Open-Label Safety & Superior Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cystinosis

INCLUSION CRITERIA:

• Male or female with a documented diagnosis of cystinosis
• On a stable dose of Cystagon at least 21 days prior to Screening
• WBC cystine level > 1 nmol 1/2 cystine/mg of protein, on average over at least 2 measurements collected during the 2 years prior to Screening
• No clinically significant change in liver function tests, i.e. 1.5 times ULN for ALT and AST, and/or 1.5 times ULN for total bilirubin, within 6 months prior to Screening
• No clinically significant change in renal function, i.e. estimated GFR within 6 months prior to Screening
• Must have an estimated GFR > 20 mL/minute/1.73m2 (using the equation from Schwartz 2009 J Am Soc Nephrol 20:629-647)
• Female subjects who are sexually active and of childbearing potential, i.e. not surgically sterile (tubal ligation, bilateral oophorectomy, or hysterectomy) or at least 2 years naturally postmenopausal must agree to use an acceptable form of contraception from Screening through completion of the study. Acceptable forms of contraception for this study include hormonal contraceptives (oral, implant, transdermal patch, or injection) at a stable dose for at least 3 months prior to Screening, barrier (spermicidal condom or diaphragm with spermicide), IUD, or a partner who has been vasectomized for at least 6 months.
• Subject or their parent or guardian must provide written informed consent, assent (where applicable), prior to participation in the study

EXCLUSION CRITERIA:

• Younger than 12 years of age

• Current history of the following conditions or any other health issues that make it, in the opinion of the investigator, unsafe for study participation:

  • Inflammatory bowel disease if currently active, or prior resection of the small intestine;
  • Heart disease (e.g., myocardial infarction, heart failure, unstable arrhythmias, or poorly controlled hypertension) within 90 days prior to Screening;
  • Active bleeding disorder within 90 days prior to Screening;
  • History of malignant disease within 2 years prior to Screening
• Hemoglobin level of < 9 g/dL at Screening or, in the opinion of the investigator, a hemoglobin level that would make it unsafe for study participation
• Known hypersensitivity to cysteamine and penicillamine
• Female subjects who are nursing, planning a pregnancy, or are known or suspected to be pregnant
• Subjects who, in the opinion of the investigator, are not able or willing to comply with study requirements