Rare CFTR Mutation Cell Collection Protocol (RARE)

Therapuetic Areas:Pulmonary / Respiratory Diseases
Age Range:2 - Any
Start Date:October 5, 2017
End Date:December 1, 2019
Contact:Heather Y Hathorne, PhD

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Over 1,900 mutations in the gene for the cystic fibrosis transmembrane conductance regulator
(CFTR) protein are implicated in causing Cystic Fibrosis (CF). Potential therapies that
directly target defective CFTR are being evaluated in important clinical trials, but most
target the most common CFTR mutation F508del. Many patients with rare CF mutations are not
able to participate in those studies. The RARE study is specifically designed for people with
CF caused by two pre-mature stop codon mutations.

This is a multi-site, specimen collection study. Investigators will collect blood and nasal
cells from each participant. Some participants may also choose to participate in an optional
Rectal Biopsy Sub-Study to collect intestinal cells. Cells from these specimens will be used
to test future CFTR modulators to see if they might work for people with two pre-mature stop
codon mutations. Having cells to test in the lab is an important first step in identifying
potential new therapies for people with these mutations.

This is a multi-site, specimen collection study for people with Cystic Fibrosis who have two
pre-mature stop codon mutations. This study is non-interventional so there is no study drug
or investigational treatment involved.

- Once a potentially eligible participant is identified (either self-identified or by
their CF care center), and the person has expressed interest in participating in the
study, the participant will be referred to a participating study site to receive
additional information about the study and about travel arrangements (if needed).

- The eligibility criteria are broad and inclusive: Often studies have restrictions around
lung function that limit who can participate. The only real restriction for this study
is having 2 pre-mature stop codon mutations.

- Blood and nasal cells will be collected from all participants. Select study sites will
have an optional Rectal Biopsy Sub-Study to collect intestinal cells.

- Participants will be compensated for the time of the visit and travel expenses will be
pre-paid by the study. The study site research coordinator can provide more detail on
how much participants will be paid.

- This study is being conducted at six regional sites. Participants may travel to any of
the regional study sites to participate, but the participant will need to talk with the
research coordinator at the site of their choice to get all of the study details before
making a decision to participate. The study site research coordinator will put
participants in contact with the travel agency to arrange and pre-pay for travel
(including hotel, airline/train arrangements as needed).

Visit Schedule:

1. One day if participating in Core Study only

2. Two days if participating in Core Study + Rectal Biopsy Sub-study

Inclusion Criteria:

- Male or female ≥ 2 years of age at time of consent

- Documentation of a CF diagnosis as evidenced by one or more clinical features
consistent with CF and one or more of the following criteria (1. Sweat chloride ≥ 60
milliequivalents/Liter (mEq/L) by quantitative pilocarpineiontophoresis test (QPIT) OR
upon permission of the RARE Investigator- Sponsors, 2. Two well-characterized
mutations in the cystic fibrosis transmembrane conductive regulator (CFTR) gene,
3.Abnormal nasal potential difference (NPD) (change in NPD in response to a low
chloride solution and isoproterenol of lessthan -6.6 mV)

- Confirmed genotype of the current recruitment focus for certain target rare mutations.
The initial recruitment focus will be CF patients who are homozygous for pre-mature
stop codons. Operations Memos will detail any future current genotype targets.

- Written informed consent (and assent when applicable) obtained from participant or
participant's legal representative and ability to comply with the requirements of the

- Willing to travel (if needed) to a regional study site for cell collection.

Exclusion Criteria:

- Presence of a condition or abnormality that, in the opinion of the Investigator, would
compromise the safety of the patient or the quality of the data.

Additional Inclusion Criteria for Rectal Biopsy Sub-Study:

-Male or female ≥ 18 years of age at time of consent

Additional Exclusion Criteria for Rectal Biopsy Sub-study:

- Any medical condition or laboratory values that in the opinion of the onsite principal
investigator and/or collaborating gastroenterologist may place the participant at
significant risk by undergoing the research related biopsy, including:

- Significantly diseased distal rectal/GI tissue that could place the participant at
risk by participating in the study (as judged by the collaborating gastroenterologist,
such as significant hemorrhoids, vascular abnormalities, colonic infection, radiation
injury or history of radiation therapy to the rectum, prostate and/or pelvic area)

- Any of the following abnormal lab values at the study visit:

i. Platelets < 50 x 103/µL ii. Hemoglobin < 10 gm/dL iii. Hematocrit < 30% iv. WBC >
20 x 103/µL v. Neutropenia (ANC < 1.5 x 103/µL) vi. Lymphopenia (absolute lymphocyte
count < 1.5 x 103/µL) vii. PT/INR > 1.5 viii. Other bleeding diathesis 2. Positive
pregnancy test (for female of childbearing potential) at the study visit.

3. Breastfeeding (if patient opts to use sedation). 4. Current use of drugs with
significant risks of compromising immunity (e.g. oral steroid use >20 mg/day) for >14
days prior to the rectal biopsy.

5. History of organ transplant. 6. Use of oral anticoagulant medications.
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(612) 273-3000
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1720 2nd Ave S
Birmingham, Alabama 35233
(205) 934-4011 
Principal Investigator: Steven M Rowe, MD
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Aurora, Colorado 80045
Phone: 720-777-2945
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Palo Alto, California 94394
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