Nephropathic or "classic infantile" cystinosis the most common and most severe form of the disease is typically diagnosed in infancy and requires lifelong cystine depleting therapy.
Identification and detection of the common 65-kb deletion breakpoint in the
nephropathic cystinosis gene (CTNS).
Corneal crystals in
nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.
Nephropathic cystinosis, an orphan disease, is estimated to effect a population of 2,000 patients worldwide, including 500 patients in the U.S.
According to the WHO life quality questionnaire, QOL is negatively affected in diabetic
nephropathic patients with microalbuminuria (32).
Kaiser-Kupfer experienced success in reducing visual loss associated with the rare metabolic disorders gyrate atrophy and
nephropathic cystinosis.
Academic achievement in individuals with infantile
nephropathic cystinosis.
Benefits of Intensive Insulin Therapy Formerly on Formerly on
Nephropathic Intensive Therapy Conventional Therapy Outcome (n = 687) (n = 688) Hypertension 29.9% 40.3% New-onset 6.8% 15.8% Microalbuminuria New-onset Clinical 1.4% 9.4% albuminuria Serum creatinine Of 0.7% 2.8% at least 2 mg/dL Note: Patients had similar suboptimal glycosylated hemoglobin levels during 8 years of follow-up in the EDIC study.
Benefits of Intesive Insulin Therapy Formerly on Formerly on
Nephropathic Intensive Therapy Conventional Therapy Outcome (n = 687) (n = 688) Hypertension 29.9% 40.3% New-onset Microalbuminuria 6.8% 15.8% New-onset Clinical albuminuria 1.4% 9.4% Serum creatinine Of at least 2 mg/dL 0.7% 2.8% Note: Patients had similar suboptimal glycosylated hemoglobin levels during 8 years of follow-up in the EDIC study.
Benefits of Intensive Insulin Therapy Formerly on Formerly on
Nephropathic Intensive Therapy Conventional Therapy Outcome (n = 687) (n = 688) Hypertension 29.9% 40.3% New-onset Microalbuminuria 6.8% 15.8% New-onset Clinical albuminuria 1.4% 9.4% Serum creatinine Of at least 2 mg/dL 0.7% 2.8% Note: Patients had similar suboptimal glycosylated hemoglobin levels during 8 years of follow-up in the EDIC study.
There are three types of cystinosis, which can appear at any age: infantile
nephropathic (usually from 6-8 months after birth), late-onset
nephropathic (usually between ages 12 and 13), and benign non-nephropathic (usually in adulthood).
Study 003 is a single arm, open label study designed to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of subcutaneous (SC) ELX-02 in patients with
nephropathic cystinosis with at least 1 nonsense mutation in the cystinosin gene.
