Clinical trial NCT03074357: Urine, DNA and Clinical Information Collection From Patients With Alport Nephropathy.
Official title: Urine, DNA and Retrospective Clinical Information Collection From Patients With Alport Nephropathy.
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Alport Nephropathy
Lead sponsor: Novartis
Sponsor class: INDUSTRY
First posted: 2017-03-08
Enrollment: 68
Sex: ALL
Minimum age (years): 5
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: OTHER
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study population will be males and females comprised of up to 80 Alport subjects who participated in CPLATFRM2201 study as well as up to 20 pediatric and adolescent healthy volunteers (including healthy siblings of Alport subjects) that have met all other eligibility criteria.

Brief summary: This biomarker study is a follow-up to CPLATFRM2201. The goal of CBASICHR0005 is to collect another urine sample, interval clinical information, and an optional DNA sample from as many of the original 80 patients as possible. This new information will transform the data obtained in PLATFRM2201 from a cross-section to a temporal profile, which will (a) further enable the identification of biomarkers predictive of faster progression, and (b) satisfy the FDA's recommendation to perform "natural history studies" in rare diseases.


Eligibility criteria: Inclusion Criteria:

• Able to communicate well with the investigator, to understand and comply with the requirements of the study and able to provide written informed consent (parent or legal guardian for pediatric and adolescent subjects), which must be obtained before any assessment is performed.

Alport Subject-Specific Inclusion Criteria:

* Participation in CPLATFRM2201
* Physically able to provide a single first-morning urine sample of at least 30 mL (one ounce). Alport patients who have initiated dialysis therapy since participation in CPLATFRM2201 are exempt from this criterion and may still participate in this study.

Healthy Volunteer-Specific Inclusion Criteria:

• Male and Female Volunteers (may include healthy siblings of Alport patients) aged 5 to 15 years.

Exclusion Criteria:

Alport Subject-Specific Exclusion Criteria:

• None

Healthy Volunteer-Specific Exclusion Criteria:

* Use of investigational drugs at the time of enrollment, or within 30 days or 5 halflives of enrollment, whichever is longer; or longer if required by local regulations, and for any other limitation of participation in an investigational trial based on local regulations.
* Known history of one of more of (a) hematuria (gross or microscopic), (b)audiological deficits, (c) fixed (non-orthostatic) proteinuria, or (d) reduced renal filtration function with serum creatinine (Cr) above the upper limit of the normal age-specific reference range, on at least 2 prior occasions (serum Cr need not be measured specifically for eligibility).
* Any other clinically significant underlying medical conditions as judged by the PI.

Primary outcomes:
measure: Urine levels of biomarkers - corrected for urine creatinine
timeFrame: Day 1
Secondary outcomes:
measure: Urine level of biomarkers - corrected for urine creatinine
timeFrame: Day 1
Other outcomes:
Locations:
city: Minneapolis
country: United States
facility: Novartis Investigative Site
state: Minnesota
Study officials:
References: