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Protocol Details

Clinical and Molecular Investigations Into Ciliopathies

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

03-HG-0264

Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 6 Mo
Max Age: 80

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

NHGRI has partnered with the ARPKD/CHF Alliance that can be reached at (717) 529-5555 or www.arpkd.org.

Keywords

Caroli's syndrome;
Congenital Hepatic Fibrosis;
Ductal Plate Malformation;
Ciliopathy;
Polycystic Kidney;
Polycystic Liver;
Nephronophthisis;
Molar Tooth Sign;
Dandy-Walker Malformation;
Retinopathy;
Situs Inversus;
Heterotaxia;
Cerebellar Vermis Hypoplasia

Recruitment Keyword(s)

Autosomal Recessive Polycystic Kidney Disease;
ARPKD;
Congenital Hepatic Fibrosis;
Kidney;
Liver

Condition(s)

Autosomal Recessive Polycystic Kidney Disease;
Congenital Hepatic Fibrosis;
Caroli's Disease;
Polycystic Kidney Disease;
joubert syndrome;
Cerebro-Oculo-Renal syndromes;
COACH syndrome;
Senior-Loken syndrome;
Dekaban-Arima syndrome;
Cogan Oculomotor Apraxia;
Nephronophthisis;
Bardet-Biedl syndrome;
Alstrom syndrome;
Oral-Facial-Digital syndrome

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Human Genome Research Institute

This study will evaluate patients ciliopathies. People with ciliopathies develop fibrocystic disease of the kidneys and liver, retinal degeneration, obesity, structural and functional defects of the central nervous system and the eyes, abnormal bone growth, abnormal sidedness of internal organs and polydactyly. The goal of the study is to better understand the medical complications of these disorders and identify characteristics that can help in the design of new treatments.

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Eligibility

INCLUSION CRITERIA:

Children and adults who carry a clinical diagnosis of a known ciliopathy such as ARPKD, CHF, JSRD, BBS, OFD1, AS and those patients who have typical features suggestive of a ciliopathy but not fulfilling the diagnostic criteria for any

of the known disorders (unknown types of PKD and/or CHF, retinal degeneration, variants of molar tooth sign such as Dandy-Walker variants). This might rarely include adults who are unable to give informed consent.

Among patients who have received a kidney or liver allograft, those with stable graft function and without severe transplantrelated

complications are eligible for enrollment.

EXCLUSION CRITERIA:

Infants under 6 months of age

Medically fragile patients who require frequent hospitalizations due to complications of end-stage renal disease (uncontrolled hypertension, severe electrolyte imbalances), hepatic disease (current variceal bleeding, overt encephalopathy, intractable recurrent cholangitis), severe cardiomyopathy as seen in some AS patients, or severe respiratory abnormalities as seen in some JSRD patients with severe brain stem involvement.


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Citations:

Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman M, Graf J, Bryant JC, Kleta R, Garcia A, Edwards H, Piwnica-Worms K, Adams D, Bernardini I, Fischer RE, Krasnewich D, Oden N, Ling A, Quezado Z, Zak C, Daryanani KT, Turkbey B, Choyke P, Guay-Woodford LM, Gahl WA. Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol. 2010 Jun;5(6):972-84. doi: 10.2215/CJN.07141009. Epub 2010 Apr 22.

Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):296-306. doi: 10.1002/ajmg.c.30225.

Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler NG, Roque A, Douek DC, Graf J, Huizing M, Bryant JC, Mohan P, Gahl WA, Heller T. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology. 2013 Jan;144(1):112-121.e2. doi: 10.1053/j.gastro.2012.09.056. Epub 2012 Oct 3.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Meral Gunay-Aygun, M.D.
National Human Genome Research Institute (NHGRI)
10 CENTER DR RM 10C103
BETHESDA MD 20892
(443) 286-1703
mg466r@nih.gov

Meral Gunay-Aygun, M.D.
National Human Genome Research Institute (NHGRI)
10 CENTER DR RM 10C103
BETHESDA MD 20892
(443) 286-1703
mg466r@nih.gov

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00068224

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