◽

Long Term Follow Up ◽

Type C ◽

Niemann Pick ◽

Pick Disease

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Long-Term Follow-up to Evaluate the Safety and Efficacy of Adeno Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6-Phosphatase (G6Pase) in Adults With Glycogen Storage Disease Type Ia (GSDIa)

Case Medical Research ◽

10.31525/ct1-nct03970278 ◽

2019 ◽

Author(s):

Keyword(s):

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Adeno Associated Virus ◽

Safety And Efficacy ◽

Type Ia ◽

Long Term Follow Up

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Maintenance Efficacy of Low Dose Imiglucerase for Gaucher Disease

10.21203/rs.3.rs-25075/v1 ◽

2020 ◽

Author(s):

Zhengqing Qiu ◽

Baohui Zhang ◽

Yuhang Song ◽

Hongbing Zhang ◽

Yuting Wu

Keyword(s):

Gaucher Disease ◽

Low Dose ◽

Standard Dose ◽

Mineral Density ◽

Recommended Treatment ◽

Type 3 ◽

Term Maintenance

Abstract Background Imiglucerase is the recommended treatment for Gaucher disease (GD), a hereditary metabolic disease. In high risk adults and all children, the minimum recommended dose for long-term maintenance is 30 U/kg/2 weeks. However, the extremely high cost of this enzyme largely hinders its clinical use. The minimal maintenance dose of imiglucerase has thus been a subject of debate. We aimed to analyze the long-term maintenance outcomes of imiglucerase at dosage < 20 U/kg/2 weeks after standard dose. Methods Seventeen patients with GD type 1 or GD type 3 were enrolled for analysis. We evaluated maintenance efficacy of imiglucerase on hemoglobin, platelet, visceral volumes and bone conditions during the 7-year follow-up. Results Parameters on hemoglobin, platelet, liver, and spleen volumes of all patients were stabilized or improved. Seven out of 14 patients showed bone mineral density improvement. Three out of 16 patients showed worse bone pain; 6 out of 15 patients showed worse Erlenmeyer flask; 6 out of 15 patients showed worse bone infarction; 1 out of 16 patients showed worse marrow infiltration and 3 out of 15 patients showed worse osteonecrosis. Conclusions Imiglucerase less than 20 U/kg/2 weeks is enough to maintain blood and visceral parameters, but is not sufficient to stabilize skeletal conditions.

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