Alagille Syndrome (ALGS) and Progressive Familial Intrahepatic Cholestasis (PFIC) MedDRA version: 17.1 Level: SOC Classification code 10010331 Term: Congenital, familial and genetic disorders System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 17.1 Level: PT Classification code 10053870 Term: Alagille syndrome
Conditions
Interventions
Product Name: LUM001
Product Code: LUM001
Pharmaceutical Form: Oral solution
INN or Proposed INN: LUM001
CAS Number: 228113-66-4
Sponsors
Shire Human Genetic Therapies Inc
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1.Competent to provide informed consent and assent, as age appropriate, (per IRB/EC). 2.Completed a treatment protocol of LUM001 in the treatment of cholestatic liver disease in patients with ALGS or PFIC, which includes Study LUM001-303, LUM001-304, LUM001 305, or LUM001-501. 3.Females of childbearing potential must have a negative urine pregnancy test [ß human chorionic gonadotropin (ß-hCG)] at the Week 0 Visit. 4.Sexually active females must be prepared to use an effective method (= 1% failure rate) of contraception during the trial. Effective methods of contraception are considered to be: a.Hormonal (e.g., contraceptive pill, patch, intramuscular implant or injection); or b.Barrier method, e.g., (a) condom with spermicide, or (b) diaphragm, with spermicide; or c.Intrauterine device (IUD). 5.Access to phone for scheduled calls from study site. Are the trial subjects under 18? yes Number of subjects for this age range: 120 F.1.2 Adults (18-64 years) no F.1.2.1 Number of subjects for this age range 5 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1.Experienced an adverse event or serious adverse event (SAE) related to the study drug during a core LUM001 treatment protocol that led to the discontinuation of the subject from the core LUM001 treatment study. 2.Any conditions or abnormalities (including laboratory abnormalities) which, in the opinion of the Investigator or Medical Monitor, may compromise the safety of the subject, or interfere with the subject participating in or completing the study. 3.History of non-adherence during the subject’s participation in the core LUM001 treatment protocol. Non-adherence is defined by dosing compliance of less than 80% in the core LUM001 treatment protocol. 4.Unlikely to comply with the study protocol, or unsuitable for any other reason, as judged by the investigator.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To evaluate the long-term safety of LUM001 in patients with ALGS or PFIC; Secondary Objective: To evaluate the long-term durability of treatment effect of LUM001 on serum laboratory markers of cholestasis (i.e., serum bilirubin, aminotransferases, cholesterol). To evaluate the long-term durability of treatment effect of LUM001 on serum bile acids. To evaluate the long-term durability of treatment effect of LUM001on pruritus. To evaluate the long-term durability of treatment effect of LUM001 on xanthomas associated with ALGS. To evaluate the long-term durability of treatment effect of LUM001 on quality of life in patients with ALGS or PFIC. To evaluate the long-term durability of treatment effect of LUM001 on quality of life of caregivers of patients with ALGS or PFIC. ; Primary end point(s): The primary evaluation for the durability of the therapeutic effect will be the change from Week 0 to Week 24, 48, 72, and 104/early termination in: •Fasting serum bile acid level. •Biochemical markers of cholestasis and liver disease [ALT, GGT and total bilirubin]. •Pruritus as measured by the Caregiver Impression of Change to assess itch and Clinician Scratch Scale. •Xanthomas as measured by Clinician Xanthoma Scale. •To evaluate the long-term durability of treatment effect of LUM001 on quality of life in patients with ALGS or PFIC, using the PedsQL core module. •To evaluate the long-term durability of treatment effect of LUM001 on quality of life of caregivers of patients with ALGS or PFIC, using the PedsQL family impact module ;Timepoint(s) of evaluation of this end point: Serum bile acids and cholestasis markers are measured at baseline and weeks 24, 48, 72 and 104. Patient questionnaires to measure pruritis, xanthomas and quality | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): Additional exploration of evaluations of durability of therapeutic effect, including behavior.;Timepoint(s) of evaluation of this end point: At weeks 24, 48, 72 and 104 | — |
Countries
Australia, Canada, United Kingdom, United States
Contacts
Public ContactEU Regulatory Strategy Group Lead
Shire Pharmaceuticals Development Ltd
Outcome results
None listed