Patients with a Cystinosis disease or high-grade suspicion for Cystinosis disease

For the development of the new biomarkers using the technique of Mass-spectrometry, maximal 7,5 ml of blood will be taken via using a dry blood spot filter card. To proof the correct Cystinosis diagnosis in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Cystinosis disease will be done. The analyses will be done at: Centogene AG Am Strande 7 18055 Rostock Germany

Renal Fanconi Syndrome

Photophobia

Hypophosphatemia

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Centogene AG

Amrita Institute of Medical Sciences & Research Centre

Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN)

Lady Ridgeway Hospital for Children

Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)

Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

New methods, like mass-spectrometry give a good chance to characterize specific metabolic alterations in the blood of affected patients that allow diagnosing in the future the disease earlier, with a higher sensitivity and specificity.

The goal of the study to identify and validate a new biochemical marker from the blood of the affected patients helping to benefit other patients by an early diagnose and thereby with an earlier treatment.

Centogene AG Rostock

Botulinum Toxin injections at adductors and triceps surae

Placebo injections at adductors and triceps surae

Hereditary Spastic Paraplegia

Each patient in the treatment group will receive 400 units of botulinum toxin. 100 units will be injected at adductors at each leg and 100 units will be applied in each triceps surae bilaterally.

Botulinum Toxin Injections

Each patient in the placebo group will receive sterile sodium chloride injections at adductors and triceps surae muscles bilaterally.

Placebo Injections

Univeristy of Campinas Hospital

Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia

Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study

The primary outcome measure will be change from baseline in maximum gait velocity. Each patient will be asked to walk a 10 meter distance barefooted 3 times, as fast as he can. The average velocity between the 3 trials will be used as the final measure. Assistive devices are permitted.

The same neurologist will examine the patient to evaluate change at the SPRS scale

blepharospasm/перевтома

Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)

Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia

Найповніша база даних про лікарські трави, підкріплена наукою